Paediatrics
UK Medical Licensing Assessment (MLA) & clinical revision
An integrated paediatric teaching chapter based on seven uploaded subject articles, supplemented by selected MLA-relevant topics. Original clinical content is retained substantially intact; supplementary content is identified in the relevant chapters. Adult protocols and adult drug doses must not be assumed to apply to children.
1. Growth, Development and Nutrition
📏 Growth, development and nutrition are the foundations of child health. A child who is growing and developing normally is usually well; faltering growth, a drop across centiles, or loss of skills tells you something is wrong. Plot every measurement on the right chart, know the key milestones and their limit ages, and keep up to date with the immunisation schedule (which changed in 2025–26).
Your four questions for every child: What does the growth chart show over time (weight, height, head)? Are milestones normal for age — and have any skills been lost? Is the child eating a healthy, age-appropriate diet? Are immunisations up to date?
The Healthy Child Programme
- Health visitor reviews (England):
- Antenatal contact (from 28 weeks).
- New birth visit (10–14 days).
- 6–8 week review (with the GP NIPE check).
- 1-year review (9–12 months).
- 2–2½ year review (development, often using Ages and Stages Questionnaires).
- Personal child health record ("red book") — growth charts, immunisations, checks.
- School-age — vision screening at 4–5 (orthoptist); hearing screening at school entry in some areas; National Child Measurement Programme (height and weight in Reception and Year 6).
- Dental care — brush twice daily with fluoride toothpaste from the first tooth; dental visits from the first tooth; limit sugary drinks and snacks.
- Accident prevention — car seats, stair gates, safe storage of medicines and button batteries, window locks, water safety, hot drinks.
The Immunisation Schedule
UK routine schedule (for children born from 1 July 2024, after the changes in July 2025 and January 2026 — always check the current Green Book):
| Age | Vaccines |
|---|---|
| 8 weeks | 6-in-1 (diphtheria, tetanus, pertussis, polio, Hib, hepatitis B); MenB; rotavirus (oral) |
| 12 weeks | 6-in-1; MenB (second dose — moved from 16 weeks in 2025); rotavirus |
| 16 weeks | 6-in-1; pneumococcal (PCV) (moved from 12 weeks in 2025) |
| 1 year | MMRV (measles, mumps, rubella, varicella — from January 2026); PCV booster; MenB booster |
| 18 months (new appointment) | 6-in-1 (fourth dose, for Hib and other protection); MMRV (second dose) |
| 2 years to secondary school age | Influenza nasal spray (live attenuated) every autumn |
| 3 years 4 months | 4-in-1 pre-school booster (diphtheria, tetanus, pertussis, polio); second MMR(V) for older children not covered at 18 months |
| 12–13 years | HPV (girls and boys; single dose since 2023) |
| 14 years | 3-in-1 teenage booster (tetanus, diphtheria, polio); MenACWY |
- Changes to note:
- Hib/MenC at 1 year has been removed and replaced by extra 6-in-1 doses.
- Chickenpox vaccine now part of the routine schedule (MMRV), with a catch-up for older children (2026–28).
- Children born before July 2024 follow the older schedule (e.g. an extra 6-in-1 at 1 year and MMR at 3 years 4 months).
- Selective (targeted) immunisations:
- Hepatitis B — babies of mothers with hepatitis B: at birth, 4 weeks, then with the 6-in-1, plus 1 year (blood test); hepatitis B immunoglobulin for some.
- BCG — babies at higher risk of TB (high-incidence areas or family origin), at about 28 days (after the SCID screening result where offered).
- RSV — maternal vaccine in pregnancy from 28 weeks; antibody (e.g. nirsevimab) for high-risk infants.
- Pertussis — maternal vaccine in pregnancy from 16 weeks.
- Flu and pneumococcal vaccines for children with long-term conditions; MenACWY and MenB for asplenia.
Immunisation in Practice
- Preterm babies — vaccinate at the usual chronological age (not corrected age). Babies born under 28 weeks may need breathing monitoring for 48–72 hours after the first vaccines in hospital.
- Rotavirus — oral; the first dose must be given by 15 weeks and the course completed by 24 weeks (small risk of intussusception in older infants). Not for severe combined immunodeficiency (live vaccine).
- Paracetamol after MenB — give 3 doses of infant paracetamol after the 8- and 12-week MenB vaccines (fever is common).
- True contraindications (rare):
- Anaphylaxis to a previous dose or a vaccine component.
- Live vaccines (MMRV, rotavirus, BCG, nasal flu) — not in significant immunosuppression (chemotherapy, high-dose steroids, some biologics, SCID) or pregnancy.
- Nasal flu — not in severe egg allergy with anaphylaxis needing ICU (most egg-allergic children can have it), severe asthma or active wheezing; not in close contacts of severely immunocompromised people.
- Not contraindications — minor illness without fever, stable neurological conditions, family history of reactions, prematurity, breastfeeding, mild egg allergy (MMR is fine), being on antibiotics.
- Postpone if acutely unwell with a fever.
- Side effects — sore arm, fever (MenB), irritability; MMR(V) — fever and rash at 7–10 days, swollen glands, rarely febrile seizure or low platelets.
- MMR and autism — there is no link (the original study was fraudulent and retracted).
- Consent — from a person with parental responsibility, or a Gillick-competent young person.
- Vaccine hesitancy — listen, explore concerns, give clear information; falling uptake has led to measles outbreaks in the UK.
Measuring Growth
- UK-WHO growth charts (0–4 years) and UK 2–18 charts; special charts for Down syndrome, Turner syndrome, and preterm babies (plot at corrected age until 2 years).
- Measure accurately:
- Weight — naked for babies.
- Length (lying, under 2 years) or height (standing, over 2 years) with a proper measuring device.
- Head circumference (occipitofrontal) — under 2 years.
- Centiles — most children track along a centile; crossing two or more centile lines needs explanation (though some movement in the first year is normal as babies find their genetic centile).
- Mid-parental height — estimates target adult height:
- Boys — (father's height + mother's height + 13 cm) ÷ 2.
- Girls — (father's height + mother's height − 13 cm) ÷ 2.
- Range about ±10 cm (8.5 cm for girls).
- BMI centile (from 2 years) — overweight at the 91st centile or above, obese at the 98th or above (clinical use).
- Head size:
- Microcephaly (under 2nd centile) — familial, congenital infection (CMV, Zika), genetic syndromes, fetal alcohol, brain injury.
- Macrocephaly (over 98th) — familial (parents' heads), hydrocephalus (crossing centiles, bulging fontanelle, sunsetting eyes), subdural collections (consider NAI), metabolic disease, NF1.
Faltering Growth
- Definition (NICE NG75) — slower weight gain than expected:
- A fall across 1 or more weight centile spaces if birth weight was below the 9th centile.
- A fall across 2 or more centile spaces if birth weight was between the 9th and 91st.
- A fall across 3 or more if birth weight was above the 91st.
- Or current weight below the 2nd centile, whatever the birth weight.
- Causes:
- Inadequate intake (the commonest) — feeding difficulties (breastfeeding problems, poor technique), poor appetite, oromotor problems, neglect, poverty, food insecurity.
- Inadequate absorption — coeliac disease, cystic fibrosis, cow's milk protein allergy, IBD, short bowel.
- Increased losses — vomiting (GORD, pyloric stenosis), diarrhoea.
- Increased needs — congenital heart disease, chronic lung disease, chronic infection (HIV, TB), hyperthyroidism, cancer.
- Other chronic conditions — CKD, metabolic and genetic disorders, cerebral palsy.
- Assessment:
- Feeding history and observe a feed; food diary for older children.
- Development, behaviour, family and social history (safeguarding).
- Examination for signs of chronic disease or neglect.
- Tests only if indicated — urine culture (UTI), FBC, ferritin, U&E, LFTs, TFTs, coeliac serology (once eating gluten), sweat test.
- Management — feeding support (health visitor, infant feeding specialist, dietitian), treat the cause, regular weight monitoring; safeguarding referral if neglect is suspected; admission rarely needed.
Short Stature
- Definition — height below the 2nd centile (or well below the mid-parental target), or slowing height velocity (crossing centiles downwards).
- Normal variants (most):
- Familial short stature — short parents; growing normally along a low centile; normal bone age.
- Constitutional delay of growth and puberty — "late bloomers" (often boys, family history of late puberty): short in childhood, delayed bone age, late growth spurt, normal final height.
- Pathological causes:
- Endocrine — hypothyroidism, growth hormone deficiency, Cushing's syndrome (or long-term steroids — often overweight), poorly controlled diabetes.
- Chronic disease — coeliac disease, Crohn's disease, CKD, cystic fibrosis, congenital heart disease, severe asthma.
- Genetic syndromes — Turner syndrome (always consider in short girls), Noonan, Prader–Willi, Down, Russell–Silver, SHOX deficiency.
- Skeletal dysplasias — achondroplasia (disproportionate — short limbs).
- Born small for gestational age without catch-up growth.
- Psychosocial deprivation and neglect.
- Malnutrition.
- Clues to pathology — height well below the parental target, slowing growth velocity, disproportion, dysmorphic features, overweight with short stature (endocrine), underweight with short stature (chronic disease, malnutrition).
- Tests — FBC, ESR, U&E, LFTs, TFTs, coeliac serology, karyotype in girls (Turner), IGF-1 (growth hormone stimulation tests in specialist care), bone age (X-ray of the left hand and wrist).
- Growth hormone treatment (NICE TA188) — GH deficiency, Turner syndrome, Prader–Willi syndrome, CKD, born SGA without catch-up, SHOX deficiency.
Tall Stature
- Familial — the commonest.
- Obesity — children are often tall for age (bone age advanced), but end up at normal adult height.
- Early puberty — tall as a child, short adult (early fusion of growth plates).
- Hyperthyroidism; growth hormone excess (gigantism — rare); CAH.
- Syndromes — Marfan syndrome (long limbs, arachnodactyly, lens dislocation, aortic root dilatation), Klinefelter syndrome (boys — small testes, learning difficulties), homocystinuria, Sotos syndrome (large head, learning difficulties), Beckwith–Wiedemann syndrome.
Childhood Obesity
- How common — about 1 in 5 children in Year 6 in England are obese (higher in deprived areas).
- Definitions (clinical) — BMI 91st centile or above = overweight; 98th or above = obese; 99.6th or above = severe obesity.
- Causes — mainly energy imbalance (diet, inactivity, screen time, sleep); family and environmental factors.
- Look for underlying causes if:
- Short stature or slowing height — hypothyroidism, Cushing's syndrome, GH deficiency.
- Learning disability and dysmorphic features — Prader–Willi syndrome (floppy as a baby, then insatiable appetite), Bardet–Biedl.
- Very early onset (under 5) severe obesity — genetic causes (e.g. MC4R, leptin pathway).
- Drugs — steroids, antipsychotics, some antiepileptics.
- Complications:
- Type 2 diabetes, insulin resistance (acanthosis nigricans), high BP, dyslipidaemia.
- Fatty liver (MASLD).
- Obstructive sleep apnoea; asthma.
- Slipped capital femoral epiphysis; Blount's disease; flat feet.
- Idiopathic intracranial hypertension.
- PCOS; early puberty.
- Low self-esteem, bullying, depression.
- Management:
- Family-based lifestyle programmes — healthy eating, portion sizes, less sugary drinks, at least 60 minutes of physical activity a day, less screen time, good sleep.
- Aim to maintain weight while the child grows taller (younger children) or gradual weight loss (older, severe obesity).
- Screen for complications (BP, HbA1c, lipids, LFTs) in older or severely obese children.
- Specialist — drugs (e.g. orlistat; GLP-1 receptor agonists are licensed in adolescents); bariatric surgery in exceptional cases.
- Avoid stigmatising language.
Normal Puberty
| Normal pattern | |
|---|---|
| Girls | Starts at 8–13 years. First sign — breast budding (thelarche), then pubic hair; growth spurt early in puberty; menarche about 2–2½ years after breast budding (average about 12½–13) |
| Boys | Starts at 9–14 years. First sign — testicular enlargement (4 mL or more on an orchidometer), then pubic hair and penile growth; growth spurt later in puberty; voice breaks |
| Adrenarche | Body odour, pubic and axillary hair, acne — from adrenal androgens; separate from gonadal puberty |
| Tanner stages | Stages 1 (prepubertal) to 5 (adult) for breasts, genitals and pubic hair |
Early Puberty
- Precocious puberty — signs of puberty before 8 in girls or 9 in boys.
- Central (gonadotrophin-dependent) — early activation of the normal hypothalamic–pituitary axis; puberty follows the normal sequence.
- Girls — usually idiopathic (but younger girls need MRI).
- Boys — more often pathological — brain tumours (hypothalamic hamartoma, glioma), hydrocephalus, brain injury — always image.
- Peripheral (gonadotrophin-independent) — sex hormones from elsewhere; low LH and FSH:
- Congenital adrenal hyperplasia (virilisation; small testes in boys).
- Adrenal tumours; ovarian or testicular tumours (one large testis); hCG-secreting tumours.
- McCune–Albright syndrome (café-au-lait patches, bone lesions, early puberty).
- Exogenous hormones (creams, gels from parents).
- Clue in boys — testicular volume: large testes suggest central puberty; small testes with virilisation suggest an adrenal cause.
- Benign variants (no treatment, monitor):
- Premature thelarche — breast development alone in girls under 3; no growth spurt.
- Premature adrenarche — early pubic hair and body odour (ages 6–8), normal growth; check for CAH if virilised; linked to later PCOS.
- Tests — growth chart, bone age, LH and FSH (GnRH stimulation test), oestradiol or testosterone, 17-hydroxyprogesterone, pelvic ultrasound (girls), MRI brain (central).
- Treatment — GnRH agonist (e.g. leuprorelin, triptorelin) to pause central puberty; treat the underlying cause.
Delayed Puberty
- Definition — no breast development by 13 in girls, or no testicular enlargement by 14 in boys (or no menarche by 15).
- Causes:
- Constitutional delay — the commonest, especially in boys; family history; delayed bone age; normal eventual puberty.
- Hypogonadotrophic hypogonadism (low FSH and LH):
- Chronic illness (IBD, coeliac, CF, CKD), low weight, excessive exercise, anorexia nervosa.
- Kallmann syndrome (anosmia), pituitary tumours (craniopharyngioma), hypothyroidism, hyperprolactinaemia.
- Hypergonadotrophic hypogonadism (high FSH and LH — gonads not working):
- Turner syndrome (girls), Klinefelter syndrome (boys — puberty often starts but doesn't progress).
- Gonadal damage — chemotherapy, radiotherapy, mumps, torsion.
- Tests — growth chart, bone age, LH, FSH, oestradiol or testosterone, TFTs, prolactin, coeliac serology, FBC, ESR; karyotype if FSH and LH high; MRI pituitary if indicated.
- Management — treat the cause; reassurance for constitutional delay; short courses of low-dose testosterone (boys) or oestrogen (girls) to start puberty (psychological benefit).
Developmental Milestones
| Age (median) | Typical skills |
|---|---|
| 6 weeks | Social smile; follows faces; lifts head briefly when prone; startles to noise |
| 3 months | Good head control; laughs; reaches for objects (about 4 months); turns to sounds |
| 6 months | Sits with support; rolls; palmar grasp and transfers objects between hands; puts things in the mouth; babbles |
| 9 months | Sits without support; crawls; inferior pincer grip; stranger anxiety; looks for dropped toys (object permanence); says "mama", "dada" (non-specific) |
| 12 months | Pulls to stand, cruises, may walk; fine pincer grip; points; waves bye-bye; 1–3 words with meaning |
| 18 months | Walks well; tower of 3 bricks; scribbles; uses a spoon; 6–20 words; points to body parts |
| 2 years | Runs, kicks a ball; tower of 6; joins 2 words; about 50 words; parallel play |
| 3 years | Pedals a tricycle; stands on one foot briefly; copies a circle; tower of 9; 3–4 word sentences; plays with others; dry by day |
| 4 years | Hops; copies a cross (square at about 4½); tells stories; dresses with help |
| 5 years | Skips; copies a triangle; draws a person; dresses alone; fluent speech |
- Red flags (limit ages) — refer for assessment if:
- No social smile by 8 weeks.
- Not sitting unsupported by 9–12 months.
- Not walking by 18 months (check CK in boys — Duchenne muscular dystrophy).
- No words by 18 months; not joining words by 2½ years.
- Hand preference before 12 months (suggests weakness of the other side — cerebral palsy).
- Not pointing or responding to name by 12–18 months (autism).
- Loss of previously gained skills (regression) at any age — urgent (neurodegenerative or metabolic disease, Rett syndrome, autism, epilepsy).
- Parental concern — always take seriously.
Developmental Delay
- Global developmental delay — significant delay in two or more areas (gross motor, fine motor, speech and language, social and cognitive) in a child under 5.
- Specific delay — one area (e.g. motor — cerebral palsy or neuromuscular; speech — hearing loss).
- Causes:
- Genetic — Down syndrome, fragile X, microdeletions (22q11), Rett, Angelman, other chromosomal and single-gene disorders.
- Antenatal — congenital infection (CMV, rubella, toxoplasmosis), fetal alcohol spectrum disorder, drugs.
- Perinatal — prematurity, HIE, kernicterus, neonatal hypoglycaemia.
- Postnatal — meningitis, encephalitis, head injury (including NAI), hypothyroidism, lead poisoning, severe neglect.
- Metabolic and neurodegenerative disorders.
- Unknown (many).
- Assessment — detailed history, family history, examination (growth, head size, dysmorphic features, skin — neurocutaneous signs, neurology), hearing and vision tests.
- Investigations (specialist) — chromosomal microarray and genetic tests (fragile X), TFTs, CK (boys with motor delay), lead, metabolic tests, MRI if neurological signs or head size abnormal.
- Management — multidisciplinary child development team (paediatrician, physiotherapy, occupational therapy, speech and language therapy, educational psychology); education support — Education, Health and Care plan (EHCP); family support and benefits.
Speech, Language and Hearing
- Speech and language delay — common (about 1 in 10); boys more than girls.
- Causes:
- Hearing loss — always test hearing (glue ear is the commonest cause).
- Autism (with social communication problems).
- Global developmental delay or learning disability.
- Developmental language disorder (specific).
- Lack of stimulation; neglect.
- Structural — cleft palate, tongue problems.
- Bilingual homes — normal milestones across both languages combined.
- Stammering (stuttering) — common between 2 and 5; most resolve; refer if persistent or distressing.
- Hearing loss in children:
- Congenital — genetic (connexin 26), CMV, rubella, prematurity, meningitis, kernicterus, ototoxic drugs; detected by newborn screening.
- Acquired — glue ear (conductive), meningitis (sensorineural — check hearing after every case), mumps, measles, head injury.
- Tests — newborn screening; distraction testing (6–18 months), visual reinforcement audiometry, play audiometry, pure-tone audiometry (school age).
- Management — hearing aids, cochlear implants, grommets for glue ear, speech therapy, sign language, education support.
Learning Disability
- Definition — significantly reduced ability to understand new or complex information and learn new skills, with reduced ability to cope independently, starting in childhood. (Learning difficulty — e.g. dyslexia — is a specific problem without overall intellectual impairment.)
- Severity — mild (IQ about 50–69), moderate (35–49), severe (20–34), profound (under 20).
- Causes — as for global developmental delay (Down syndrome and fragile X are the commonest genetic causes).
- Health issues — epilepsy, sensory impairment, constipation, reflux, dental problems, obesity or underweight, mental health problems, behaviour that challenges (often communicating pain or distress), early death.
- Good care:
- Reasonable adjustments — easy-read information, longer appointments, involve carers.
- Annual health checks from age 14.
- Hospital passports.
- Mental Capacity Act for those aged 16 and over.
- Avoid "diagnostic overshadowing" (blaming new symptoms on the disability).
- LeDeR — learning from deaths of people with a learning disability.
Infant Feeding and Weaning
- Milk:
- Exclusive breastfeeding for around the first 6 months (see the Labour, Birth and Postnatal Care chapter).
- First infant formula (cow's milk based) is the only formula needed until 12 months; "follow-on" and "growing up" milks aren't necessary.
- Cow's milk as a main drink only from 12 months (can be used in cooking from 6 months). Too much cow's milk (over about 500 mL a day) in toddlers causes iron deficiency.
- Water — tap water (boiled until 6 months) is fine.
- Weaning (introducing solid food):
- At around 6 months (not before 17 weeks).
- Signs of readiness — sits up, holds head steady, coordinates hands and mouth, swallows food.
- Start with smooth or soft foods, then mashed and finger foods; move to family foods by 12 months.
- Common allergens (egg, peanut, milk, wheat, fish) can be introduced from around 6 months, one at a time — early introduction may reduce allergy risk.
- Avoid — honey under 1 year (infant botulism); whole nuts under 5 (choking); added salt and sugar; rice milk under 5 (arsenic); raw or lightly cooked eggs without the Lion mark; shark, swordfish, marlin.
- Vitamins — vitamins A, C and D drops for children aged 6 months to 5 years (unless having over 500 mL of formula a day); vitamin D from birth for breastfed babies.
- Vegan or vegetarian diets — need careful planning (B12, iron, iodine, calcium, vitamin D, omega-3); dietitian advice.
Cow's Milk Allergy and Food Allergy
- Cow's milk protein allergy (CMPA) — the commonest food allergy in infants (about 2–3%); usually starts when formula or dairy is introduced (can occur in breastfed babies through the mother's diet).
- Two types:
- IgE-mediated (fast — within minutes to 2 hours) — urticaria, lip and face swelling, vomiting, wheeze, anaphylaxis. Tests — skin prick or specific IgE.
- Non-IgE-mediated (delayed — hours to days) — reflux and vomiting, colic and irritability, eczema, diarrhoea, constipation, blood and mucus in stools, faltering growth. Diagnosed by elimination and reintroduction.
- Management:
- Formula-fed — extensively hydrolysed formula first line; amino acid formula if severe, anaphylaxis, or no response.
- Breastfed — continue breastfeeding; the mother avoids all dairy (with calcium and vitamin D supplements).
- Soya formula — not under 6 months (phytoestrogens).
- Reintroduction — most outgrow non-IgE CMPA by 1–3 years; reintroduce gradually using the "milk ladder" at home (non-IgE) or in hospital (IgE).
- Dietitian support (calcium, growth).
- Lactose intolerance — not an allergy; secondary lactose intolerance after gastroenteritis (diarrhoea, bloating) is common and temporary; primary lactose intolerance develops later in childhood in some ethnic groups.
- Other food allergies — egg, peanut, tree nuts, sesame, fish, shellfish:
- Eczema in infancy raises the risk (skin barrier).
- Adrenaline auto-injectors (two to carry at all times) and an allergy action plan for children at risk of anaphylaxis; train families and schools.
- Peanut and tree nut allergy usually persist; milk and egg often outgrown.
Crying Babies and Colic
- Normal crying peaks at about 6 weeks and settles by 3–4 months.
- Infantile colic — repeated episodes of excessive, inconsolable crying in a healthy, thriving baby under 3–4 months (often in the evening), with drawing up of the legs and a red face.
- "Rule of threes" — crying for over 3 hours a day, over 3 days a week, for over 3 weeks.
- Management — reassurance (it settles), holding, soothing, white noise, support for parents; check feeding technique. Simeticone, lactase drops and probiotics have limited evidence. A trial of hydrolysed formula if CMPA suspected.
- Look for other causes — infection (UTI, otitis media, meningitis), hunger, reflux, CMPA, constipation, hernia, testicular torsion, hair tourniquet, fracture or injury (NAI), raised intracranial pressure.
- Crying is the main trigger for shaking — teach coping strategies ("ICON": Infant crying is normal, Comforting methods can help, It's OK to walk away, Never shake a baby).
- Red flags — fever, poor feeding, vomiting (especially bilious), weight loss, high-pitched or weak cry, lethargy, bruising, bulging fontanelle.
Rickets and Vitamin D
- Rickets — poor mineralisation of growing bones (osteomalacia in adults), usually from vitamin D deficiency.
- Risk factors — darker skin, covered skin, little sunlight, exclusive breastfeeding without vitamin D drops, maternal deficiency, restrictive diets, malabsorption (coeliac, CF), CKD, liver disease, anticonvulsants.
- Features:
- Bowed legs (genu varum) or knock knees; widened wrists and ankles.
- Rachitic rosary (swelling at the rib–cartilage joints); Harrison's sulcus.
- Delayed walking, waddling gait, bone pain, muscle weakness.
- Delayed tooth eruption, enamel problems; delayed fontanelle closure; frontal bossing.
- Hypocalcaemia — tetany, seizures, and rarely cardiomyopathy (infants).
- Tests — low 25-OH vitamin D, low or normal calcium, low phosphate, raised ALP, raised PTH; X-ray of the wrist — cupping, splaying and fraying of the metaphyses.
- Treatment — colecalciferol (treatment doses for 8–12 weeks, then maintenance); calcium supplements; treat family members; IV calcium for symptomatic hypocalcaemia.
- Other types — X-linked hypophosphataemic rickets (low phosphate, normal vitamin D — burosumab), renal rickets (CKD).
- Prevention — vitamin D supplements for breastfed babies, all children 6 months–5 years, pregnant and breastfeeding women.
Iron Deficiency and Other Deficiencies
- Iron deficiency anaemia — the commonest nutritional deficiency in children:
- Toddlers — excessive cow's milk (low in iron, displaces food, can cause gut blood loss), late weaning, poor diet; adolescent girls — heavy periods, diet.
- Preterm babies (low stores); coeliac disease; IBD; chronic blood loss.
- Features — pallor, tiredness, irritability, poor appetite, pica, poor concentration; developmental effects.
- Management — limit cow's milk to about 500 mL a day; iron-rich foods; oral iron (e.g. sodium feredetate or ferrous fumarate) for about 3 months after Hb normalises.
- Vitamin B12 deficiency — breastfed babies of vegan mothers or mothers with pernicious anaemia: developmental regression, anaemia.
- Malnutrition (undernutrition) — wasting (low weight for height), stunting (low height for age); in the UK linked to poverty, neglect, chronic illness, eating disorders; risk of refeeding syndrome.
- Scurvy (vitamin C) — rare; very restricted diets (autism): bleeding gums, bone pain, poor wound healing.
- Iodine — mild deficiency in some UK diets (dairy and fish are main sources).
Drug Reference Table
| Drug / product | Key points |
|---|---|
| 6-in-1 vaccine (DTaP/IPV/Hib/HepB) | 8, 12, 16 weeks and 18 months (new schedule). |
| MenB vaccine | 8 and 12 weeks, booster at 1 year; give paracetamol after infant doses. |
| Rotavirus vaccine (oral, live) | 8 and 12 weeks; first dose by 15 weeks, course done by 24 weeks. |
| MMRV vaccine (live) | 1 year and 18 months; not in significant immunosuppression. |
| Live attenuated influenza vaccine (nasal) | Yearly from age 2; not in severe immunosuppression or active wheeze. |
| Paracetamol (infant) | After MenB vaccines; fever and pain. |
| Vitamins A, C and D drops | 6 months to 5 years (Healthy Start). |
| Colecalciferol | Prevention (400 units) and treatment of vitamin D deficiency and rickets. |
| Sodium feredetate / ferrous fumarate | Iron deficiency anaemia; dark stools, constipation. |
| Extensively hydrolysed formula | First line for cow's milk protein allergy. |
| Amino acid formula | Severe CMPA, anaphylaxis, or failure of hydrolysed formula. |
| Adrenaline auto-injector | Children at risk of anaphylaxis — carry two; dose by weight. |
| Growth hormone (somatropin) | GH deficiency, Turner, Prader–Willi, CKD, SGA without catch-up, SHOX. |
| GnRH agonist (leuprorelin, triptorelin) | Central precocious puberty. |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| Short, growing along the 2nd centile, short parents, normal bone age | Familial short stature |
| Short 13-year-old boy, delayed bone age, father was a late developer | Constitutional delay of growth and puberty |
| Short girl with a webbed neck and widely spaced nipples | Turner syndrome |
| Short and overweight child, slowing height, dry skin | Hypothyroidism |
| Weight falling from 50th to 9th centile with loose pale stools after starting wheat | Coeliac disease |
| Breast budding at age 6 | Precocious puberty (girls usually idiopathic central) |
| Puberty at age 7 in a boy with large testes | Central precocious puberty — MRI brain |
| Pubic hair in a boy of 6 with small testes | Peripheral cause — CAH or adrenal tumour |
| No breast development at 14, high FSH | Hypergonadotrophic hypogonadism (Turner) |
| 18-month-old boy not walking, large calves, Gowers' sign | Duchenne muscular dystrophy — check CK |
| Clear right-hand preference at 8 months | Possible left hemiplegia (cerebral palsy) |
| Loss of words and hand-wringing in a girl aged 2 | Rett syndrome |
| 2-year-old with few words and recurrent ear infections | Hearing loss from glue ear |
| Blood and mucus in stools and eczema in a formula-fed baby | Non-IgE cow's milk protein allergy |
| Hives and vomiting minutes after first formula | IgE-mediated cow's milk allergy |
| Pale, tired toddler drinking 1.5 litres of cow's milk a day | Iron deficiency anaemia |
| Bowed legs, wide wrists, raised ALP in a breastfed toddler with dark skin | Nutritional rickets |
| Floppy baby who later has an insatiable appetite and learning disability | Prader–Willi syndrome |
Exam-style Scenarios
1. A 9-month-old's weight has dropped from the 50th to the 9th centile over 3 months since starting solids. Stools are pale and bulky. He is irritable with a distended abdomen.
Answer: Faltering growth — suspected coeliac disease.
- Coeliac serology (tTG IgA with total IgA) while eating gluten; FBC, ferritin.
- Paediatric gastroenterology referral; dietitian.
- Consider CF (sweat test) if respiratory symptoms.
2. A 7-year-old girl has breast development and pubic hair. She is on the 91st centile for height (previously 50th).
Answer: Precocious puberty.
- Bone age, LH/FSH (GnRH stimulation), oestradiol, pelvic ultrasound; MRI brain (especially if under 6 or neurological signs).
- GnRH agonist if central and progressive.
3. A 2-year-old says only 3 words, doesn't point, and doesn't respond to his name. He lines up toys.
Answer: Speech delay with social communication concerns — possible autism.
- Hearing test.
- Refer to the autism assessment team or child development service; speech and language therapy.
4. A 4-month-old breastfed baby has blood-streaked stools, eczema and frequent vomiting, but is gaining weight.
Answer: Non-IgE cow's milk protein allergy.
- Continue breastfeeding; mother avoids all dairy (with calcium and vitamin D) for 2–4 weeks.
- If formula needed — extensively hydrolysed formula.
- Reintroduce later using the milk ladder; dietitian.
5. A parent asks whether her healthy 8-week-old, born at 30 weeks, should have vaccines now or wait until she reaches 8 weeks corrected age.
Answer: Vaccinate at chronological age.
- Give 8-week vaccines now (6-in-1, MenB, rotavirus); paracetamol after MenB.
- Check rotavirus timing (first dose by 15 weeks).
Key Points
- New UK schedule: 6-in-1 at 8, 12, 16 weeks and 18 months; MenB at 8 and 12 weeks; PCV at 16 weeks; MMRV at 1 year and 18 months.
- Vaccinate preterm babies at chronological age; rotavirus first dose by 15 weeks.
- Few true contraindications: anaphylaxis, and live vaccines in significant immunosuppression.
- Plot every measurement; crossing two centile lines needs explanation; calculate mid-parental height.
- Faltering growth: usually inadequate intake — but think coeliac, CF, CMPA, heart disease and neglect.
- Short stature: familial and constitutional delay are commonest; always consider Turner syndrome in girls and hypothyroidism.
- Precocious puberty: before 8 (girls) or 9 (boys); usually idiopathic in girls, often pathological in boys.
- Delayed puberty: no breasts by 13 or testicular enlargement by 14; constitutional delay is commonest.
- Milestone red flags: no smile at 8 weeks, not walking at 18 months, no words at 18 months, early hand preference, any regression.
- Always test hearing in speech delay.
- Wean at around 6 months; no cow's milk as a main drink before 12 months; no honey under 1.
- CMPA: extensively hydrolysed formula first; mother avoids dairy if breastfeeding; milk ladder later.
- Colic is a diagnosis of exclusion in a thriving baby; teach ICON to prevent shaking.
- Rickets: bowed legs, wide wrists, raised ALP, low vitamin D — colecalciferol; vitamin D drops prevent it.
- Toddler iron deficiency: too much cow's milk — limit to about 500 mL a day.
Guidelines and Further Reading
- UKHSA: Immunisation against infectious disease (the Green Book); routine childhood immunisation schedule (2025–26 changes)
- NICE NG75: Faltering growth — recognition and management
- NICE TA188: Human growth hormone for growth failure in children
- NICE NG246: Overweight and obesity management
- RCPCH: UK-WHO growth charts and guidance
- NICE CG116: Food allergy in under 19s; iMAP and MAP milk allergy guidelines
- NHS Healthy Child Programme; Healthy Start
- BNF for Children — for current doses
2. Neonatology
👶 Neonatology covers the first 28 days of life. Most babies are healthy, and much of the work is reassurance — explaining normal findings and supporting feeding. But newborns show illness in vague ways (poor feeding, lethargy, temperature instability, jaundice), and infection, hypoglycaemia and heart disease can deteriorate fast. The newborn examination and screening programmes pick up hidden problems early.
Your four questions for every baby: Was the baby born at term, and were there risk factors (prolonged rupture of membranes, maternal fever, GBS, diabetes)? Is the baby feeding, alert and warm? Are there red flags — jaundice in the first 24 hours, breathing difficulty, cyanosis, bilious vomiting, collapse? Has the newborn examination and screening been done?
Newborn Life Support
- Most babies need only drying and warmth; about 1 in 10 need some help to start breathing.
- Before birth — check equipment; warm environment; ask about gestation, meconium, and risk factors.
- Deferred cord clamping — at least 60 seconds for well babies (and preterm babies if possible).
- Steps (Resuscitation Council UK):
- Dry and wrap the baby (term), stimulate; keep warm. Preterm under 32 weeks — place in a plastic bag without drying, under a radiant heater, with a hat.
- Assess — tone, breathing, heart rate (stethoscope; ECG leads or oximetry help).
- Airway — head in the neutral position (a towel under the shoulders can help); jaw thrust.
- If not breathing — give 5 inflation breaths (each 2–3 seconds) with a face mask — air for term babies (21–30% oxygen for preterm babies).
- Reassess heart rate — if rising, continue ventilation breaths (about 30 a minute) until breathing well.
- If heart rate stays under 60/min after 30 seconds of effective ventilation — start chest compressions at a ratio of 3 compressions to 1 breath (encircling technique, lower third of sternum), and increase oxygen to 100%.
- Drugs (via umbilical venous catheter) — adrenaline; glucose; volume (saline or O-negative blood) if blood loss.
- Apgar score at 1, 5 and 10 minutes:
| Sign (0, 1 or 2 points each) | Scoring |
|---|---|
| Appearance (colour) | Blue or pale (0); body pink, limbs blue (1); all pink (2) |
| Pulse (heart rate) | Absent (0); under 100 (1); over 100 (2) |
| Grimace (reflex irritability) | None (0); grimace (1); cry, cough or sneeze (2) |
| Activity (tone) | Floppy (0); some flexion (1); active movement (2) |
| Respiration | Absent (0); weak or irregular (1); strong cry (2) |
- A score of 7–10 is normal; low scores at 5 minutes and beyond suggest the need for continued resuscitation.
- Meconium-stained liquor — don't routinely suction; if the baby is not breathing, start inflation breaths (inspect and clear the airway under direct vision if obstructed).
The Newborn Examination (NIPE)
- NHS Newborn and Infant Physical Examination (NIPE) — a full top-to-toe check within 72 hours of birth, and again at 6–8 weeks (GP).
- The four NIPE screening areas:
- Eyes — red reflex: absent or abnormal suggests congenital cataract or retinoblastoma — refer urgently.
- Heart — murmurs, heart rate, femoral pulses (coarctation), cyanosis.
- Hips — Barlow and Ortolani tests for developmental dysplasia of the hip.
- Testes (boys) — both descended? Undescended testes at 6–8 weeks need referral (bilateral undescended testes at birth — urgent review for disorders of sex development).
- Also check:
- Weight, length, head circumference (plotted on the growth chart).
- Head — fontanelles (bulging or sunken), sutures, shape, caput, cephalhaematoma.
- Face — dysmorphic features, palate (look and feel — a cleft of the soft palate can be missed).
- Skin — jaundice, birthmarks, pallor, bruising.
- Chest — breathing rate and effort.
- Abdomen — masses, organomegaly, umbilical cord, anus (patent and in the right place), genitalia (hypospadias, ambiguous genitalia).
- Spine — midline swellings, sacral dimples, hair tufts (spina bifida occulta).
- Limbs — digits, talipes, brachial plexus injury, clavicles.
- Neurology — tone, posture, cry, Moro and sucking reflexes.
- Passing urine and meconium within 24 hours (delayed meconium — Hirschsprung's disease, cystic fibrosis).
Newborn Screening
- Newborn blood spot test ("heel prick") — at about day 5 (between day 5 and 8). Screens for:
- Sickle cell disease.
- Cystic fibrosis (immunoreactive trypsinogen).
- Congenital hypothyroidism (TSH).
- Inherited metabolic diseases — phenylketonuria (PKU), MCADD (medium-chain acyl-CoA dehydrogenase deficiency), maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, homocystinuria.
- (Screening for severe combined immunodeficiency has also been evaluated in parts of England.)
- Newborn hearing screening — automated otoacoustic emissions (before discharge or in the first weeks); if no clear response, automated auditory brainstem response; then audiology. Early diagnosis improves speech and language.
- NIPE — eyes, heart, hips, testes (above).
- Antenatal results to check — maternal infections (HIV, hepatitis B, syphilis), blood group and antibodies, GBS, anomaly scan findings.
Normal Findings That Worry Parents
- Skin:
- Erythema toxicum — blotchy red patches with white or yellow centres in the first days; harmless, moves around, settles in a week.
- Milia — tiny white spots on the nose (blocked sebaceous glands).
- Congenital dermal melanocytosis ("Mongolian blue spots") — blue-grey patches, often on the lower back and buttocks, in babies with darker skin. Document them at the newborn check so they aren't mistaken for bruises.
- Stork marks (salmon patches) — pink marks on the eyelids, forehead and back of the neck; fade (the neck may persist).
- Peripheral cyanosis (blue hands and feet — acrocyanosis) in the first days.
- Head:
- Caput succedaneum — soft swelling of the scalp over the presenting part, crosses suture lines, settles in days.
- Moulding of the skull bones.
- Breast swelling (both sexes) and small vaginal bleeds in girls — from maternal hormones.
- Umbilical hernia — common (especially in Black babies); most close by 3–5 years.
- Sticky eyes — blocked tear duct (clean with cooled boiled water).
- Hiccups, sneezing, irregular breathing during sleep (periodic breathing).
- Weight loss of up to 10% in the first days (see Feeding).
- Physiological jaundice — after day 1, settling within 2 weeks.
- Positional talipes — foot can be moved fully to the normal position (corrects itself), unlike structural talipes (see the Neurology and MSK chapter).
Feeding, Weight and Vitamins
- Weight — babies normally lose up to 10% of birth weight in the first few days and regain it by 2 weeks.
- Weight loss over 10% — assess feeding (often breastfeeding difficulty), check for hypernatraemic dehydration (sodium, jaundice), infection.
- Feeding — breastfeeding support (see the Labour, Birth and Postnatal Care chapter); term babies feed 8–12 times in 24 hours; formula about 150 mL/kg/day once established.
- Signs of good feeding — 6 or more wet nappies a day after day 5, yellow stools, alert, regaining weight.
- Vitamin K — offered to all newborns (1 mg IM at birth, or an oral regimen) to prevent vitamin K deficiency bleeding (haemorrhagic disease of the newborn) — can cause brain bleeds, especially in exclusively breastfed babies.
- Vitamin D — breastfed babies should have vitamin D drops (8.5–10 micrograms a day) from birth; formula-fed babies need it only if having under 500 mL of formula a day.
- Healthy Start vitamins for eligible families.
Safe Sleep and SUDI
- Sudden unexpected death in infancy (SUDI) — most often in the first 6 months; sudden infant death syndrome (SIDS) when no cause is found.
- Safe sleep advice (Lullaby Trust):
- On the back for every sleep ("back to sleep").
- Feet to foot of the cot; firm, flat, waterproof mattress; no pillows, bumpers or soft toys.
- Room-share (in a cot in the parents' room) for the first 6 months.
- Smoke-free — in pregnancy and around the baby (the biggest modifiable risk).
- Don't co-sleep on a sofa or armchair, or in a bed if a parent has drunk alcohol, taken drugs or sedating medicines, smokes, or if the baby was preterm or low birth weight.
- Avoid overheating; no hats indoors.
- Breastfeeding and using a dummy at sleep times may reduce risk.
- After a sudden infant death — joint agency response (police, paediatrician, social care); child death review; bereavement support.
Neonatal Jaundice
- Very common — about 60% of term and 80% of preterm babies.
- Why — high red cell mass with shorter red cell life, immature liver conjugation, increased gut reabsorption.
- Types and causes:
| Timing | Causes |
|---|---|
| Within the first 24 hours — always pathological | Haemolysis — rhesus or ABO incompatibility, G6PD deficiency, hereditary spherocytosis; sepsis; congenital infection |
| Day 2–14 | Physiological (most); breast milk jaundice; dehydration from poor feeding; bruising (cephalhaematoma); infection; haemolysis; polycythaemia |
| Prolonged — over 14 days (term) or 21 days (preterm) | Breast milk jaundice; infection (UTI); hypothyroidism; biliary atresia and other cholestasis (conjugated); galactosaemia |
- Assessment (NICE CG98):
- Look for jaundice in good natural light (blanch the skin; check the gums and sclerae in darker skin).
- Don't rely on visual inspection to estimate the level — measure.
- Transcutaneous bilirubinometer in babies over 35 weeks and over 24 hours old; serum bilirubin if within 24 hours, under 35 weeks, or high readings.
- Plot on a gestation-specific treatment threshold chart.
- Risk factors for significant jaundice — gestation under 38 weeks, a sibling who needed phototherapy, exclusive breastfeeding, visible jaundice in the first 24 hours.
- Tests (if significant or early) — FBC, blood film, blood group (baby and mother), direct antiglobulin test (Coombs — haemolytic disease), G6PD (by ethnicity), infection screen; conjugated bilirubin if prolonged.
- Treatment:
- Phototherapy — blue light converts bilirubin to a water-soluble form; based on the threshold chart. Keep feeding; cover eyes; monitor temperature and hydration.
- Exchange transfusion — very high levels or signs of bilirubin encephalopathy.
- IVIG — rhesus or ABO haemolytic disease with rapidly rising bilirubin.
- Kernicterus (bilirubin encephalopathy) — unconjugated bilirubin crosses into the brain: lethargy, poor feeding, high-pitched cry, hypertonia, arching (opisthotonus), seizures; long term — cerebral palsy (dyskinetic), deafness, learning disability.
⚠️ Safety Pearl: Jaundice in the first 24 hours of life is always abnormal — measure bilirubin urgently (within 2 hours) and look for haemolysis or sepsis.
Prolonged Jaundice
- Definition — jaundice lasting over 14 days in term babies (over 21 days in preterm).
- Prolonged jaundice screen:
- Total and conjugated (direct) bilirubin — the key test.
- FBC, blood group and DAT.
- TFTs (if newborn screening not done or abnormal).
- Urine culture (UTI).
- Urine for reducing substances (galactosaemia), LFTs.
- Ask about stool and urine colour.
- Unconjugated — usually breast milk jaundice (well baby, gaining weight — continue breastfeeding); also hypothyroidism, haemolysis, infection, Gilbert's or Crigler–Najjar syndrome.
- Conjugated hyperbilirubinaemia (conjugated over 25 µmol/L, or over 20% of total) — always pathological, needs urgent assessment:
- Biliary atresia — pale (chalky) stools, dark urine, enlarged liver; progressive destruction of the bile ducts. Kasai portoenterostomy works best before 6–8 weeks; many later need a liver transplant. Use a stool colour chart.
- Neonatal hepatitis (infections — CMV, TORCH), alpha-1 antitrypsin deficiency, Alagille syndrome, choledochal cyst, cystic fibrosis, parenteral nutrition, galactosaemia.
💡 Clinical Pearl: A jaundiced baby over 2 weeks old with pale stools and dark urine has biliary atresia until proven otherwise. Check the conjugated bilirubin — early surgery saves livers.
Breathing Problems in the Newborn
- Signs of respiratory distress — fast breathing (over 60/min), grunting, nasal flaring, recession (subcostal, intercostal), head bobbing, cyanosis, apnoea.
- Transient tachypnoea of the newborn (TTN):
- Delayed clearance of lung fluid — the commonest cause; after caesarean (especially without labour) or fast births.
- Fast breathing in the first hours; chest X-ray — fluid in the fissures.
- Supportive (oxygen if needed); settles within 24–48 hours. Exclude infection.
- Respiratory distress syndrome (surfactant deficiency):
- Preterm babies (especially under 32 weeks); also babies of diabetic mothers.
- Worsening distress from birth; chest X-ray — "ground glass" with air bronchograms.
- Prevention — antenatal steroids.
- Treatment — CPAP; surfactant via the trachea (LISA or intubation); ventilation if needed.
- Meconium aspiration syndrome — post-term or distressed babies inhale meconium: chemical pneumonitis, airway blockage, pulmonary hypertension. Supportive care, ventilation, surfactant.
- Congenital pneumonia and sepsis (GBS) — always consider; antibiotics.
- Pneumothorax — sudden deterioration (especially on ventilation); transillumination; chest drain.
- Persistent pulmonary hypertension of the newborn — high lung blood pressure after birth, shunting through the duct and foramen ovale: severe hypoxia. Ventilation, nitric oxide, ECMO.
- Congenital diaphragmatic hernia — bowel in the chest (usually left): scaphoid abdomen, bowel sounds in the chest, displaced heart sounds. Often diagnosed antenatally. Don't use bag-and-mask ventilation (inflates the bowel) — intubate, NG tube; surgery after stabilisation.
- Choanal atresia — cyanosis when feeding that improves when crying.
Neonatal Infection
- Early-onset infection (within 72 hours) — from the mother around birth:
- Group B streptococcus (the commonest), E. coli, Listeria.
- Risk factors — maternal GBS colonisation or previous GBS baby, prelabour rupture of membranes over 18–24 hours, preterm birth, maternal fever or chorioamnionitis, maternal sepsis, infection in a twin.
- Late-onset infection (after 72 hours) — often from the environment: coagulase-negative staphylococci (central lines in preterm babies), Staph aureus, E. coli, GBS, Klebsiella.
- Signs — often subtle:
- Poor feeding, lethargy, irritability.
- Temperature instability (fever or low temperature).
- Breathing difficulty, apnoea, grunting.
- Tachycardia or bradycardia; poor perfusion; mottled skin.
- Jaundice in the first 24 hours; hypoglycaemia; seizures; bulging fontanelle (meningitis).
- Management (NICE NG195):
- Use a risk assessment (red flags and other indicators; the Kaiser Permanente sepsis calculator is used in many UK units).
- Red flags (any one = treat) — suspected or confirmed infection in another baby (twin), parenteral antibiotics for confirmed maternal sepsis in labour, respiratory distress starting over 4 hours after birth, seizures, need for mechanical ventilation in a term baby, signs of shock.
- Blood culture, FBC, CRP (at baseline and at 18–24 hours); lumbar puncture if strong suspicion or signs of meningitis.
- Early-onset — IV benzylpenicillin with gentamicin, within 1 hour of the decision.
- Meningitis — cefotaxime (or ceftriaxone after the first days) plus amoxicillin (Listeria).
- Late-onset (in the community) — e.g. cefotaxime plus amoxicillin; on neonatal units per local policy.
- Stop antibiotics at 36 hours if cultures are negative, CRP is low and the baby is well.
- Other important neonatal infections — herpes simplex (vesicles, seizures, liver failure — IV aciclovir), congenital CMV, toxoplasmosis, syphilis, HIV and hepatitis B exposure (see the Medical Problems in Pregnancy chapter), conjunctivitis (gonococcal, chlamydial).
- Fever in any baby under 3 months — see the Paediatric Infections chapter (high risk).
Neonatal Hypoglycaemia
- Glucose normally dips in the first hours after birth; healthy term babies use other fuels (ketones). Routine glucose checks in healthy term babies are not needed.
- At-risk babies (check glucose before the second feed, about 2–4 hours after birth):
- Infant of a diabetic mother (high insulin).
- Small for gestational age or growth-restricted (low stores).
- Preterm (under 37 weeks).
- Hypothermia; sepsis; perinatal asphyxia.
- Mother on beta-blockers (labetalol) in late pregnancy.
- Rare — congenital hyperinsulinism, Beckwith–Wiedemann syndrome, inborn errors of metabolism, hypopituitarism.
- Definition (BAPM) — glucose under 2.0 mmol/L in at-risk babies requires action (or under 2.6 with symptoms); local thresholds vary.
- Signs — jitteriness, poor feeding, drowsiness, floppiness, apnoea, hypothermia, seizures — or none.
- Management:
- Feed early (within the first hour) and often; skin-to-skin; keep warm.
- Buccal dextrose gel 40% (200 mg/kg) massaged into the cheek, plus a feed.
- IV 10% glucose — bolus of 2 mL/kg then infusion if severe, symptomatic, or not responding.
- Persistent or recurrent — investigate (insulin, cortisol, growth hormone, ketones, metabolic tests at the time of hypoglycaemia).
- Untreated severe hypoglycaemia causes brain injury.
Neonatal Abstinence Syndrome
- What it is: Withdrawal in a baby exposed in the womb to opioids (heroin, methadone, buprenorphine), benzodiazepines, or other drugs.
- Onset — usually within 1–3 days (later with methadone, up to 7 days).
- Features:
- Irritability, high-pitched cry, tremors, increased tone, poor sleep.
- Poor feeding, vomiting, diarrhoea, poor weight gain.
- Sweating, sneezing, yawning, fast breathing, fever.
- Seizures (severe).
- Management:
- Observe for at least 3–5 days with a scoring tool (e.g. modified Finnegan).
- Supportive — skin-to-skin, swaddling, low-stimulation environment, small frequent feeds; breastfeeding is encouraged if the mother is stable on substitution therapy and HIV-negative.
- Oral morphine for opioid withdrawal if scores are high; phenobarbital for polydrug use.
- Safeguarding assessment and support for the family.
- SSRIs in late pregnancy — "neonatal adaptation syndrome": jitteriness, poor feeding, breathing problems; usually mild and short-lived.
- Fetal alcohol spectrum disorder — smooth philtrum, thin upper lip, short palpebral fissures, small head, growth restriction, learning and behaviour problems.
Problems of Prematurity
- Preterm — born before 37 weeks; extremely preterm under 28 weeks. Survival at 24 weeks is now around 60–70% in UK neonatal units, with high rates of disability.
- Corrected age — use the age from the due date when assessing growth and development, until about 2 years.
- Problems:
- Breathing — respiratory distress syndrome; apnoea of prematurity (treated with caffeine); bronchopulmonary dysplasia (chronic lung disease — oxygen need at 36 weeks corrected).
- Brain — intraventricular haemorrhage (first days, most under 32 weeks; screened with cranial ultrasound); periventricular leukomalacia (white matter damage — spastic diplegia); hydrocephalus.
- Gut — necrotising enterocolitis; feeding intolerance.
- Heart — patent ductus arteriosus (bounding pulses, murmur; ibuprofen or paracetamol to close it, or surgery).
- Eyes — retinopathy of prematurity (screen under 31 weeks or under 1,501 g).
- Infection — immature immunity, lines.
- Temperature — hypothermia (thin skin, little fat).
- Metabolic — hypoglycaemia; jaundice; anaemia of prematurity; metabolic bone disease.
- Long-term — cerebral palsy, learning difficulties, ADHD and autism (more common), visual and hearing impairment, chronic lung disease, poor growth. Neurodevelopmental follow-up to 2 years corrected.
- Breast milk (mother's own or donor) reduces NEC and infection.
Necrotising Enterocolitis
- What it is: Inflammation and death of the bowel wall — mainly in preterm babies, usually in the first 2 weeks after feeds begin.
- Risk factors — prematurity, low birth weight, formula feeding, growth restriction, perinatal asphyxia, congenital heart disease, sepsis.
- Features:
- Feed intolerance, bilious (green) aspirates or vomiting.
- Abdominal distension and tenderness; discoloured abdominal wall.
- Blood in the stools.
- Signs of sepsis — apnoea, temperature instability, shock.
- Abdominal X-ray:
- Dilated bowel loops, thickened bowel walls.
- Pneumatosis intestinalis (gas in the bowel wall) — diagnostic.
- Portal venous gas.
- Pneumoperitoneum (perforation) — e.g. the "football sign".
- Management:
- Stop feeds (nil by mouth), NG tube on free drainage.
- IV broad-spectrum antibiotics; IV fluids; parenteral nutrition.
- Surgical review — laparotomy for perforation or deterioration (bowel resection, stoma).
- Complications — strictures, short bowel syndrome, death.
Hypoxic-ischaemic Encephalopathy
- What it is: Brain injury from lack of oxygen or blood flow around birth (e.g. abruption, cord prolapse, uterine rupture, prolonged difficult birth).
- Signs — low Apgar scores, need for resuscitation, metabolic acidosis on cord gases, then encephalopathy:
- Mild — irritability, jitteriness, hyperalert.
- Moderate — lethargy, low tone, poor feeding, seizures.
- Severe — coma, floppiness, absent reflexes, prolonged seizures, multi-organ failure.
- Management:
- Therapeutic hypothermia (cooling to 33–34 °C for 72 hours, started within 6 hours of birth) for term or near-term babies with moderate to severe HIE — reduces death and disability.
- Supportive care — breathing, BP, glucose, fluids (kidney injury), treat seizures; cerebral function monitoring (aEEG); MRI brain.
- Outcomes — mild usually good; moderate to severe — risk of cerebral palsy (often dyskinetic or quadriplegic), learning disability, epilepsy, death.
Birth Injuries
| Injury | Features |
|---|---|
| Caput succedaneum | Soft scalp swelling at birth that crosses sutures; resolves in days |
| Cephalhaematoma | Bleeding under the periosteum — appears hours after birth, doesn't cross sutures (usually over the parietal bone); resolves over weeks; can cause jaundice |
| Subgaleal haemorrhage | Bleeding under the scalp aponeurosis (often after ventouse) — boggy swelling crossing sutures, spreading to the neck and eyelids; can cause massive blood loss and shock — emergency |
| Erb's palsy (C5–C6) | After shoulder dystocia: arm hangs limp, internally rotated, pronated, wrist flexed — "waiter's tip"; most recover within months; physiotherapy |
| Klumpke's palsy (C8–T1) | Weak hand ("claw hand"), may have Horner syndrome; less common |
| Clavicle fracture | After shoulder dystocia; reduced arm movement, crepitus; heals quickly |
| Facial nerve palsy | After forceps; one side of the face doesn't move when crying; usually recovers |
| Skull fracture and intracranial bleeding | Rare; difficult instrumental births |
Developmental Dysplasia of the Hip
- What it is: An abnormally formed hip joint — from a shallow socket to a dislocated hip. More common in girls and the left hip.
- Risk factors (NIPE):
- First-degree family history of hip problems in early life.
- Breech presentation at or after 36 weeks (or at birth if earlier), whatever the method of birth; breech in a twin.
- Also — first baby, oligohydramnios, high birth weight, tight swaddling.
- Examination (newborn and 6–8 weeks):
- Barlow test — dislocates an unstable hip by pushing the flexed thigh backwards.
- Ortolani test — relocates a dislocated hip by abducting the flexed thigh (a "clunk").
- Later signs (older babies) — limited abduction, leg length difference, asymmetrical thigh creases, limp or waddling gait when walking.
- Imaging:
- Hip ultrasound by 6 weeks for babies with risk factors (and within 2 weeks if an abnormal examination).
- X-ray after about 4–6 months (when the femoral head ossifies).
- Treatment:
- Pavlik harness (holds hips flexed and abducted) — under 6 months; for 6–12 weeks or more.
- Older babies or failed harness — closed or open reduction under anaesthetic and a spica cast; osteotomy later.
- Untreated — limp, early arthritis, leg length difference.
Cleft Lip and Palate
- What it is: Failure of the lip and/or palate to fuse during early pregnancy. About 1 in 700 babies.
- Associations — family history, maternal smoking, antiepileptics (valproate, phenytoin), folate deficiency; syndromes (22q11 deletion, Pierre Robin sequence — small jaw, cleft palate, breathing problems).
- Diagnosis — cleft lip is often seen on the 20-week scan; cleft palate may be missed — look and feel the palate at the newborn examination.
- Problems:
- Feeding — difficulty sucking; special bottles and teats; cleft nurse specialist.
- Hearing — glue ear (Eustachian tube dysfunction).
- Speech — nasal speech.
- Dental problems.
- Treatment (regional cleft team):
- Lip repair at about 3 months.
- Palate repair at about 6–12 months.
- Speech and language therapy, hearing checks, orthodontics, later surgery (bone graft).
Abdominal Wall and Gut Anomalies
- Gastroschisis:
- Bowel protrudes through a defect beside the umbilicus (usually right), without a covering sac.
- Linked to young mothers, smoking and drug use; rarely associated with other anomalies.
- Cover the bowel in cling film, keep warm, NG tube, fluids; surgery soon after birth (good outcome).
- Exomphalos (omphalocele):
- Abdominal contents protrude through the umbilicus, covered by a sac.
- Associated with chromosomal abnormalities (trisomy 13, 18), Beckwith–Wiedemann syndrome, and heart defects.
- Oesophageal atresia (usually with a tracheo-oesophageal fistula):
- Polyhydramnios in pregnancy; frothy saliva, choking and cyanosis with the first feed.
- An NG tube can't be passed (coils in the upper pouch on X-ray).
- Nil by mouth, suction the pouch (Replogle tube), surgery.
- VACTERL associations — Vertebral, Anorectal, Cardiac, Tracheo-oEsophageal, Renal, Limb anomalies.
- Duodenal atresia — bilious vomiting from the first day; "double bubble" on X-ray; linked to Down syndrome.
- Malrotation with volvulus, Hirschsprung's disease, meconium ileus (cystic fibrosis), anorectal malformations — see the Paediatric Gastroenterology and Surgery chapter.
- Bilious (green) vomiting in a newborn is a surgical emergency until proven otherwise.
The Blue or Collapsing Newborn
- Central cyanosis (blue tongue and lips) is always abnormal.
- Causes:
- Respiratory — RDS, pneumonia, meconium, pneumothorax, diaphragmatic hernia, PPHN.
- Cyanotic congenital heart disease — transposition of the great arteries (the commonest presenting in the first days), tetralogy of Fallot, tricuspid atresia, total anomalous pulmonary venous drainage, hypoplastic left heart syndrome.
- Sepsis; methaemoglobinaemia; polycythaemia.
- Hyperoxia (nitrogen washout) test — giving 100% oxygen improves oxygen levels in lung disease but not much in cyanotic heart disease.
- Duct-dependent heart lesions:
- Some babies need the ductus arteriosus to stay open — e.g. transposition, pulmonary atresia (cyanosis), and left heart obstruction — coarctation, hypoplastic left heart, critical aortic stenosis (collapse, shock, weak or absent femoral pulses).
- They often deteriorate at 2–3 days as the duct closes — collapse, cyanosis, shock, acidosis (may be mistaken for sepsis).
- Treatment — prostaglandin E (alprostadil or dinoprostone) infusion to reopen the duct (side effect — apnoea); urgent transfer to a cardiac centre.
- Pulse oximetry (pre- and post-ductal — right hand and a foot) helps detect critical heart disease.
- Collapsing newborn — differentials: sepsis, duct-dependent heart disease, inborn errors of metabolism (vomiting, acidosis, high ammonia), congenital adrenal hyperplasia (salt-losing crisis in boys at 1–2 weeks — low sodium, high potassium), non-accidental injury, hypoglycaemia.
- See the Paediatric Respiratory and Cardiac chapter.
⚠️ Safety Pearl: A baby who becomes grey, floppy and shocked at 2–3 days old may have a duct-dependent heart lesion. Feel the femoral pulses, give antibiotics for possible sepsis — and start a prostaglandin infusion if a heart cause is suspected.
Drug Reference Table
| Drug | Key points |
|---|---|
| Vitamin K (phytomenadione) 1 mg IM | At birth for all newborns (or oral regimen) — prevents vitamin K deficiency bleeding. |
| Vitamin D drops 8.5–10 micrograms daily | Breastfed babies from birth. |
| Benzylpenicillin + gentamicin IV | Early-onset neonatal sepsis; gentamicin levels. |
| Cefotaxime + amoxicillin IV | Neonatal meningitis (amoxicillin for Listeria). |
| Aciclovir IV | Neonatal herpes simplex. |
| Dextrose gel 40% 200 mg/kg buccal | Neonatal hypoglycaemia, with a feed. |
| Glucose 10% IV 2 mL/kg | Severe or symptomatic hypoglycaemia; then infusion. |
| Surfactant (poractant alfa) | Respiratory distress syndrome in preterm babies. |
| Caffeine citrate | Apnoea of prematurity. |
| Alprostadil / dinoprostone infusion | Keeps the ductus arteriosus open in duct-dependent heart disease; apnoea. |
| Ibuprofen / paracetamol | Closure of a patent ductus arteriosus in preterm babies. |
| IV immunoglobulin | Rhesus or ABO haemolytic disease with rising bilirubin. |
| Oral morphine | Neonatal opioid withdrawal. |
| Phenobarbital | Neonatal seizures (first line); polydrug withdrawal. |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| Jaundice at 10 hours old, mother O RhD-positive, baby A, DAT positive | ABO haemolytic disease |
| Jaundice at 4 weeks with pale stools and dark urine | Biliary atresia |
| Well, breastfed baby, jaundiced at 3 weeks, normal stools, unconjugated | Breast milk jaundice |
| Fast breathing for 12 hours after elective caesarean at 38 weeks | Transient tachypnoea of the newborn |
| Baby at 28 weeks with grunting and ground-glass chest X-ray | Respiratory distress syndrome |
| Scaphoid abdomen and bowel sounds in the left chest | Congenital diaphragmatic hernia |
| Frothy saliva, choking at first feed, NG tube coils on X-ray | Oesophageal atresia |
| Bilious vomiting on day 1 and double bubble in a baby with Down syndrome | Duodenal atresia |
| Preterm formula-fed baby with distension, bloody stools, gas in the bowel wall | Necrotising enterocolitis |
| Jitteriness and glucose 1.6 in a large baby of a diabetic mother | Neonatal hypoglycaemia |
| High-pitched cry, tremor, poor feeding on day 2; mother on methadone | Neonatal abstinence syndrome |
| Swelling over one parietal bone that doesn't cross sutures | Cephalhaematoma |
| Boggy scalp swelling and pallor after ventouse | Subgaleal haemorrhage |
| Arm limp and internally rotated after shoulder dystocia | Erb's palsy |
| Clunk on abduction of a flexed hip | Positive Ortolani — DDH |
| Bowel through a defect right of the umbilicus without a sac | Gastroschisis |
| Cyanosis on day 2 not improving with oxygen, no murmur | Transposition of the great arteries |
| Collapse at day 3 with absent femoral pulses | Coarctation / duct-dependent systemic circulation |
| Blue-grey patches on the lower back of a newborn | Congenital dermal melanocytosis — document |
Exam-style Scenarios
1. A term baby is born not breathing and floppy. After drying and stimulation, there is no breathing and the heart rate is 50.
Answer: Newborn resuscitation.
- Open the airway; 5 inflation breaths in air; reassess heart rate.
- If still under 60 after 30 seconds of good ventilation — chest compressions 3:1, increase oxygen.
- Call for help; consider adrenaline via umbilical venous catheter.
2. A 6-hour-old baby is visibly jaundiced. The mother's blood group is O RhD-positive.
Answer: Jaundice under 24 hours — pathological (possible ABO haemolysis).
- Serum bilirubin within 2 hours; plot on the threshold chart.
- FBC, film, baby's blood group and DAT; consider sepsis.
- Phototherapy as indicated; IVIG or exchange transfusion if rising rapidly.
3. A baby born after 20 hours of ruptured membranes to a GBS-positive mother is grunting and has a temperature of 38.2 °C at 8 hours old.
Answer: Early-onset neonatal sepsis (likely GBS).
- Blood culture, FBC, CRP; consider LP.
- IV benzylpenicillin and gentamicin within 1 hour.
- Respiratory support; review CRP at 18–24 hours and cultures at 36 hours.
4. A 30-weeks preterm baby on day 8, fed with formula, develops abdominal distension, bilious aspirates and bloody stools.
Answer: Necrotising enterocolitis.
- Nil by mouth, NG tube on free drainage; IV antibiotics and fluids; parenteral nutrition.
- Abdominal X-ray (pneumatosis, portal gas, free air); surgical review.
5. A 5-week-old baby is still jaundiced. Stools are pale and the urine is dark. Conjugated bilirubin is 90 µmol/L.
Answer: Conjugated hyperbilirubinaemia — suspected biliary atresia.
- Urgent referral to a paediatric liver unit (ultrasound, specialist tests).
- Kasai portoenterostomy as early as possible (best before 6–8 weeks).
- Vitamin K (risk of bleeding from malabsorption).
Key Points
- Newborn life support: dry, warm, assess; 5 inflation breaths; compressions 3:1 if heart rate under 60 after effective ventilation.
- NIPE within 72 hours and at 6–8 weeks: eyes (red reflex), heart, hips, testes.
- Blood spot at day 5: sickle cell, CF, hypothyroidism, PKU, MCADD and other metabolic conditions.
- Vitamin K at birth for all; vitamin D drops for breastfed babies.
- Safe sleep: back to sleep, feet to foot, smoke-free, room-share, no sofa or unsafe co-sleeping.
- Jaundice in the first 24 hours is pathological; prolonged jaundice (over 14 days) — check conjugated bilirubin.
- Pale stools and dark urine with jaundice = biliary atresia until proven otherwise — Kasai before 6–8 weeks.
- TTN after caesarean settles; RDS in preterm babies needs CPAP and surfactant.
- Early-onset sepsis (GBS, E. coli): benzylpenicillin and gentamicin within 1 hour.
- Hypoglycaemia risk: diabetic mothers, SGA, preterm — feed, dextrose gel, IV glucose.
- NEC: preterm, formula-fed, bilious aspirates, bloody stools, pneumatosis — nil by mouth and antibiotics.
- Moderate to severe HIE: cooling to 33–34 °C for 72 hours, started within 6 hours.
- DDH: ultrasound by 6 weeks if breech or family history; Pavlik harness.
- Bilious vomiting in a newborn is a surgical emergency.
- Collapse at 2–3 days: think duct-dependent heart lesion — prostaglandin infusion.
Guidelines and Further Reading
- Resuscitation Council UK: Newborn life support
- NHS Newborn and Infant Physical Examination (NIPE) Screening Programme
- NHS Newborn Blood Spot and Newborn Hearing Screening Programmes
- NICE CG98: Jaundice in newborn babies under 28 days
- NICE NG195: Neonatal infection — antibiotics for prevention and treatment
- BAPM: Identification and management of neonatal hypoglycaemia in the full-term infant
- NICE IPG347 / BAPM: Therapeutic hypothermia for neonatal encephalopathy
- The Lullaby Trust: Safer sleep advice
- BNF for Children — for current doses
3. Paediatric Infections
🌡️ Infections in children — fever is one of the commonest reasons children are seen. Most have self-limiting viral illnesses, but a small number have serious bacterial infection (sepsis, meningitis, pneumonia, UTI), which can progress within hours. Use the NICE traffic light system, take parents' concerns seriously, look for a non-blanching rash, and always give clear safety-netting advice.
Your four questions for every child: How old are they (under 3 months is high risk)? Are there red (or amber) features on the traffic light system? Is there a focus of infection — and could this be sepsis or meningitis? Is there a rash — and does it blanch?
Fever in Children Under 5
- Fever — temperature 38 °C or above. Use an electronic thermometer in the armpit (under 4 weeks) or an infrared tympanic or armpit thermometer (4 weeks to 5 years). Parents' report of fever counts.
- NICE traffic light system (NG143) — assess colour, activity, breathing, circulation and hydration:
| Category | Features (examples) |
|---|---|
| Red — high risk | Pale, mottled, ashen or blue; no response to social cues; appears ill to a healthcare professional; doesn't wake or stay awake; weak, high-pitched or continuous cry; grunting; breathing rate over 60; moderate or severe chest indrawing; reduced skin turgor; age under 3 months with temperature 38 °C or more; non-blanching rash; bulging fontanelle; neck stiffness; status epilepticus; focal neurological signs or seizures |
| Amber — intermediate risk | Pallor (reported by parents); not responding normally to social cues; no smile; reduced activity; nasal flaring; breathing rate over 50 (6–12 months) or over 40 (over 12 months); oxygen saturation 95% or less; crackles; capillary refill 3 seconds or more; dry mucous membranes; poor feeding (infants); reduced urine output; age 3–6 months with temperature 39 °C or more; fever for 5 days or more; rigors; swelling of a limb or joint; not weight-bearing |
| Green — low risk | Normal colour; responds normally, content or smiling; stays awake or wakes quickly; strong normal cry; normal skin and eyes; moist mucous membranes |
- Also measure — heart rate, breathing rate, capillary refill, temperature; consider BP; oxygen saturation.
- Management:
- Red — urgent hospital assessment (same-day, often emergency transfer); tests and treatment as for possible sepsis.
- Amber — face-to-face assessment by a paediatric specialist, or a clear safety net and follow-up; tests may include urine, FBC, CRP, blood culture, chest X-ray (if signs).
- Green — manage at home with safety-netting; test urine if no clear focus.
- Look for a focus — ears, throat, chest, urine, skin, joints, abdomen; test urine in children with unexplained fever.
- Antipyretics (paracetamol or ibuprofen):
- Use for distress, not just to lower the number.
- Don't use to prevent febrile seizures (they don't).
- Don't give both at the same time; consider switching if distress continues before the next dose is due.
- Avoid tepid sponging; keep the child comfortable, encourage fluids.
- Response to antipyretics doesn't tell you whether an infection is serious.
- Safety-netting — return if: a fit, a non-blanching rash, the child becomes harder to wake or more unwell, signs of dehydration, fever for 5 days or more, or parents are worried. Give written information.
Fever in Babies Under 3 Months
- High risk of serious bacterial infection (UTI, bacteraemia, meningitis) — signs are often subtle.
- Any baby under 3 months with a temperature of 38 °C or more needs urgent assessment by a paediatrician.
- Under 1 month — full septic screen and IV antibiotics:
- Blood culture, FBC, CRP, urine, lumbar puncture (unless contraindicated), chest X-ray if breathing signs, lactate.
- IV cefotaxime (or ceftriaxone if over 28 days old) plus amoxicillin (for Listeria).
- 1–3 months — blood and urine tests for all; LP and IV antibiotics if unwell, or white cell count under 5 or over 15 × 10⁹/L (or raised CRP).
- Consider HSV (aciclovir) in neonates with seizures, vesicles, or raised liver enzymes.
- Low temperature (hypothermia) in a young baby can also mean sepsis.
⚠️ Safety Pearl: A febrile baby under 3 months may look well and still have meningitis or bacteraemia. Never dismiss fever in a young infant — they all need urgent paediatric assessment.
Sepsis in Children
- Sepsis — life-threatening organ dysfunction from infection. Children compensate well and BP falls late — tachycardia, fast breathing, prolonged capillary refill and altered behaviour are earlier signs.
- Recognition — use a paediatric early warning score (PEWS) and sepsis screening tools (age-specific heart and breathing rates).
- Red flags — mottled or ashen skin, non-blanching rash, cold extremities, lethargy or reduced consciousness, breathing rate very high, heart rate very high or low, oxygen saturation under 90% in air, no urine for 18 hours (or under 1 mL/kg/hour if catheterised), lactate over 2 mmol/L.
- Management — within 1 hour:
- ABC; high-flow oxygen; senior help.
- IV or intraosseous access — IO if IV fails after 2 attempts (or 90 seconds).
- Bloods — blood culture, FBC, CRP, U&E, glucose, lactate (venous gas), clotting.
- IV antibiotics — e.g. ceftriaxone 80 mg/kg (cefotaxime plus amoxicillin under 3 months), per local policy.
- Fluid bolus — 10 mL/kg of balanced crystalloid (or 0.9% saline) over 5–10 minutes, reassessing after each; escalate to PICU and inotropes after 40–60 mL/kg.
- Check glucose and treat hypoglycaemia (2 mL/kg of 10% glucose).
- Monitor urine output.
- Look for the source — chest, urine, CNS, abdomen, skin and soft tissue, bones and joints, lines.
- Toxic shock syndrome (staphylococcal or streptococcal) — add clindamycin; consider IVIG.
Bacterial Meningitis
- Organisms:
- Under 3 months — group B streptococcus, E. coli, Listeria, pneumococcus.
- Over 3 months — Neisseria meningitidis (meningococcus), Streptococcus pneumoniae; Hib (now rare — vaccine).
- TB meningitis (gradual onset, high-risk contacts).
- Features:
- Babies — non-specific: fever or hypothermia, poor feeding, vomiting, irritability, high-pitched cry, lethargy, bulging fontanelle, seizures, floppiness.
- Older children — fever, headache, neck stiffness, photophobia, vomiting, confusion, reduced consciousness, seizures.
- Kernig's and Brudzinski's signs (unreliable in young children).
- Non-blanching rash (meningococcal).
- Before arriving at hospital — if meningococcal disease is suspected (non-blanching rash), give IM or IV benzylpenicillin straight away (unless there is anaphylaxis to penicillin) without delaying transfer.
- Lumbar puncture — when safe. Don't do an LP if:
- Signs of raised intracranial pressure — reduced or fluctuating consciousness (GCS under 9 or falling), focal neurology, abnormal posturing, unequal pupils, papilloedema, bradycardia with hypertension.
- Shock; extensive or spreading purpura.
- After a convulsion until stabilised.
- Coagulopathy or low platelets; local infection at the site; respiratory compromise.
- CSF findings:
| Type | CSF |
|---|---|
| Bacterial | Cloudy; high neutrophils; high protein; low glucose (under half of blood glucose); organisms on Gram stain |
| Viral | Clear; high lymphocytes; normal or slightly raised protein; normal glucose |
| TB | Lymphocytes; very high protein; very low glucose; fibrin web |
- Treatment (NICE NG240):
- Over 3 months — IV ceftriaxone (80 mg/kg once daily, or as per local policy).
- Under 3 months — IV cefotaxime plus amoxicillin (Listeria).
- Dexamethasone (0.15 mg/kg four times daily for 4 days) — in children over 3 months with suspected or confirmed bacterial meningitis (e.g. frankly purulent CSF, high white cells, or bacteria on Gram stain), ideally with or before the first antibiotic dose (within 12 hours). Reduces hearing loss and neurological damage. Not for meningococcal septicaemia without meningitis.
- Fluids — treat shock; then normal maintenance (don't restrict unless raised ICP or SIADH).
- Aciclovir if encephalitis is possible.
- Public health — notify UKHSA; prophylactic antibiotics (e.g. single-dose ciprofloxacin) and sometimes vaccine for close contacts of meningococcal disease.
- Complications — sensorineural hearing loss (formal hearing test within 4 weeks), seizures, learning and behaviour problems, hydrocephalus, cerebral palsy, subdural effusion, cerebral abscess, SIADH, death.
Meningococcal Disease
- Neisseria meningitidis — causes meningitis, septicaemia, or both. Groups B (most UK cases — MenB vaccine), W, Y and C (MenACWY).
- Peak ages — under 1 year, and 15–19 years (students — MenACWY at 14 and before university).
- Meningococcal septicaemia:
- Can progress from flu-like illness to shock within hours.
- Early signs — fever, cold hands and feet, leg pain, abnormal skin colour (pallor, mottling), rapid breathing.
- Rash — may start as a blanching maculopapular rash, then becomes non-blanching petechiae and purpura (glass test — the rash doesn't fade under a glass).
- Shock — tachycardia, prolonged capillary refill, low BP (late), reduced urine output.
- Purpura fulminans — widespread purpura with DIC; limb and digit necrosis.
- A non-blanching rash with fever — treat as meningococcal disease until proven otherwise:
- Prehospital — benzylpenicillin IM or IV; emergency transfer.
- Hospital — IV ceftriaxone; fluid boluses; early PICU involvement (inotropes, ventilation); correct clotting, glucose, electrolytes.
- Other causes of non-blanching rash — viral infection (enterovirus), forceful coughing or vomiting (petechiae above the nipple line only — superior vena cava distribution), ITP, leukaemia, HSP, NAI.
- Low risk (can be observed) — a well child with a few petechiae, normal blood tests and no spreading after 4–6 hours of observation.
⚠️ Safety Pearl: In a feverish child, cold hands and feet, leg pain and unusual skin colour can come before the rash. A non-blanching rash with fever is meningococcal disease until proven otherwise — give antibiotics immediately.
Encephalitis
- What it is: Inflammation of the brain tissue, usually viral (herpes simplex, enteroviruses, VZV, influenza, measles) or autoimmune (anti-NMDA receptor encephalitis).
- Features:
- Fever, headache.
- Altered behaviour, confusion, drowsiness.
- Seizures (especially focal).
- Focal neurological signs.
- Tests — LP (CSF lymphocytes, HSV PCR), MRI (temporal lobe changes in HSV), EEG, autoimmune antibodies.
- Treatment — IV aciclovir started immediately on suspicion (don't wait for results); supportive care; immunotherapy for autoimmune causes.
- Neonatal HSV — skin, eye and mouth, CNS or disseminated disease; IV aciclovir.
Gastroenteritis and Dehydration
- Causes — mostly viral: norovirus, rotavirus (much less common since the vaccine), adenovirus. Bacterial — Campylobacter, Salmonella, Shigella, E. coli O157.
- Features — sudden diarrhoea (usually 5–7 days, up to 2 weeks) with or without vomiting (1–2 days), fever, abdominal pain.
- Think of other causes if:
- Vomiting without diarrhoea — UTI, meningitis, DKA, raised ICP, intussusception, pyloric stenosis, appendicitis.
- Bilious (green) vomiting — surgical (malrotation, obstruction).
- Blood in stools — bacterial infection, intussusception ("redcurrant jelly"), HUS, IBD.
- Severe abdominal pain, distension, or a mass.
- Diarrhoea over 7 days.
- Assessing dehydration (NICE CG84):
- Higher risk — under 1 year (especially under 6 months), low birth weight, 6 or more stools or 3 or more vomits in 24 hours, not tolerating fluids, signs of malnutrition.
- Clinical dehydration — appears unwell, altered responsiveness (irritable, lethargic), sunken eyes, dry mucous membranes, tachycardia, tachypnoea, reduced skin turgor, reduced urine output.
- Clinical shock — decreased consciousness, pale or mottled skin, cold extremities, very fast heart rate, weak pulses, prolonged capillary refill, low BP.
- Management:
- No dehydration — continue breastfeeding and usual fluids; encourage drinking; oral rehydration solution (ORS) if at risk; avoid fruit juices and fizzy drinks.
- Clinical dehydration — ORS 50 mL/kg over 4 hours (small, frequent sips) plus maintenance fluid; NG tube if not drinking or vomiting; ondansetron (single oral dose) in hospital can reduce vomiting.
- Shock — IV fluid bolus (0.9% saline, e.g. 10–20 mL/kg), then IV rehydration; check U&E and glucose.
- Hypernatraemic dehydration (sodium over 150 — "doughy" skin, jittery, irritable, drowsy, seizures) — correct slowly over 48 hours (rapid correction causes cerebral oedema).
- Reintroduce food as soon as rehydrated; full-strength milk.
- No antidiarrhoeals (loperamide) in children.
- Antibiotics only in specific cases — suspected sepsis, Salmonella in babies under 6 months or immunocompromised, Shigella, C. difficile, extra-intestinal spread.
- Stool culture — blood or mucus in stools, recent travel abroad, immunocompromise, suspected septicaemia, diarrhoea over 7 days.
- Haemolytic uraemic syndrome (HUS) — E. coli O157 (bloody diarrhoea, then 5–10 days later pallor, reduced urine, bruising): AKI, low platelets, haemolytic anaemia. Avoid antibiotics and antimotility drugs. See the Paediatric Renal, Urology and Endocrine chapter.
- Infection control — handwashing; stay off school or nursery for 48 hours after the last episode of diarrhoea or vomiting.
Rashes in Childhood
| Illness | Features — and school exclusion (UKHSA) |
|---|---|
| Measles | Cough, coryza, conjunctivitis, Koplik spots; rash from behind the ears downwards — exclude for 4 days from rash onset |
| Chickenpox | Itchy crops of papules → vesicles → crusts — exclude until all lesions have crusted (about 5 days) |
| Rubella | Mild; pink rash starting on the face; tender nodes behind the ears and neck — exclude for 5 days from rash onset |
| Scarlet fever | Sore throat, sandpaper rash, strawberry tongue, flushed cheeks — exclude until 24 hours after starting antibiotics |
| Slapped cheek (parvovirus B19) | Bright red cheeks, then lacy rash on limbs — no exclusion (infectious before the rash) |
| Roseola infantum (HHV-6) | High fever for 3–5 days in an infant, then a pink rash as the fever settles — no exclusion |
| Hand, foot and mouth (coxsackie A16) | Mouth ulcers and blisters on hands and feet; mild — no exclusion |
| Impetigo | Golden crusts — exclude until lesions crusted and healed, or 48 hours after starting antibiotics |
| Meningococcal | Non-blanching petechiae or purpura with fever — emergency |
| Kawasaki disease | Fever for 5 days or more, rash, red eyes and lips, swollen hands and feet |
| IgA vasculitis (HSP) | Palpable purpura on buttocks and legs with normal platelets, joint and abdominal pain |
| Molluscum contagiosum | Pearly umbilicated papules — no exclusion |
| Urticaria | Itchy wheals that come and go within 24 hours — often viral or allergic |
| Erythema multiforme | Target lesions on hands and feet — often after HSV or Mycoplasma |
| Stevens–Johnson syndrome | Mucosal ulceration, blistering, skin peeling — drugs (anticonvulsants, sulfonamides) — emergency |
- Always check whether a rash blanches, and whether the child is unwell.
- Pregnant contacts — measles, chickenpox, rubella and parvovirus can harm a pregnancy; advise exposed pregnant women to contact their midwife or GP.
Measles
- Very infectious (airborne); rising in the UK with falling MMR uptake. Notifiable.
- Incubation — about 10–12 days.
- Prodrome (2–4 days) — high fever, the "3 Cs": cough, coryza, conjunctivitis; miserable child.
- Koplik spots — tiny white spots on a red background on the inside of the cheeks (before the rash).
- Rash — red maculopapular, starting behind the ears and on the face, spreading down the body; becomes blotchy and confluent; fades with brown staining after a week.
- Infectious from 4 days before to 4 days after rash onset.
- Complications (more in under-5s, malnourished, immunocompromised):
- Otitis media (the commonest).
- Pneumonia (the commonest cause of death).
- Diarrhoea; febrile seizures.
- Encephalitis (about 1 in 1,000).
- Subacute sclerosing panencephalitis (SSPE) — years later; fatal.
- Immune "amnesia" — increased infections for years.
- Diagnosis — oral fluid or throat swab PCR, IgM.
- Management:
- Supportive; isolate (airborne precautions in hospital); notify UKHSA.
- Vitamin A for some children (e.g. severe disease, malnourished).
- Treat bacterial complications.
- Contacts — MMR within 72 hours for unvaccinated contacts (from 6 months); human normal immunoglobulin within 6 days for infants under 6 months (sometimes 6–9 months), immunocompromised contacts, and non-immune pregnant women.
Chickenpox and Shingles
- Varicella zoster virus — incubation 10–21 days; spread by droplets and contact with blisters.
- Features — mild fever and malaise, then itchy crops of red spots → vesicles → crusts, starting on the trunk and face; lesions at different stages.
- Infectious from 1–2 days before the rash until all lesions have crusted.
- Management:
- Supportive — paracetamol, fluids, calamine or emollients, chlorphenamine (over 1 year) for itch; cut nails.
- Avoid NSAIDs (ibuprofen) — linked to severe skin and soft tissue infections (including invasive group A strep).
- Aciclovir — for immunocompromised children (IV), neonates, and consider for adolescents within 24 hours of the rash, or with severe disease.
- Complications:
- Bacterial skin infection — Staph or group A strep (cellulitis, necrotising fasciitis, toxic shock) — watch for a second fever, spreading redness, or a child getting worse after initial improvement.
- Pneumonia (more in adults and immunocompromised).
- Cerebellar ataxia (usually benign, resolves); encephalitis.
- Disseminated disease in immunosuppression.
- Exposure — immunocompromised children, neonates and non-immune pregnant women need urgent advice (antiviral prophylaxis or VZIG).
- Prevention — varicella vaccine now in the routine schedule (MMRV, 2026).
- Shingles in children — less common; dermatomal; consider immunosuppression; aciclovir if severe or immunocompromised.
Other Viral Rashes
- Slapped cheek syndrome (erythema infectiosum — parvovirus B19):
- Mild fever, then bright red cheeks, then a lacy rash on the arms and legs.
- Infectious before the rash — so no exclusion.
- Aplastic crisis in children with sickle cell disease or hereditary spherocytosis.
- Pregnancy — fetal anaemia and hydrops (refer exposed pregnant women).
- Roseola infantum (HHV-6) — 6 months to 2 years; high fever for 3–5 days (febrile seizures common), then a pink rash on the trunk as the fever goes.
- Hand, foot and mouth disease (coxsackie A16, enterovirus 71) — under 10s; mouth ulcers, vesicles on palms and soles (and buttocks); mild; nail shedding weeks later.
- Rubella — mild; pink macular rash from the face down; occipital and post-auricular lymph nodes; joint pains in teenagers. Risk to pregnancies (congenital rubella).
- Glandular fever (EBV) — sore throat, nodes, splenomegaly; rash with amoxicillin. See the Nose and Throat chapter.
- Pityriasis rosea — older children: a single "herald patch" then a "Christmas tree" pattern on the back; self-limiting.
Skin Infections and Infestations
- Impetigo — Staph aureus or Strep pyogenes; very contagious:
- Non-bullous — red sores that burst, leaving golden-brown ("honey") crusts, often around the mouth and nose.
- Bullous — fluid-filled blisters (Staph toxins), often in babies.
- Treatment (NICE NG153) — localised non-bullous: hydrogen peroxide 1% cream (or topical fusidic acid if unsuitable) for 5 days; widespread or bullous or systemically unwell: oral flucloxacillin for 5 days (clarithromycin if allergic).
- Exclude from school until crusted or 48 hours after starting antibiotics.
- Complication — post-streptococcal glomerulonephritis.
- Staphylococcal scalded skin syndrome — young children; fever, widespread tender redness, then blistering and peeling (positive Nikolsky sign — skin slides off with gentle pressure); mucous membranes spared. IV flucloxacillin, fluids, analgesia.
- Cellulitis — oral or IV flucloxacillin (or co-amoxiclav for facial or bite-related); periorbital cellulitis — see the Red Eye chapter.
- Eczema herpeticum — herpes simplex in eczematous skin: rapidly spreading painful clusters of punched-out erosions, fever, unwell. Emergency — IV or oral aciclovir; eye check if near the eyes.
- Infected eczema — weeping, crusting; flucloxacillin.
- Molluscum contagiosum — pearly, dome-shaped papules with a central dimple; harmless; resolves in 12–18 months; no treatment usually.
- Tinea capitis (scalp ringworm) — scaly patches with hair loss; kerion (boggy, inflamed swelling); needs oral antifungals (terbinafine or griseofulvin) — topical alone won't work.
- Head lice — wet combing with a fine comb, or dimeticone lotion; treat only if live lice are found; no exclusion.
- Scabies — itchy papules and burrows in finger webs, wrists, armpits; in babies, palms, soles and face. Permethrin 5% to the whole body (including scalp in young children), repeated after 7 days; treat the household. See the Sexual Health chapter.
- Warts and verrucae — self-limiting; salicylic acid or cryotherapy if bothersome.
Kawasaki Disease
- What it is: A medium-vessel vasculitis of young children (usually under 5); more common in children of East Asian origin. The leading cause of acquired heart disease in children in the UK.
- Diagnosis — fever for 5 days or more plus 4 of 5 features (remember "CRASH"):
- C — Conjunctivitis — bilateral, non-purulent (no discharge).
- R — Rash — polymorphous (any type except vesicles).
- A — Adenopathy — cervical lymph node over 1.5 cm, usually one side.
- S — Strawberry tongue and mucosal changes — red, cracked lips, red throat.
- H — Hands and feet — red, swollen palms and soles; peeling of fingers and toes in weeks 2–3.
- Very irritable child; BCG scar may become red.
- Incomplete Kawasaki — fewer features (more common in infants, who are at higher risk of aneurysms) — consider in any infant with prolonged unexplained fever.
- Tests — high CRP and ESR, high white cells, anaemia, raised platelets (after the first week), low albumin, raised ALT, sterile pyuria; echocardiogram at diagnosis and at 6 weeks.
- Complication — coronary artery aneurysms (in about 25% untreated, about 5% treated) — risk of MI, thrombosis and sudden death, later in life too.
- Treatment (start as soon as possible, ideally within 10 days of fever onset):
- IV immunoglobulin 2 g/kg as a single infusion.
- Aspirin — high dose until the fever settles, then low dose (antiplatelet) for 6 weeks (or longer if aneurysms) — one of the few uses of aspirin in children (Reye's syndrome risk otherwise).
- Corticosteroids — for high-risk children (infants, aneurysms at diagnosis, very high inflammation) or IVIG resistance; infliximab in refractory disease.
- Avoid live vaccines for 11 months after IVIG (reduced response).
💡 Clinical Pearl: Any child with a fever for 5 days or more and red eyes, red lips or a rash should be assessed for Kawasaki disease — early IVIG prevents coronary aneurysms.
PIMS-TS and Toxic Shock
- PIMS-TS (paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2; also called MIS-C):
- 2–6 weeks after COVID-19 infection (now less common).
- Persistent fever, abdominal pain, vomiting and diarrhoea, rash, red eyes, shock, myocarditis, coronary artery dilatation.
- Very high inflammatory markers, raised troponin and BNP, lymphopenia.
- Treatment — supportive (PICU), IV methylprednisolone and/or IVIG, aspirin; biologics if refractory.
- Toxic shock syndrome — Staph aureus or Strep pyogenes toxins:
- High fever, diffuse red rash (like sunburn), hypotension, multi-organ involvement (diarrhoea, vomiting, confusion), later peeling of palms and soles.
- Sources — infected wounds, burns, chickenpox lesions, tampons (adolescents), nasal packing.
- Treatment — fluids and PICU; remove the source; broad-spectrum antibiotics plus clindamycin (stops toxin production); IVIG.
Tuberculosis in Children
- Usually caught from an adult in the household — always look for the source (contact tracing). Young children (under 5) are at higher risk of severe disease.
- Features:
- Pulmonary — prolonged cough (over 2–3 weeks), fever, weight loss or faltering growth, night sweats; enlarged hilar nodes on chest X-ray.
- Lymph node TB — painless, matted neck nodes.
- Miliary TB and TB meningitis — mainly in young children: gradual onset of fever, headache, irritability, vomiting, drowsiness, cranial nerve palsies.
- Bone and joint (Pott's disease of the spine), abdominal.
- Tests — chest X-ray; samples (sputum, gastric aspirates in young children, induced sputum) for smear, culture and PCR; Mantoux (tuberculin skin test) or interferon-gamma release assay (IGRA) for infection; HIV test.
- Treatment — rifampicin, isoniazid, pyrazinamide and ethambutol for 2 months, then rifampicin and isoniazid for 4 months (12 months total for TB meningitis, plus steroids). Dispersible child-friendly tablets; directly observed therapy where needed; notify.
- Latent TB (infection without disease) — e.g. rifampicin and isoniazid for 3 months, or isoniazid for 6 months.
- Prevention — BCG for at-risk babies (protects against severe forms like TB meningitis).
Threadworms and Gut Parasites
- Threadworm (Enterobius vermicularis) — the commonest worm in UK children:
- Itching around the anus, especially at night; disturbed sleep; vulval itch in girls.
- Tiny white thread-like worms may be seen in stools or around the anus at night; "sellotape test" if unsure.
- Treatment — mebendazole single dose (over 6 months; off-label under 2 years) for the child and all household members, repeated after 2 weeks if needed; hygiene measures for 2 weeks (handwashing, short nails, morning baths, wash bedding).
- Pregnant women and babies under 6 months — hygiene measures only (6 weeks).
- Giardia — prolonged diarrhoea, bloating, failure to thrive; stool tests; metronidazole.
- Other (after travel) — roundworm, hookworm (iron deficiency), tapeworm, schistosomiasis.
The Returning Traveller
- Fever after travel — always ask about travel in the past year.
- Malaria — the most important diagnosis in a febrile child returning from a malaria area (especially sub-Saharan Africa, often visiting friends and relatives):
- Fever, headache, vomiting, diarrhoea, cough, lethargy — non-specific.
- Urgent malaria test (thick and thin blood films or rapid antigen test, repeated 3 times over 48–72 hours if negative).
- Plasmodium falciparum can become severe quickly — cerebral malaria, severe anaemia, acidosis, hypoglycaemia.
- Treatment — specialist advice; IV artesunate for severe malaria; oral artemisinin combination therapy for uncomplicated falciparum.
- Others — dengue (fever, headache, rash, low platelets), typhoid (fever, constipation or diarrhoea, rose spots), viral hepatitis, TB, measles, travellers' diarrhoea; viral haemorrhagic fevers (rare — isolate and seek expert advice).
- Prevention advice — bite avoidance, antimalarials, vaccines before travel.
Prescribing Antimicrobials in Children
- Dose by weight (or age band for common drugs); check the BNF for Children; liquid formulations for young children.
- Avoid in children:
- Tetracyclines under 12 years (tooth staining).
- Aspirin under 16 (Reye's syndrome — liver failure and encephalopathy), except in Kawasaki disease.
- Fluoroquinolones — generally avoided (joint concerns) unless specifically needed (e.g. meningococcal prophylaxis, Pseudomonas in CF).
- Chloramphenicol (systemic) in neonates — grey baby syndrome.
- Codeine under 12 years (unpredictable metabolism — breathing depression).
- Antibiotic stewardship — most respiratory infections, sore throats and ear infections are viral; use delayed (back-up) prescriptions where appropriate; give clear safety-netting.
- Gentamicin — check levels; ototoxicity (mitochondrial variant testing in neonates).
- Penicillin allergy labels — many children labelled allergic aren't; a rash during a viral illness on amoxicillin is common and often not true allergy (de-labelling pathways exist).
Drug Reference Table
| Drug | Key points |
|---|---|
| Paracetamol / ibuprofen | For distress with fever; don't prevent febrile seizures; avoid ibuprofen in chickenpox and dehydration. |
| Benzylpenicillin IM/IV | Pre-hospital for suspected meningococcal disease. |
| Ceftriaxone IV 80 mg/kg | Sepsis and meningitis over 3 months (per local policy). |
| Cefotaxime + amoxicillin IV | Sepsis and meningitis under 3 months (Listeria cover). |
| Dexamethasone 0.15 mg/kg four times daily, 4 days | Bacterial meningitis over 3 months; reduces hearing loss. |
| Aciclovir IV | Encephalitis, neonatal HSV, eczema herpeticum, chickenpox in immunocompromised. |
| Clindamycin | Added in toxic shock and invasive group A strep. |
| Ciprofloxacin single dose | Prophylaxis for close contacts of meningococcal disease (UKHSA). |
| Oral rehydration solution | 50 mL/kg over 4 hours plus maintenance for clinical dehydration. |
| Ondansetron oral single dose | Vomiting with dehydration in hospital (helps oral rehydration). |
| IV immunoglobulin 2 g/kg | Kawasaki disease; toxic shock; PIMS-TS. |
| Aspirin | Kawasaki disease only (high then low dose). |
| Hydrogen peroxide 1% cream | Localised non-bullous impetigo (fusidic acid if unsuitable). |
| Flucloxacillin | Widespread impetigo, cellulitis, SSSS. |
| Mebendazole | Threadworm — treat the household. |
| Permethrin 5% cream | Scabies — repeat after 7 days; treat contacts. |
| Rifampicin, isoniazid, pyrazinamide, ethambutol | TB — 6 months (12 for meningitis). |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| 6-week-old with temperature 38.3 °C, looks well | Red feature — urgent paediatric assessment and septic screen |
| Fever, cold hands and feet, leg pain, purpuric rash | Meningococcal septicaemia |
| Irritable baby with a bulging fontanelle and high-pitched cry | Meningitis |
| Fever, confusion and focal seizures with temporal lobe changes on MRI | HSV encephalitis |
| Bloody diarrhoea, then pallor, low platelets and AKI | HUS (E. coli O157) |
| Doughy skin, jitteriness and sodium 158 after diarrhoea | Hypernatraemic dehydration — correct slowly |
| Cough, coryza, conjunctivitis, white spots in the mouth, rash from behind the ears | Measles |
| Chickenpox with a new fever on day 4 and a spreading red painful area | Invasive group A strep / necrotising fasciitis |
| Bright red cheeks then lacy rash on the arms | Slapped cheek (parvovirus B19) |
| High fever for 4 days in a 10-month-old, then a rash as fever settles | Roseola infantum |
| Fever for 6 days, red eyes, cracked lips, swollen hands, neck node | Kawasaki disease |
| Fever, abdominal pain, shock and myocarditis weeks after COVID-19 | PIMS-TS |
| Golden crusts around the mouth | Impetigo |
| Widespread tender redness and peeling skin in a toddler, positive Nikolsky | Staphylococcal scalded skin syndrome |
| Eczema with rapidly spreading punched-out erosions and fever | Eczema herpeticum — aciclovir |
| Scaly patch of hair loss with a boggy swelling | Tinea capitis with kerion — oral antifungal |
| Night-time perianal itch | Threadworm |
| Fever after visiting family in Nigeria | Malaria until proven otherwise |
Exam-style Scenarios
1. A 2-year-old has a fever of 39.5 °C and a few petechiae on the chest. She is drowsy, her hands are cold and capillary refill is 4 seconds.
Answer: Suspected meningococcal septicaemia with shock.
- High-flow oxygen; IV or IO access; blood culture, FBC, CRP, gas, glucose, clotting.
- IV ceftriaxone immediately; 10 mL/kg fluid boluses with reassessment.
- Early PICU involvement; no LP while shocked; notify UKHSA; prophylaxis for contacts.
2. A 4-week-old has a temperature of 38.4 °C and is feeding slightly less. Examination is otherwise normal.
Answer: Fever in a baby under 1 month — high risk.
- Full septic screen: blood culture, FBC, CRP, urine, LP, lactate.
- IV cefotaxime plus amoxicillin; consider aciclovir.
3. A 14-month-old has had diarrhoea and vomiting for 2 days. He is irritable, with sunken eyes, dry mouth and reduced wet nappies. Capillary refill is 2 seconds.
Answer: Gastroenteritis with clinical dehydration (not shock).
- ORS 50 mL/kg over 4 hours plus maintenance (small, frequent amounts; NG if not drinking).
- Consider a single dose of oral ondansetron.
- Reassess; IV fluids if worsening; check for red flags (blood, bile, surgical abdomen).
4. A 3-year-old has had a fever for 6 days, with bilateral red eyes (no discharge), a widespread rash, red cracked lips and swollen hands.
Answer: Kawasaki disease.
- FBC, CRP, ESR, LFTs, albumin, urine; echocardiogram.
- IVIG 2 g/kg and aspirin; steroids if high risk.
- Repeat echo at 6 weeks; delay live vaccines for 11 months.
5. A 5-year-old with chickenpox was improving but now has a new high fever and a red, swollen, very painful thigh.
Answer: Secondary bacterial infection — possible invasive group A strep or necrotising fasciitis.
- Urgent hospital assessment; sepsis bundle.
- IV broad-spectrum antibiotics with clindamycin; surgical review.
- Avoid ibuprofen.
Key Points
- Use the NICE traffic light system; red features need urgent hospital assessment.
- Any baby under 3 months with fever 38 °C or more is high risk; under 1 month — full septic screen and IV cefotaxime plus amoxicillin.
- Antipyretics are for distress, and don't prevent febrile seizures.
- Paediatric sepsis: antibiotics within 1 hour, 10 mL/kg fluid boluses, check glucose, early PICU.
- Non-blanching rash with fever = meningococcal until proven otherwise — benzylpenicillin before hospital, ceftriaxone in hospital.
- Don't do an LP with raised ICP signs, shock, extensive purpura, coagulopathy or after a seizure.
- Dexamethasone for bacterial meningitis over 3 months; hearing test within 4 weeks after.
- Suspected encephalitis: IV aciclovir immediately.
- Gastroenteritis: ORS 50 mL/kg over 4 hours plus maintenance; correct hypernatraemia slowly; off school for 48 hours.
- Measles: 3 Cs, Koplik spots, rash from the head down — notify; MMR within 72 hours for contacts.
- Chickenpox: avoid NSAIDs; watch for invasive group A strep; exclude until crusted.
- Kawasaki: fever 5 days plus 4 of CRASH — IVIG and aspirin; echo for coronary aneurysms.
- Impetigo: hydrogen peroxide cream if localised; flucloxacillin if widespread.
- Eczema herpeticum is an emergency — aciclovir.
- Fever after travel to a malaria area: urgent malaria films.
- No aspirin under 16 (except Kawasaki); no codeine under 12; no tetracyclines under 12.
Guidelines and Further Reading
- NICE NG143: Fever in under 5s — assessment and initial management
- NICE NG51: Sepsis — recognition, diagnosis and early management
- NICE NG240: Meningitis (bacterial) and meningococcal disease
- NICE CG84: Diarrhoea and vomiting caused by gastroenteritis in under 5s
- NICE NG153: Impetigo — antimicrobial prescribing
- UKHSA: Health protection in children and young people settings (exclusion periods); measles and chickenpox guidance
- RCPCH: Kawasaki disease and PIMS-TS guidance
- NICE NG33: Tuberculosis
- BNF for Children — for current doses
4. Respiratory and Cardiac Disease
🫁 Respiratory and heart problems in children — breathing problems are the commonest reason children are admitted to hospital, especially bronchiolitis in winter. Asthma is the commonest chronic illness of childhood, and children still die from it in the UK. Most heart murmurs in children are innocent, but congenital heart disease affects about 1 in 100 babies.
Your four questions for every child: How hard is the child working to breathe (rate, recession, saturations, feeding)? Is there stridor (upper airway) or wheeze (lower airway)? What is the age — and does that fit the diagnosis? Could this be the heart (murmur, cyanosis, hepatomegaly, poor feeding)?
Assessing the Breathless Child
| Age | Normal breathing rate / heart rate (approximate, APLS) |
|---|---|
| Under 1 year | 30–40 / 110–160 |
| 1–2 years | 25–35 / 100–150 |
| 2–5 years | 25–30 / 95–140 |
| 5–12 years | 20–25 / 80–120 |
| Over 12 years | 15–20 / 60–100 |
- Signs of increased work of breathing:
- Fast breathing; recession (subcostal, intercostal, sternal, tracheal tug).
- Nasal flaring; head bobbing (infants); grunting (a sign of severe distress).
- Accessory muscle use; tripod position.
- Difficulty feeding or talking.
- Signs of exhaustion (pre-arrest) — slowing breathing rate, reduced effort, falling heart rate, drowsiness, cyanosis, silent chest.
- Noises:
- Stridor — harsh, mainly inspiratory: upper airway (croup, laryngomalacia, epiglottitis, foreign body, anaphylaxis).
- Wheeze — musical, mainly expiratory: lower airways (bronchiolitis, asthma, viral wheeze).
- Crackles — bronchiolitis, pneumonia, heart failure.
- Oxygen saturation — normally 95% or more; under 92% needs oxygen and usually admission.
Noisy Breathing in Infants
- Laryngomalacia — the commonest cause of stridor in infants:
- Floppy tissues above the vocal cords collapse inwards on breathing in.
- Inspiratory stridor from the first weeks, worse when feeding, crying, lying on the back, or with colds; otherwise well and thriving.
- Usually resolves by 12–18 months.
- Refer if severe — faltering growth, apnoea, cyanosis, recession (surgery — supraglottoplasty).
- Other causes — subglottic stenosis (after intubation), vocal cord palsy, haemangioma (with skin haemangiomas — "beard" distribution; propranolol), vascular ring, tracheomalacia (expiratory noise).
- Snoring — adenotonsillar hypertrophy; obstructive sleep apnoea (see the Nose and Throat chapter).
Bronchiolitis
- What it is: A viral lower respiratory tract infection of children under 2 (mostly under 1, peak 3–6 months), usually RSV. Winter epidemics (October to March).
- Features (NICE NG9):
- Coryza (runny nose) for 1–3 days, then persistent cough.
- Fast breathing and/or chest recession.
- Wheeze and/or fine inspiratory crackles.
- Poor feeding; low-grade fever (high fever over 39 °C — think pneumonia).
- Apnoea — may be the only sign in young infants.
- Symptoms peak at day 3–5; cough can last 4 weeks.
- Higher risk of severe disease — under 3 months (especially under 6 weeks), preterm birth, chronic lung disease, congenital heart disease, neuromuscular disease, immunodeficiency.
- Refer or admit if:
- Apnoea (observed or reported).
- Oxygen saturation persistently under 92% in air.
- Inadequate fluid intake (50–75% of normal) or no wet nappy for 12 hours.
- Severe respiratory distress — grunting, marked recession, breathing rate over 70.
- Looks seriously unwell; central cyanosis.
- Risk factors or social concerns (lower threshold).
- Management — supportive:
- Oxygen if saturations persistently under 92% (nasal cannula; high-flow or CPAP if worsening).
- Fluids and feeding — small frequent feeds; NG or OG tube feeds if not feeding well; IV fluids if NG not tolerated (risk of hyponatraemia — isotonic fluids).
- Nasal suction only if secretions cause distress or feeding problems, or apnoea.
- Don't use — salbutamol, ipratropium, adrenaline, steroids, antibiotics, hypertonic saline, montelukast, chest physiotherapy.
- Blood gas if severe (rising CO2 — respiratory failure).
- Prevention:
- RSV vaccine in pregnancy (from 28 weeks) — protects infants in the first months.
- RSV monoclonal antibody (nirsevimab; palivizumab previously) for high-risk infants.
- Handwashing; avoiding smoke exposure.
- Safety-net — worsening breathing, pauses in breathing, blue lips, poor feeding or fewer wet nappies, exhaustion.
MLA update — NICE NG9: A persistent SpO₂ below 92% in air is a reason to consider referral. In hospital, admission and oxygen thresholds are below 90% for children aged 6 weeks or older without relevant underlying conditions, but below 92% for babies under 6 weeks or children with underlying health conditions. Clinical distress, apnoea and feeding failure may independently require admission. This distinction supersedes any simplified 92% admission threshold above. NICE NG9.
Croup
- What it is: Laryngotracheobronchitis — viral swelling of the upper airway, usually parainfluenza. Ages 6 months to 3 years; autumn peak.
- Features:
- Coryza and mild fever, then a barking ("seal-like") cough.
- Inspiratory stridor; hoarse voice.
- Worse at night; settles in 2–3 days.
- The child usually looks well.
- Severity (e.g. Westley score):
- Mild — barking cough, no stridor at rest.
- Moderate — stridor at rest, some recession, not agitated.
- Severe — stridor at rest, marked recession, agitation or lethargy, tachycardia.
- Impending respiratory failure — decreasing consciousness, cyanosis, reduced stridor and air entry (fatigue).
- Management:
- Keep the child calm (on a parent's lap); don't examine the throat or upset them.
- Oral dexamethasone 0.15 mg/kg single dose for all severities (oral prednisolone 1–2 mg/kg, or nebulised budesonide if vomiting).
- Severe — nebulised adrenaline (400 micrograms/kg of 1:1,000, maximum 5 mg/5 mL) — works quickly but wears off in 2 hours (observe); oxygen; senior anaesthetic and ENT help; intubation rarely.
- Admit if moderate to severe, under 6 months, recurrent, or not improving.
- Steam and humidified air are not effective.
- Differentials (if stridor is severe or atypical):
- Epiglottitis — toxic, drooling, high fever, no barking cough, sits forward (rare since Hib vaccine).
- Bacterial tracheitis — croup-like but high fever, toxic, thick secretions, poor response to treatment.
- Inhaled foreign body — sudden onset, no prodrome.
- Anaphylaxis; retropharyngeal abscess.
- Spasmodic croup — recurrent, sudden at night, no fever (atopic children).
Pneumonia
- Causes:
- Viruses — the commonest under 2 (RSV, influenza, rhinovirus, metapneumovirus).
- Streptococcus pneumoniae — the commonest bacterial cause at all ages.
- Mycoplasma pneumoniae — school-age children (headache, sore throat, rash, gradual onset).
- Group A strep and Staph aureus (after influenza or chickenpox — severe, empyema).
- Neonates — GBS, Gram-negatives.
- Features — fever, cough, fast breathing, recession, crackles or bronchial breathing, reduced breath sounds; abdominal pain (lower lobe), neck stiffness (upper lobe); wheeze makes bacterial pneumonia less likely.
- Tests:
- Chest X-ray is not routine — do it if severe, not improving, or complications suspected.
- Oxygen saturation; FBC, CRP and blood cultures if admitted.
- Admit if — saturations under 92%, severe distress, grunting, apnoea, not feeding, dehydrated, or under 3 months.
- Treatment (NICE NG138):
- Amoxicillin for 5 days (oral) — first line.
- Clarithromycin (or erythromycin) if penicillin allergic, or atypical (Mycoplasma) suspected.
- Co-amoxiclav if after influenza, complicated, or aspiration.
- IV antibiotics if severe or unable to take oral.
- Many mild cases in young children are viral and don't need antibiotics.
- Complications:
- Parapneumonic effusion and empyema — persistent fever after 48 hours of antibiotics, chest pain, dull to percussion: ultrasound, chest drain, fibrinolytics, or surgery.
- Lung abscess; necrotising pneumonia; sepsis; HUS (pneumococcal).
- Recurrent pneumonia — consider inhaled foreign body, aspiration, cystic fibrosis, immunodeficiency, congenital lung malformation, primary ciliary dyskinesia, heart disease.
Whooping Cough
- Bordetella pertussis — very infectious; large UK outbreaks (e.g. 2024); most dangerous in babies under 3 months (deaths in unvaccinated infants).
- Stages:
- Catarrhal (1–2 weeks) — cold-like symptoms (most infectious stage).
- Paroxysmal (2–8 weeks) — bouts of coughing, often worse at night, followed by an inspiratory "whoop", vomiting after coughing, red or blue face; well between bouts.
- Convalescent — weeks to months ("100-day cough").
- Infants — may not whoop; apnoea, cyanosis, feeding difficulty, seizures; complications include pneumonia, pulmonary hypertension, brain injury.
- Diagnosis:
- PCR on a nasopharyngeal swab (within 2–3 weeks of cough onset).
- Serology (anti-pertussis toxin IgG) or oral fluid test later.
- FBC — marked lymphocytosis.
- Management:
- Macrolide if within 21 days of cough onset (reduces spread, not symptoms) — azithromycin (under 1 month and others) or clarithromycin; co-trimoxazole if macrolides unsuitable.
- Admit infants under 6 months who are unwell, have apnoea or cyanosis, or feed poorly.
- Notify UKHSA; antibiotic prophylaxis for close contacts in priority groups (e.g. infants, pregnant women).
- Exclude from school for 48 hours after starting antibiotics (or 21 days from cough onset if not treated).
- Prevention — maternal pertussis vaccine in every pregnancy (from 16 weeks); infant 6-in-1 vaccines; pre-school booster.
Choking and Inhaled Foreign Body
- Choking (Resuscitation Council UK):
- Effective cough (can cry, cough, breathe) — encourage coughing; watch closely.
- Ineffective cough, conscious:
- Infants (under 1) — up to 5 back blows (head down, along the thigh) then up to 5 chest thrusts (two fingers on the lower sternum).
- Children over 1 — up to 5 back blows then up to 5 abdominal thrusts.
- Repeat; call for help.
- Unconscious — open the airway, 5 rescue breaths, start CPR.
- Avoid blind finger sweeps.
- Inhaled foreign body (peanuts, small toys, seeds — mainly 1–3 year olds):
- Sudden choking episode then persistent cough; may seem to settle.
- One-sided wheeze or reduced breath sounds; recurrent pneumonia in the same lobe (usually the right main bronchus).
- Chest X-ray — most objects are not visible; air trapping (hyperinflation on the affected side, best seen on an expiratory film), collapse.
- Rigid bronchoscopy to remove it — don't wait for X-ray changes if the history is suggestive.
- Swallowed button batteries and magnets — emergencies (see the ENT Emergencies chapter).
Preschool Wheeze
- Very common in children under 5 — about a third wheeze at some point; most grow out of it.
- Patterns:
- Episodic viral wheeze — wheeze only with colds, well between episodes; usually outgrown by school age.
- Multiple-trigger wheeze — wheeze with colds and other triggers (exercise, allergens, smoke) and between episodes; more likely to become asthma (especially with eczema, allergies or family history of atopy).
- Acute episode — salbutamol via spacer and mask; oral prednisolone is not routinely recommended for viral wheeze in under-5s unless admitted and severe.
- Prevention (NICE NG245, children under 5 with suspected asthma):
- An 8–12 week trial of twice-daily paediatric moderate-dose inhaled corticosteroid, with salbutamol as needed.
- Stop at the end of the trial — if symptoms return, restart low-dose ICS; a leukotriene receptor antagonist (montelukast) is an add-on or alternative.
- Diagnosis of asthma is confirmed later, when the child can do objective tests (from about 5).
- Avoid smoke exposure; inhaler technique with a spacer and mask.
Asthma — Diagnosis
- Symptoms — wheeze, cough (especially at night and with exercise), breathlessness, chest tightness; variable and triggered by viral infections, exercise, cold air, allergens (pets, dust mite, pollen), smoke; personal or family history of atopy (eczema, hay fever).
- Objective tests (BTS/NICE/SIGN NG245), children 5–16:
- FeNO (fractional exhaled nitric oxide) — 35 ppb or more supports asthma.
- If FeNO isn't available or is normal — spirometry with bronchodilator reversibility (FEV1 increase of 12% or more).
- Peak flow variability (over 20% over 2 weeks) or skin prick / IgE / eosinophil count to support.
- Children under 5 — clinical diagnosis based on pattern and response to treatment.
- Features suggesting something else — symptoms from birth, wet productive cough, faltering growth, finger clubbing, focal signs, persistent one-sided wheeze, stridor, recurrent pneumonia — consider CF, foreign body, primary ciliary dyskinesia, immunodeficiency, aspiration, congenital abnormalities, heart disease.
Asthma — Long-term Treatment
- Children 5–11 (NICE NG245 algorithm):
- Newly diagnosed — twice-daily paediatric low-dose ICS, with a SABA (salbutamol) reliever.
- Uncontrolled — if the child can manage it, low-dose MART (maintenance and reliever therapy with ICS/formoterol — off-label under 12); if not, add a leukotriene receptor antagonist (montelukast) for 8–12 weeks (stop if not effective).
- Still uncontrolled — moderate-dose MART, or twice-daily ICS/LABA combination (± LTRA) with SABA.
- Still uncontrolled — refer to a specialist.
- Young people 12 and over — as for adults: as-needed ICS/formoterol (anti-inflammatory reliever, AIR) first line, then MART (see the Airways Disease chapter).
- "Uncontrolled" means — any attack needing oral steroids, or reliever use on 3 or more days a week, or waking at night once a week or more.
- Before stepping up, check:
- Inhaler technique (pMDI with a spacer for all children; mask for young children); adherence.
- Smoke or vape exposure; mould and damp housing; allergens; alternative diagnoses; psychosocial factors.
- Every child should have:
- A personalised asthma action plan (written).
- A yearly asthma review (and after every attack); school asthma plan and spare inhaler.
- Influenza vaccination.
- Side effects of ICS — oral thrush and hoarseness (spacer, rinse mouth), small effect on growth (monitor height at higher doses), adrenal suppression at high doses (steroid card).
- Montelukast — MHRA warning about neuropsychiatric effects (sleep disturbance, nightmares, agitation, low mood, suicidal thoughts) — warn families.
- SABA overuse — using 3 or more salbutamol inhalers a year is a marker of poor control and increased risk of death.
Acute Asthma
| Severity (BTS/SIGN) | Features |
|---|---|
| Moderate | Able to talk; SpO2 92% or more; peak flow 50% or more of best or predicted |
| Severe | SpO2 under 92%; PEF 33–50%; can't complete sentences or too breathless to talk or feed; heart rate over 140 (age 2–5) or over 125 (over 5); breathing rate over 40 (age 2–5) or over 30 (over 5); accessory muscle use |
| Life-threatening | SpO2 under 92% plus any of: PEF under 33%, silent chest, poor respiratory effort, cyanosis, exhaustion, agitation, altered consciousness, hypotension |
- Treatment:
- Oxygen to keep SpO2 94–98%.
- Salbutamol — via pMDI and spacer, 1 puff at a time, up to 10 puffs, repeated every 20–30 minutes as needed; nebulised salbutamol (2.5 mg under 5, 5 mg over 5) with oxygen if severe or life-threatening ("back-to-back" if needed).
- Ipratropium bromide nebulised (250 micrograms) — add if poor response to salbutamol (severe).
- Oral prednisolone — early (within the first hour): 1–2 mg/kg (age 2–5: 20 mg; over 5: 30–40 mg; maximum 40 mg) for 3 days; IV hydrocortisone if vomiting or very unwell.
- If not responding — IV magnesium sulfate (40 mg/kg, maximum 2 g, over 20 minutes); IV salbutamol; IV aminophylline (in PICU settings); senior and PICU review.
- Chest X-ray only if pneumothorax, consolidation or life-threatening features.
- Blood gas — a normal or rising pCO2 in a child with severe asthma is a sign of exhaustion.
- Antibiotics are not routinely needed.
- Discharge — when stable on salbutamol every 3–4 hours; check inhaler technique; action plan; complete prednisolone; GP review within 2 working days; consider stepping up preventer.
- Risk factors for fatal asthma — previous ICU admission, frequent attacks, heavy SABA use, poor adherence, psychosocial problems, adolescents.
⚠️ Safety Pearl: A quiet chest in a child with asthma is not good news — a silent chest, drowsiness and a "normal" CO2 mean the child is tiring and close to respiratory arrest. Call for senior and PICU help.
Cystic Fibrosis
- What it is: An autosomal recessive condition (about 1 in 2,500 UK babies; carriers about 1 in 25) caused by variants in the CFTR chloride channel gene — the commonest is F508del. Thick secretions affect the lungs, pancreas, gut, liver and reproductive tract.
- Diagnosis:
- Newborn blood spot screening (raised immunoreactive trypsinogen, then gene testing).
- Sweat test — chloride 60 mmol/L or more confirms.
- Genetic testing.
- Features:
- Newborn — meconium ileus (bowel obstruction), prolonged jaundice.
- Lungs — recurrent chest infections, chronic wet cough, bronchiectasis; infections with Staph aureus, Haemophilus, Pseudomonas aeruginosa, Burkholderia cepacia, non-tuberculous mycobacteria; nasal polyps, sinusitis.
- Gut — pancreatic insufficiency (pale, bulky, greasy, smelly stools — steatorrhoea; faltering growth); distal intestinal obstruction syndrome; rectal prolapse.
- Other — CF-related diabetes, CF liver disease, finger clubbing, salt loss in heat, male infertility (absent vas deferens), osteoporosis.
- Management (specialist CF centre, MDT):
- CFTR modulators — e.g. elexacaftor/tezacaftor/ivacaftor (Kaftrio) for eligible variants (most patients) — dramatically improve lung function and weight.
- Airway clearance — daily chest physiotherapy, exercise.
- Mucolytics — dornase alfa, hypertonic saline.
- Antibiotics — prophylactic flucloxacillin (young children, in many centres); treat infections promptly; Pseudomonas eradication and nebulised antibiotics (tobramycin, colistin).
- Nutrition — pancreatic enzyme replacement (Creon) with meals and snacks; high-calorie, high-fat diet; fat-soluble vitamins (A, D, E, K); salt supplements.
- Infection control — patients shouldn't meet each other (cross-infection).
- Screen for diabetes and liver disease; lung transplant in end-stage disease.
- Life expectancy — now over 50 years and improving with modulators.
Chronic Cough and Other Lung Conditions
- Chronic cough (over 4 weeks in children) — causes:
- Post-viral cough (common); asthma; pertussis.
- Protracted bacterial bronchitis — wet cough for over 4 weeks in a young child, otherwise well; responds to 2 weeks of co-amoxiclav.
- Inhaled foreign body; aspiration (neurodisability, reflux).
- Cystic fibrosis; primary ciliary dyskinesia; bronchiectasis; immunodeficiency; TB.
- Upper airway (postnasal drip); habit cough (disappears during sleep); smoke exposure.
- Red flags — wet productive cough, faltering growth, clubbing, haemoptysis, chest deformity, neonatal onset, cough with feeding.
- Primary ciliary dyskinesia — autosomal recessive: neonatal breathing problems, year-round wet cough and runny nose from birth, recurrent otitis media and glue ear; half have situs inversus (Kartagener syndrome); later bronchiectasis and infertility.
- Congenital lung malformations — congenital pulmonary airway malformation, sequestration — often found on antenatal scans.
- Bronchopulmonary dysplasia — chronic lung disease of prematurity (see the Neonatology chapter).
Heart Murmurs
- Innocent murmurs are very common (up to half of children at some point), often heard during a fever or illness.
- Features of an innocent murmur (the "4 S's" and more):
- Soft (grade 1–2).
- Systolic (never diastolic).
- Short, at the left sternal edge.
- Symptomless child.
- Changes with position (sitting or standing).
- Normal heart sounds, no thrill, no radiation, normal pulses.
- Types — Still's murmur (vibratory, left sternal edge), venous hum (continuous, below the clavicle, disappears when lying down or pressing on the neck), pulmonary flow murmur.
- Features suggesting a pathological murmur:
- Diastolic, pansystolic or continuous (not a venous hum).
- Loud (grade 3 or more), with a thrill, or radiating.
- Abnormal heart sounds (fixed split S2, single S2), clicks.
- Symptoms — breathlessness, poor feeding, faltering growth, sweating with feeds, cyanosis, syncope, chest pain on exercise.
- Weak or absent femoral pulses (coarctation).
- Murmur in a newborn or in a child with a syndrome (Down, Turner, Williams, 22q11, Noonan).
- Investigations — four-limb BP, pre- and post-ductal saturations, ECG, chest X-ray, echocardiogram (definitive).
Acyanotic Congenital Heart Disease
| Lesion | Features and management |
|---|---|
| Ventricular septal defect (VSD) — the commonest | Pansystolic murmur at the lower left sternal edge (small defects are louder). Small — often close by themselves. Large — heart failure at 4–6 weeks (as lung resistance falls), poor feeding, faltering growth; surgical closure. Risk of Eisenmenger syndrome if untreated. |
| Atrial septal defect (ASD) | Often no symptoms in childhood; ejection systolic murmur at the upper left sternal edge with fixed split second heart sound. Closure (often device) if significant. Primum ASD/AVSD in Down syndrome. |
| Atrioventricular septal defect (AVSD) | Strongly associated with Down syndrome (echo all babies with Down syndrome); heart failure in infancy; surgery at 3–6 months. |
| Patent ductus arteriosus (PDA) | Common in preterm babies; continuous "machinery" murmur below the left clavicle; bounding pulses, wide pulse pressure. Preterm — ibuprofen or paracetamol; term — device closure. |
| Coarctation of the aorta | Weak or delayed femoral pulses, BP higher in arms than legs, murmur at the back (left infrascapular). Severe — collapse at 2–3 days as the duct closes (prostaglandin). Older children — hypertension. Turner syndrome. Surgery or balloon or stent. |
| Aortic stenosis | Ejection systolic murmur at the upper right sternal edge radiating to the neck; thrill; exertional syncope or chest pain; severe in newborns (duct-dependent). Balloon valvotomy or surgery. Williams syndrome (supravalvular). |
| Pulmonary stenosis | Ejection systolic murmur at the upper left sternal edge, ejection click; Noonan syndrome; balloon valvotomy. |
Cyanotic Congenital Heart Disease
- Tetralogy of Fallot — the commonest cyanotic lesion overall:
- Four features — VSD, overriding aorta, right ventricular outflow (pulmonary) obstruction, right ventricular hypertrophy.
- Cyanosis (variable — worse with more outflow obstruction); ejection systolic murmur (from the pulmonary stenosis); "boot-shaped" heart on X-ray.
- Hypercyanotic ("tet") spells — sudden worsening cyanosis, irritability, breathlessness, sometimes collapse, often after crying or feeding. Older children squat instinctively. Treatment — knee-to-chest position, oxygen, morphine, IV fluids, propranolol, phenylephrine.
- Association — 22q11 deletion (DiGeorge).
- Surgical repair at about 6 months.
- Transposition of the great arteries (TGA) — the aorta comes off the right ventricle and the pulmonary artery off the left (two parallel circulations):
- Severe cyanosis in the first days of life (as the duct closes), often with no murmur; "egg on a string" on X-ray.
- Prostaglandin to keep the duct open; balloon atrial septostomy; arterial switch operation in the first weeks.
- Linked to maternal diabetes.
- Other cyanotic lesions — tricuspid atresia, pulmonary atresia, total anomalous pulmonary venous drainage, truncus arteriosus, hypoplastic left heart syndrome (collapse when the duct closes; staged surgery — Norwood, Glenn, Fontan).
- Eisenmenger syndrome — an untreated left-to-right shunt (VSD, AVSD, PDA) causes pulmonary hypertension, then the shunt reverses: late cyanosis, clubbing, polycythaemia. Prevented by early repair.
- Long-term — many survive to adulthood (grown-up congenital heart disease clinics); endocarditis risk; arrhythmias; pregnancy planning. See the Congenital Heart Disease chapter.
Heart Failure in Infants
- Causes — large left-to-right shunts (VSD, AVSD, large PDA), left heart obstruction (coarctation, aortic stenosis, HLHS), cardiomyopathy, myocarditis, arrhythmias (SVT), severe anaemia.
- Features:
- Poor feeding, breathless or sweaty during feeds, taking a long time to feed.
- Faltering growth.
- Fast breathing, recession, recurrent chest infections.
- Hepatomegaly (liver edge felt well below the ribs) — a key sign in infants (peripheral oedema is rare).
- Tachycardia, gallop rhythm, cardiomegaly.
- Management — diuretics (furosemide, spironolactone); ACE inhibitors (captopril) in some; high-calorie feeds, NG feeding; treat anaemia; surgery or catheter intervention for the underlying defect.
Arrhythmias, Chest Pain and Syncope
- Supraventricular tachycardia (SVT) — the commonest arrhythmia in children:
- Infants — heart rate over 220, poor feeding, pallor, irritability, heart failure if prolonged. Older children — rate over 180, palpitations, chest discomfort, dizziness.
- Treatment — if stable: vagal manoeuvres (infants — ice-cold water or a bag of ice on the face; older children — blowing into a syringe, modified Valsalva); then IV adenosine (rapid bolus, increasing doses); if shocked — synchronised DC cardioversion.
- Wolff–Parkinson–White syndrome (delta wave) — refer.
- Chest pain in children — usually musculoskeletal (costochondritis), respiratory, reflux, or anxiety. Cardiac causes are rare: exertional pain or syncope, pericarditis, myocarditis, Kawasaki (coronary), cocaine, aortic dissection (Marfan).
- Syncope (fainting):
- Vasovagal — the commonest: standing, heat, pain, sight of blood; warning symptoms (light-headed, hot, nausea, tunnel vision); quick recovery.
- Red flags (refer urgently to cardiology) — syncope during exercise, triggered by loud noises or swimming, with palpitations or chest pain, while lying down, a family history of sudden death under 40, abnormal ECG or examination.
- Causes to exclude — long QT syndrome, hypertrophic cardiomyopathy, Brugada syndrome, catecholaminergic VT, aortic stenosis, WPW.
- ECG for every child with syncope.
- Reflex anoxic seizures and breath-holding spells (toddlers) — after a bump or upset: going pale or blue, brief loss of consciousness, sometimes jerks; benign; reassurance (check FBC — iron deficiency in breath-holding).
Acquired Heart Disease
- Kawasaki disease — coronary artery aneurysms (see the Paediatric Infections chapter).
- Myocarditis — viral (enteroviruses, COVID-19), PIMS-TS; breathlessness, chest pain, tachycardia out of proportion to fever, arrhythmias, heart failure, sudden death. Troponin, ECG, echo; supportive care in PICU.
- Pericarditis — sharp chest pain, better sitting forward, friction rub; viral, bacterial (purulent), post-surgical.
- Infective endocarditis — children with congenital heart disease (especially after surgery or with prosthetic material): prolonged fever, new murmur, splenomegaly, embolic signs. Blood cultures, echo, prolonged IV antibiotics. Good dental hygiene is key; antibiotic prophylaxis is not routinely recommended in the UK (NICE).
- Acute rheumatic fever — rare in the UK, common worldwide: after group A strep throat infection — carditis, polyarthritis, Sydenham's chorea, erythema marginatum, subcutaneous nodules (Jones criteria); penicillin prophylaxis; rheumatic valve disease (mitral).
- Cardiomyopathy — hypertrophic (family screening, sudden death risk), dilated (myocarditis, genetic, muscular dystrophies, anthracyclines).
- Hypertension in children — usually secondary in younger children (kidney disease, coarctation, endocrine); primary hypertension in obese teenagers. Use age-, sex- and height-specific centiles.
Drug Reference Table
| Drug | Key points |
|---|---|
| Dexamethasone 0.15 mg/kg oral | Croup — single dose for all severities. |
| Nebulised adrenaline 400 micrograms/kg (max 5 mg) | Severe croup; effect lasts about 2 hours — observe. |
| Amoxicillin | Community-acquired pneumonia — 5 days. |
| Clarithromycin / azithromycin | Mycoplasma pneumonia; pertussis (within 21 days); penicillin allergy. |
| Co-amoxiclav | Protracted bacterial bronchitis (2 weeks); pneumonia after influenza. |
| Salbutamol (pMDI + spacer / nebulised) | Reliever; acute asthma up to 10 puffs, repeat every 20–30 minutes; not for bronchiolitis. |
| Ipratropium nebulised | Add-on in severe acute asthma. |
| Prednisolone 1–2 mg/kg (max 40 mg) for 3 days | Acute asthma. |
| Magnesium sulfate IV 40 mg/kg (max 2 g) | Severe acute asthma not responding. |
| Inhaled corticosteroid (beclometasone, budesonide, fluticasone) | Asthma preventer; spacer; monitor growth at higher doses. |
| Montelukast | LTRA add-on (5–11) or preschool wheeze; neuropsychiatric side effects. |
| Elexacaftor/tezacaftor/ivacaftor | CFTR modulator for cystic fibrosis (eligible variants); liver tests. |
| Pancreatin (Creon) | Pancreatic insufficiency in CF, with meals. |
| Dornase alfa | Mucolytic in CF. |
| Adenosine IV | SVT after failed vagal manoeuvres; rapid bolus. |
| Furosemide / spironolactone | Heart failure in infants. |
| Propranolol | Tetralogy spells; infantile haemangioma. |
| Alprostadil | Duct-dependent congenital heart disease; apnoea. |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| 4-month-old in December with coryza, then cough, crackles and wheeze | Bronchiolitis |
| 2-year-old with barking cough and stridor at night | Croup |
| Toxic, drooling, high fever, no cough, sitting forward | Epiglottitis |
| Inspiratory stridor worse when feeding in a thriving 6-week-old | Laryngomalacia |
| Coughing fits ending in vomiting and a whoop; lymphocytosis | Whooping cough |
| Sudden cough after eating peanuts, one-sided wheeze | Inhaled foreign body |
| Wet cough for 6 weeks in a well toddler, resolves with co-amoxiclav | Protracted bacterial bronchitis |
| Night cough, wheeze with exercise, eczema, FeNO 42 ppb | Asthma |
| Silent chest and drowsiness during an asthma attack | Life-threatening asthma |
| Recurrent chest infections, greasy stools and faltering growth | Cystic fibrosis |
| Wet cough from birth, glue ear and dextrocardia | Kartagener syndrome (PCD) |
| Soft systolic murmur during a fever that changes when sitting up | Innocent murmur |
| Pansystolic murmur at the lower left sternal edge, sweaty feeds at 6 weeks | Large VSD with heart failure |
| Fixed split second heart sound | ASD |
| Machinery murmur and bounding pulses in a preterm baby | PDA |
| Hypertension in the arms with weak femoral pulses in a girl with Turner syndrome | Coarctation of the aorta |
| Toddler squatting after running; boot-shaped heart | Tetralogy of Fallot |
| Severe cyanosis on day 2, no murmur, egg-on-a-string X-ray | Transposition of the great arteries |
| Heart rate 260 in a pale, poorly feeding baby | SVT |
| Collapse while swimming; family history of sudden death | Long QT syndrome |
Exam-style Scenarios
1. A 3-month-old has had a cold for 2 days and now a cough, breathing rate 64, subcostal recession, and fine crackles. Saturations 90% in air; she is taking half her usual feeds.
Answer: Bronchiolitis needing admission.
- Oxygen to keep saturations at 92% or more; NG feeds; nasal suction if secretions affect feeding.
- No salbutamol, steroids or antibiotics.
- Escalate to high-flow or CPAP if worsening; watch for apnoea.
2. A 20-month-old has a barking cough and stridor at rest, with moderate recession. He is not agitated.
Answer: Moderate croup.
- Keep calm; don't examine the throat.
- Oral dexamethasone 0.15 mg/kg.
- Observe; nebulised adrenaline and oxygen if it becomes severe.
3. A 7-year-old with asthma can't complete sentences. Saturations 91%, heart rate 135, breathing rate 34.
Answer: Severe acute asthma.
- Oxygen; nebulised salbutamol 5 mg (back-to-back if needed) with ipratropium.
- Oral prednisolone 30–40 mg (or IV hydrocortisone).
- IV magnesium if not improving; senior and PICU review if life-threatening features.
4. A 2-year-old suddenly coughed and choked while eating nuts yesterday. Today he has a cough and reduced breath sounds on the right.
Answer: Inhaled foreign body.
- Chest X-ray (inspiratory and expiratory) — may show air trapping.
- Rigid bronchoscopy for removal even if the X-ray is normal.
5. A 6-week-old feeds slowly and sweats during feeds. Weight has dropped from the 50th to the 9th centile. There is a loud pansystolic murmur and the liver is 3 cm below the ribs.
Answer: Heart failure from a large VSD (or AVSD).
- Echocardiogram; urgent cardiology referral.
- Diuretics (furosemide, spironolactone); high-calorie or NG feeds.
- Surgical closure; check for Down syndrome features.
Key Points
- Stridor = upper airway; wheeze = lower airway; grunting means severe distress.
- Bronchiolitis: under 2, RSV, coryza then cough, crackles ± wheeze — supportive care only; oxygen if under 92%; NG feeds.
- Croup: barking cough and stridor — dexamethasone 0.15 mg/kg for all; nebulised adrenaline if severe.
- Pneumonia: amoxicillin 5 days; macrolide for Mycoplasma; chest X-ray not routine.
- Whooping cough: macrolide within 21 days; dangerous in young infants; maternal vaccine protects.
- Choking: 5 back blows then 5 chest thrusts (infants) or abdominal thrusts (over 1).
- Inhaled foreign body: rigid bronchoscopy if the history fits, even with a normal X-ray.
- Under 5s with suspected asthma: 8–12 week ICS trial; 5–11: low-dose ICS, then MART or LTRA, then ICS/LABA.
- Check inhaler technique, adherence and smoke exposure before stepping up; give every child an action plan.
- Acute asthma: salbutamol via spacer (up to 10 puffs), prednisolone early, ipratropium, IV magnesium; a silent chest or rising CO2 means exhaustion.
- CF: newborn screening, sweat chloride 60 or more; CFTR modulators, physio, enzymes, vitamins A, D, E and K.
- Innocent murmurs: soft, systolic, short, symptomless, change with position.
- VSD is the commonest CHD; tetralogy is the commonest cyanotic lesion; TGA presents with severe cyanosis in the first days.
- Heart failure in infants: poor feeding, sweating, faltering growth, hepatomegaly.
- SVT: vagal manoeuvres (ice to the face in infants), then adenosine.
- Exertional syncope or family history of sudden death needs urgent cardiology; ECG for every faint.
Guidelines and Further Reading
- NICE NG9: Bronchiolitis in children
- NICE NG245: Asthma — diagnosis, monitoring and chronic asthma management (BTS, NICE and SIGN)
- BTS/SIGN: Management of acute asthma in children
- NICE NG138: Pneumonia (community-acquired) — antimicrobial prescribing
- UKHSA: Guidelines for the public health management of pertussis
- NICE NG78: Cystic fibrosis — diagnosis and management
- Resuscitation Council UK: Paediatric basic life support and choking
- APLS: Advanced Paediatric Life Support manual
- BNF for Children — for current doses
5. Gastroenterology and Paediatric Surgery
🧒 Gastroenterology and surgery in children — vomiting, tummy pain and constipation are everyday problems, and most are benign. The skill is spotting the surgical emergencies: bilious vomiting (malrotation with volvulus), intussusception, appendicitis (often atypical and perforated in young children), and testicular torsion. Age is a powerful clue to the cause.
Your four questions for every child: Is the vomit green (bilious) — a surgical emergency? Is the child growing normally? Is there blood in the stool, a mass, or peritonism? In boys with abdominal pain, have I examined the testes?
The Vomiting Child — Approach
| Age | Common and important causes |
|---|---|
| Newborn | Possetting; feeding problems; bilious — malrotation and volvulus, duodenal atresia, Hirschsprung's, meconium ileus, NEC; sepsis; metabolic disorders; CAH |
| Infant | Reflux; gastroenteritis; pyloric stenosis (2–8 weeks); CMPA; UTI; intussusception; meningitis; overfeeding |
| Older child | Gastroenteritis; infections (UTI, otitis, tonsillitis, pneumonia); appendicitis; DKA; raised intracranial pressure (brain tumour — morning vomiting with headache); migraine; poisoning; pregnancy; eating disorders |
- Red flags:
- Bilious (green) vomiting — surgical emergency (malrotation with volvulus until proven otherwise).
- Projectile vomiting in a 2–8 week old (pyloric stenosis).
- Blood in vomit (haematemesis) or stools.
- Abdominal distension, tenderness, or a mass.
- Dehydration, lethargy, bulging fontanelle, seizures, headache, early morning vomiting.
- Faltering growth.
Reflux and GORD
- Gastro-oesophageal reflux (GOR) — very common in babies (immature lower oesophageal sphincter, liquid diet, lying flat). Effortless regurgitation ("possetting"), starting before 8 weeks; usually resolves by 12 months. The baby is thriving — no treatment needed.
- GORD — reflux causing complications or troublesome symptoms.
- Features of GORD — distress, back arching and crying with feeds, feed refusal, faltering growth, chronic cough, hoarseness, recurrent pneumonia (aspiration), Sandifer syndrome (abnormal head and neck posturing).
- Higher risk — preterm, neurodisability (cerebral palsy), repaired oesophageal atresia or diaphragmatic hernia, obesity.
- Red flags (another cause likely) — bilious or projectile vomiting, haematemesis, starting after 6 months or persisting after 1 year, bloody stools, abdominal distension, fever, bulging fontanelle, faltering growth.
- Management (NICE NG1):
- Reassurance — common, harmless, improves with time.
- Feeding review — avoid overfeeding; smaller, more frequent feeds; keep upright after feeds; check breastfeeding technique.
- Breastfed — trial of alginate (Gaviscon Infant) for 1–2 weeks.
- Formula-fed — trial of thickened feeds (or anti-reflux formula), then alginate if no better.
- PPI or H2 blocker (4-week trial) — only for unexplained feeding difficulties, distress or faltering growth with suspected oesophagitis, or in older children with heartburn.
- Don't use positional treatment (raising the cot) — sleep flat on the back.
- Consider CMPA (trial of hydrolysed formula) if other allergic features.
- Severe cases — pH or impedance studies, endoscopy, fundoplication.
Pyloric Stenosis
- What it is: Thickening of the pyloric muscle, blocking the stomach outlet.
- Who: Babies aged 2–8 weeks; boys (4–5 times more), often first-born; family history.
- Features:
- Projectile, non-bilious vomiting straight after feeds, getting worse.
- Hungry after vomiting ("hungry vomiter").
- Weight loss, dehydration, constipation.
- Olive-shaped mass in the right upper abdomen (felt during a test feed); visible peristalsis.
- Blood gas — hypochloraemic, hypokalaemic metabolic alkalosis (loss of stomach acid).
- Diagnosis — ultrasound (thickened, elongated pylorus).
- Management:
- Correct dehydration and electrolytes first (IV 0.9% saline with glucose and potassium) — anaesthesia is unsafe with alkalosis (breathing depression).
- Stop feeds; NG tube.
- Pyloromyotomy (Ramstedt — laparoscopic or open); feeding restarts within hours; excellent outcome.
Malrotation and Volvulus
- What it is: The gut doesn't rotate properly in development, leaving the small bowel on a narrow mesentery that can twist (volvulus) and cut off its blood supply. The whole midgut can die within hours.
- Who: Usually in the first month (most in the first year), but can occur at any age.
- Features:
- Sudden bilious (green) vomiting — the key sign.
- Abdominal pain, irritability, distension (may be absent early).
- Blood in stools, shock and peritonitis (late — bowel ischaemia).
- Older children — intermittent pain and vomiting.
- Diagnosis — urgent upper GI contrast study (abnormal position of the duodenojejunal flexure; "corkscrew" duodenum); ultrasound may show whirlpool sign. Don't delay surgery for imaging if the child is unwell.
- Management — resuscitation, NG tube, IV antibiotics, emergency laparotomy (Ladd's procedure).
⚠️ Safety Pearl: Bilious vomiting in a baby is malrotation with volvulus until proven otherwise — refer immediately to paediatric surgery. Delay can mean losing the entire small bowel.
Intussusception
- What it is: One segment of bowel telescopes into the next — usually the ileum into the caecum (ileocolic), causing obstruction and ischaemia.
- Who: 6 months to 2 years (peak 6–18 months); boys more than girls; often after a viral illness (enlarged lymphoid patches act as the lead point).
- Features:
- Episodes of severe colicky pain — the child screams, draws up the legs, goes pale, then may be quiet or lethargic between episodes.
- Vomiting (bilious later).
- "Redcurrant jelly" stools (blood and mucus) — a late sign.
- Sausage-shaped mass in the right upper abdomen; empty right iliac fossa.
- Lethargy (may be the main feature); shock.
- Diagnosis — ultrasound ("target" or "doughnut" sign).
- Management:
- Resuscitation (fluids), NG tube, antibiotics if unwell.
- Air (pneumatic) enema reduction under X-ray guidance — successful in most.
- Surgery if peritonitis, perforation, shock, or failed reduction.
- Recurrence in about 10%.
- Older children (over 3) — look for a pathological lead point: Meckel's diverticulum, polyp, lymphoma, IgA vasculitis (HSP), CF.
Acute Abdominal Pain
- Surgical causes — appendicitis, intussusception, malrotation, bowel obstruction (adhesions, hernia), testicular torsion, ovarian torsion, Meckel's diverticulitis, trauma (including NAI — liver, spleen, duodenal haematoma).
- Medical causes:
- Gastroenteritis; constipation (very common).
- Mesenteric adenitis — swollen abdominal lymph nodes after a viral illness; mimics appendicitis.
- UTI and pyelonephritis.
- Lower lobe pneumonia; tonsillitis (abdominal pain is common in young children).
- DKA — always check glucose.
- IgA vasculitis (HSP); sickle cell crisis; HUS.
- Pancreatitis, gallstones (haemolytic disease), hepatitis; pregnancy and ectopic in teenagers.
- Examine — chest, throat, abdomen, hernial orifices and testes; urine dipstick; glucose; pregnancy test in girls after menarche.
Appendicitis
- The commonest surgical emergency in children (peak 10–20 years; rare under 3).
- Features:
- Central (periumbilical) pain moving to the right iliac fossa.
- Loss of appetite, nausea, vomiting (usually after the pain starts).
- Low-grade fever; pain on walking, jumping or coughing; lying still.
- Tenderness and guarding at McBurney's point; rebound; Rovsing's sign.
- Young children (under 5) — atypical, harder to examine, and perforation is common at presentation (diffuse peritonitis, vomiting, fever, irritability, limp).
- Tests — FBC and CRP (raised but not diagnostic), urine (exclude UTI — mild pyuria can occur in appendicitis), pregnancy test; ultrasound; scoring tools (e.g. Paediatric Appendicitis Score, Alvarado).
- Management — analgesia (morphine is fine — doesn't mask signs), IV fluids, antibiotics, laparoscopic appendicectomy; antibiotics alone for selected uncomplicated cases (specialist decision). Perforated — longer antibiotics; abscess may need drainage.
- Mesenteric adenitis — recent viral illness, high fever, less localised tenderness; ultrasound shows enlarged nodes; self-limiting.
Recurrent and Functional Abdominal Pain
- Very common in school-age children (about 1 in 10); most is functional (no disease found).
- Functional abdominal pain disorders:
- Functional abdominal pain — central pain, often linked to stress (school, family), well between episodes, normal growth.
- Irritable bowel syndrome — pain with change in stool form or frequency.
- Abdominal migraine — episodes of central pain with nausea, vomiting, pallor, lasting hours; family history of migraine; later migraine headaches.
- Functional dyspepsia.
- Red flags (look for organic disease):
- Pain that wakes the child; pain away from the umbilicus (especially right-sided).
- Weight loss, faltering growth, delayed puberty.
- Blood in stools, chronic diarrhoea, persistent vomiting.
- Fever, joint pains, rash, mouth ulcers, perianal disease.
- Family history of IBD or coeliac disease.
- Abnormal examination; raised inflammatory markers or calprotectin.
- Organic causes — constipation, coeliac disease, IBD, UTI, H. pylori, lactose intolerance, gallstones, pancreatitis, gynaecological causes in teenagers.
- Basic tests — FBC, CRP/ESR, coeliac serology, urine, faecal calprotectin (if diarrhoea).
- Management of functional pain — explanation that the pain is real but not dangerous; address triggers and school stress; regular routines; CBT and gut-directed hypnotherapy; avoid repeated unnecessary tests.
Constipation
- Very common; usually functional (idiopathic) — often starts with weaning, toilet training or starting school, or after a painful stool (fissure), leading to withholding.
- Features — infrequent hard stools (fewer than 3 a week), large stools that may block the toilet, straining and pain, "rabbit droppings", overflow soiling (loose, smelly stools leaking — often mistaken for diarrhoea), withholding behaviours (stiff legs, hiding), abdominal pain, poor appetite.
- Red flags (NICE CG99 — possible underlying cause):
- Starting from birth or the first few weeks.
- Delayed passage of meconium (over 48 hours in a term baby) — Hirschsprung's, CF.
- "Ribbon" stools; abnormal anus position.
- Abdominal distension with vomiting.
- Abnormal lower limb neurology, gait, or spine (sacral dimple, hair tuft — spinal cord problems).
- Faltering growth.
- Possible abuse (perianal bruising, fissures in unusual places).
- Other causes — hypothyroidism, coeliac disease, hypercalcaemia, CMPA (infants), drugs (opioids), Hirschsprung's, anal problems.
- Management (NICE CG99):
- Disimpaction (if faecal loading) — macrogol (polyethylene glycol, e.g. Movicol Paediatric Plain) in an escalating dose over up to 2 weeks until the impaction clears; add a stimulant (senna or sodium picosulfate) if not effective. Warn about increased soiling at first. Rectal treatments only if oral fails.
- Maintenance — macrogol (dose adjusted to produce soft stools) for several weeks after a regular pattern is established, then reduce gradually over months; add senna if needed.
- Behavioural — regular toilet sitting after meals (5 minutes), footstool, reward charts (for sitting, not for clean pants).
- Diet — adequate fluids and fibre (fruit, vegetables, wholegrain) — but don't rely on diet alone at first.
- Infants — extra water or fruit juice; lactulose if needed; macrogol from 1 year (off-label under).
- Review regularly; refer if no response after 3 months.
- Anal fissure — painful stools with streaks of bright red blood; treat constipation; topical anaesthetic or GTN in specialist care.
Hirschsprung's Disease
- What it is: Absence of nerve cells (ganglion cells) in a segment of the bowel wall — always starting at the rectum and extending upwards. The affected bowel can't relax, causing obstruction.
- Associations — boys; Down syndrome; family history; MEN2 (RET gene).
- Features:
- Newborn — delayed passage of meconium (over 48 hours), abdominal distension, bilious vomiting.
- Older children — chronic constipation from birth, distension, faltering growth.
- Rectal examination may release an explosive gush of stool and gas.
- Hirschsprung-associated enterocolitis — fever, distension, explosive foul diarrhoea, sepsis — can be fatal (IV antibiotics, rectal washouts).
- Diagnosis — rectal suction biopsy (absent ganglion cells, increased acetylcholinesterase-positive nerve fibres); contrast enema (transition zone).
- Treatment — rectal washouts initially; surgical pull-through (removing the aganglionic bowel); sometimes a temporary stoma.
Chronic Diarrhoea
- Toddler's diarrhoea — the commonest cause in 1–5 year olds: loose stools with undigested food (peas, carrots), often more in the day; the child is well and growing normally. Advice — normal fat and fibre, limit fruit juice and squash ("4 Fs": fat, fibre, fluid, fruit juice).
- Other causes:
- Coeliac disease.
- Cow's milk protein allergy (infants).
- Lactose intolerance (often secondary after gastroenteritis — temporary).
- Inflammatory bowel disease.
- Infection — Giardia, persistent bacterial infection.
- Cystic fibrosis (steatorrhoea).
- Overflow from constipation.
- Laxative misuse; hyperthyroidism; immunodeficiency.
- Red flags — faltering growth, blood in stools, abdominal pain waking the child, nocturnal diarrhoea, weight loss.
- Tests — growth, FBC, CRP, coeliac serology, stool microscopy and culture, faecal calprotectin, faecal elastase (pancreatic insufficiency), sweat test.
Coeliac Disease
- What it is: An autoimmune reaction to gluten (wheat, barley, rye) damaging the small bowel lining (villous atrophy). About 1 in 100 people; many undiagnosed.
- Features in children:
- Young children (after gluten is introduced) — diarrhoea, pale bulky smelly stools, distended abdomen, wasted buttocks, faltering growth, irritability.
- Older children — abdominal pain, constipation, tiredness, short stature, delayed puberty, iron deficiency anaemia, mouth ulcers, dermatitis herpetiformis (itchy blistering rash on elbows, knees, buttocks).
- Many have few symptoms.
- Who to test — symptoms above; type 1 diabetes; autoimmune thyroid disease; Down syndrome, Turner syndrome, Williams syndrome; first-degree relatives; IBS-type symptoms.
- Tests:
- tTG IgA (tissue transglutaminase) with total IgA (IgA deficiency gives false negatives — use IgG tests).
- The child must be eating gluten (in more than one meal a day for at least 6 weeks) before testing.
- No-biopsy route (ESPGHAN, for children) — tTG IgA 10 times or more the upper limit, with positive endomysial antibodies on a second sample. Otherwise duodenal biopsy.
- Management:
- Lifelong strict gluten-free diet (dietitian); oats are usually tolerated.
- Check iron, folate, vitamin D, calcium; growth and puberty monitoring.
- Yearly review; repeat tTG to check adherence.
- Untreated — poor growth, osteoporosis, anaemia, small increased risk of lymphoma.
Inflammatory Bowel Disease
- About a quarter of IBD starts in childhood; Crohn's disease is more common than ulcerative colitis in children.
- Crohn's disease:
- Abdominal pain, diarrhoea (may be no blood), weight loss, growth failure and delayed puberty (sometimes the only sign), tiredness, fever.
- Perianal disease (tags, fissures, fistulas, abscesses), mouth ulcers, lip swelling.
- Extra-intestinal — joint pains, erythema nodosum, uveitis.
- Ulcerative colitis — bloody diarrhoea, urgency, abdominal pain; often extensive (pancolitis) in children.
- Tests — FBC (anaemia, raised platelets), CRP, ESR, albumin, faecal calprotectin; stool cultures; endoscopy and colonoscopy with biopsies; MRI small bowel.
- Treatment (paediatric gastroenterology):
- Crohn's — exclusive enteral nutrition (liquid formula only for 6–8 weeks) is first-line induction (as effective as steroids, better for growth); steroids if not suitable; maintenance with azathioprine or methotrexate; anti-TNF (infliximab, adalimumab) for moderate to severe disease; surgery for complications.
- UC — aminosalicylates (mesalazine); steroids for flares; azathioprine; biologics; colectomy for severe disease.
- Acute severe colitis — IV steroids, rescue therapy (infliximab), surgery; watch for toxic megacolon.
- Growth, bone health, nutrition, psychological support, transition to adult services.
- See the Inflammatory Bowel Disease chapter.
Blood in the Stools
| Age | Causes |
|---|---|
| Newborn | Swallowed maternal blood (from birth or cracked nipples — Apt test); NEC; vitamin K deficiency bleeding; CMPA; malrotation with volvulus; anal fissure |
| Infant | Anal fissure (the commonest); CMPA (allergic colitis); intussusception; infectious colitis |
| Toddler and preschool | Anal fissure; infection; Meckel's diverticulum; intussusception; juvenile polyps; HSP; HUS |
| Older child | Infection (Campylobacter, Salmonella, Shigella, E. coli O157); IBD; polyps; fissure; haemorrhoids (rare); Meckel's |
- Meckel's diverticulum — a remnant of the vitelline duct in the small bowel; "rule of 2s" — about 2% of people, 2 feet from the ileocaecal valve, about 2 inches long, often presents under 2 years, may contain 2 types of tissue (gastric, pancreatic):
- Painless, heavy rectal bleeding (dark red or maroon) in a young child — from ulceration by acid-secreting gastric tissue.
- Also intussusception, obstruction, diverticulitis (mimics appendicitis).
- Technetium-99m pertechnetate scan ("Meckel's scan"); surgical removal.
- Juvenile polyps — painless bright red bleeding; usually single and benign; multiple polyps suggest a polyposis syndrome (Peutz–Jeghers — lip freckles; familial adenomatous polyposis).
- Upper GI bleeding — swallowed blood (nosebleed), Mallory–Weiss tear (after vomiting), oesophagitis, gastritis (NSAIDs), varices (portal hypertension — biliary atresia), foreign body (button battery).
Liver Problems in Children
- Neonatal jaundice and biliary atresia — see the Neonatology chapter.
- Viral hepatitis — hepatitis A (mild in children, often without jaundice), B and C (vertical transmission), EBV, CMV.
- Wilson's disease — consider in any child over 5 with unexplained liver disease (or neurological or psychiatric symptoms): low caeruloplasmin, high urine copper, Kayser–Fleischer rings; chelation (penicillamine, trientine), zinc.
- Autoimmune hepatitis — teenage girls; raised IgG, autoantibodies; steroids and azathioprine.
- Alpha-1 antitrypsin deficiency — neonatal cholestasis, later liver disease.
- Fatty liver (MASLD) — rising with childhood obesity.
- Paracetamol overdose — the commonest cause of acute liver failure in teenagers (often intentional); see the Paediatric Emergencies chapter.
- Gallstones — haemolytic disorders (sickle cell, hereditary spherocytosis), obesity, long-term TPN.
- Hepatoblastoma — liver tumour in young children (raised AFP).
- Signs of chronic liver disease — jaundice, itch, hepatosplenomegaly, ascites, faltering growth, easy bruising, spider naevi.
Hernias and Hydroceles
- Inguinal hernia:
- An indirect hernia — the processus vaginalis stays open, letting bowel (or an ovary in girls) into the groin or scrotum.
- More common in boys and preterm babies.
- A groin or scrotal swelling that comes and goes, more obvious when crying or straining; you can't "get above" it.
- High risk of incarceration (trapped bowel) in infants — irritability, vomiting, a tender, firm, irreducible lump: emergency (reduce if possible, then surgery).
- Refer for surgery promptly — urgently for infants (within days to weeks; within 2 weeks for babies under 6 weeks old); herniotomy.
- Umbilical hernia — very common in babies (especially Black and preterm babies); soft, reducible; rarely strangulates; most close by 3–5 years; surgery if still present at about 4–5 years or very large.
- Hydrocele — fluid around the testis:
- Painless, soft scrotal swelling that transilluminates; you can get above it; the testis is often hard to feel.
- Communicating (patent processus vaginalis) — size changes during the day.
- Most resolve by 1–2 years; surgery if persistent after 2 years.
- New hydrocele in an older boy — exclude underlying causes (torsion, tumour, infection) with ultrasound.
- Epigastric hernia — small midline lump above the umbilicus; surgery if symptomatic.
Undescended Testes
- Cryptorchidism — a testis not in the scrotum. About 3–5% of term boys (more in preterm); many descend by 3 months.
- Types:
- Retractile testis — can be brought down into the scrotum and stays there briefly (active cremaster reflex) — normal; review yearly (can "ascend").
- Undescended — palpable in the groin (most) or impalpable (in the abdomen, or absent).
- Ectopic — outside the normal path (perineum, femoral).
- Management:
- Bilateral undescended testes at birth — urgent senior review (within 24 hours) — exclude disorders of sex development (e.g. CAH in a virilised girl — salt-wasting risk).
- One undescended testis — review at 6–8 weeks; if still undescended at 3 months, refer to paediatric surgery.
- Orchidopexy — ideally at 6–12 months (and before 18 months).
- Impalpable testes — laparoscopy.
- Risks if untreated — reduced fertility, testicular cancer (risk higher even after surgery — teach self-examination), torsion, trauma, psychological effects, inguinal hernia.
The Acute Scrotum
| Cause | Features |
|---|---|
| Testicular torsion | Sudden severe testicular pain (may be lower abdominal pain only), nausea and vomiting; adolescents (and newborns); high-riding, horizontal testis; very tender; absent cremasteric reflex |
| Torsion of the testicular appendage (hydatid of Morgagni) | Ages 7–12; gradual pain at the top of the testis; tender nodule; "blue dot" sign; cremasteric reflex present — rest and analgesia (explore if in doubt) |
| Epididymo-orchitis | Gradual pain and swelling, fever, urinary symptoms; younger boys — UTI or urinary tract abnormality; teenagers — consider STIs; mumps orchitis (with parotitis) |
| Idiopathic scrotal oedema | Young boys; red, swollen scrotum, often both sides, extending to the groin and perineum; little pain; testes normal; settles in days |
| Incarcerated inguinal hernia | Irreducible groin and scrotal lump, vomiting |
| IgA vasculitis (HSP), trauma, tumour | Other features; tumours are usually painless |
- Testicular torsion is a surgical emergency:
- Immediate surgical exploration — the testis can usually be saved if untwisted within 6 hours.
- Don't delay for ultrasound if the diagnosis is likely.
- Fix both testes (bilateral orchidopexy); remove a dead testis.
- Analgesia; nil by mouth.
⚠️ Safety Pearl: Teenage boys with "abdominal pain" may be too embarrassed to mention testicular pain. Always examine the testes in a boy with lower abdominal pain or vomiting — torsion can cost a testis within hours.
Foreskin, Hypospadias and the Penis
- Physiological phimosis — the foreskin normally can't be pulled back in young boys (adhesions to the glans); most become retractable by 5–10 years (some later). Ballooning of the foreskin during urination is normal. Don't force it back.
- Balanitis — inflamed glans and foreskin: hygiene, warm baths, topical antifungal or antibiotics if infected; recurrent episodes may need circumcision.
- Pathological phimosis — scarred, white, tight foreskin (balanitis xerotica obliterans — lichen sclerosus); urinary obstruction. Topical steroids; circumcision.
- Paraphimosis — a retracted foreskin can't be pulled back, causing a painful swollen glans: emergency — analgesia, ice or compression, manual reduction; dorsal slit or circumcision if it fails.
- Hypospadias:
- The urethral opening is on the underside of the penis (anywhere from glans to perineum); hooded foreskin (incomplete on the underside); chordee (downward curve).
- About 1 in 300 boys; picked up at the newborn examination.
- Don't circumcise — the foreskin is used in the repair.
- Surgical repair at about 6–18 months.
- Severe hypospadias with undescended testes — consider a disorder of sex development (CAH, karyotype).
- Epispadias — opening on the upper side; linked to bladder exstrophy.
- Circumcision — medical indications: pathological phimosis, recurrent balanitis, recurrent UTIs with urinary tract abnormalities; also done for religious and cultural reasons (consent from those with parental responsibility).
- Labial adhesions (girls) — fused labia minora in young girls; usually harmless and resolve at puberty; topical oestrogen if causing urinary problems.
Drug Reference Table
| Drug | Key points |
|---|---|
| Alginate (Gaviscon Infant) | Trial for 1–2 weeks in breastfed babies with GORD. |
| Feed thickeners / anti-reflux formula | Formula-fed babies with GORD. |
| Omeprazole (or an H2 blocker such as famotidine) | 4-week trial for suspected oesophagitis with distress or faltering growth. |
| Macrogol (Movicol Paediatric Plain) | Constipation — escalating dose for disimpaction, then maintenance for months. |
| Senna / sodium picosulfate | Stimulant laxatives added if macrogol alone isn't enough. |
| Lactulose | Osmotic laxative (infants and if macrogol not tolerated). |
| IV 0.9% saline + glucose + potassium | Correct dehydration and alkalosis before pyloromyotomy. |
| Polymeric formula (exclusive enteral nutrition) | First-line induction for paediatric Crohn's disease (6–8 weeks). |
| Mesalazine | Ulcerative colitis. |
| Azathioprine | IBD maintenance; check TPMT; blood monitoring. |
| Infliximab / adalimumab | Moderate to severe IBD; TB screening first. |
| Morphine IV | Analgesia in suspected appendicitis — doesn't mask diagnosis. |
| Topical steroid (e.g. betamethasone) | Pathological phimosis (BXO). |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| Happy, thriving 3-month-old who brings up small amounts after feeds | Physiological reflux — reassure |
| 5-week-old first-born boy with projectile vomiting, hungry, olive mass | Pyloric stenosis |
| Hypochloraemic hypokalaemic metabolic alkalosis in a vomiting infant | Pyloric stenosis |
| Sudden green vomiting in a 2-week-old | Malrotation with volvulus — emergency |
| 9-month-old with screaming episodes, pallor, and redcurrant jelly stools | Intussusception |
| Target sign on abdominal ultrasound | Intussusception |
| Periumbilical pain moving to the right iliac fossa with anorexia | Appendicitis |
| High fever, sore throat and vague abdominal pain, enlarged nodes on ultrasound | Mesenteric adenitis |
| No meconium for 60 hours, distension, explosive stool on PR, Down syndrome | Hirschsprung's disease |
| Soiling with hard stools on abdominal palpation in a 6-year-old | Constipation with overflow |
| Thriving toddler with loose stools containing peas and carrots | Toddler's diarrhoea |
| Short 10-year-old with iron deficiency and abdominal pain, tTG 15 times normal | Coeliac disease |
| Teenager with weight loss, delayed puberty and a perianal fistula | Crohn's disease |
| Painless maroon rectal bleeding in a 2-year-old | Meckel's diverticulum |
| Streaks of bright red blood with painful hard stools in an infant | Anal fissure |
| Groin lump in a preterm boy when crying | Inguinal hernia — prompt surgery |
| Painless scrotal swelling that transilluminates in a 6-month-old | Hydrocele |
| Bilateral impalpable testes at birth | Urgent review — possible DSD/CAH |
| 14-year-old with sudden testicular pain, high-riding testis, no cremasteric reflex | Testicular torsion — explore now |
| Tender nodule at the top of the testis with a blue dot | Torsion of the testicular appendage |
| Urethral opening on the underside of the penis with a hooded foreskin | Hypospadias — don't circumcise |
Exam-style Scenarios
1. A 6-week-old boy has had projectile vomiting after every feed for 4 days and seems hungry afterwards. Gas: pH 7.52, chloride 88, potassium 2.9.
Answer: Pyloric stenosis with hypochloraemic hypokalaemic alkalosis.
- Stop feeds; IV fluids (0.9% saline with glucose and potassium) to correct electrolytes.
- Ultrasound to confirm.
- Pyloromyotomy once electrolytes are normal.
2. A 10-month-old has episodes of screaming and drawing up his legs every 15 minutes, with pallor and lethargy between. He has vomited twice and passed a bloody stool.
Answer: Intussusception.
- Resuscitation, IV access, NG tube.
- Urgent ultrasound; air enema reduction.
- Surgery if peritonitis or failed reduction.
3. A 7-year-old has opened her bowels twice a week for months with painful large stools and soiling. Abdomen shows a palpable faecal mass. No red flags.
Answer: Functional constipation with impaction and overflow.
- Disimpaction with escalating-dose macrogol over up to 2 weeks (add senna if needed); warn about more soiling at first.
- Maintenance macrogol for months; toilet routine after meals; rewards; fluids and fibre.
- Review regularly.
4. A 13-year-old boy woke at 5 am with severe left testicular pain and vomiting. The left testis lies high and horizontal and is very tender.
Answer: Testicular torsion.
- Analgesia; nil by mouth; immediate urology/paediatric surgical exploration (don't wait for a scan).
- Untwist and fix both testes; remove if non-viable.
5. A newborn boy has the urethral opening on the underside of the penis shaft and an incomplete foreskin. Both testes are in the scrotum.
Answer: Hypospadias.
- Refer to paediatric urology; advise no circumcision.
- Repair at about 6–18 months.
Key Points
- Bilious vomiting = malrotation with volvulus until proven otherwise — emergency surgical referral.
- Reflux in a thriving baby is normal and settles by 12 months; alginate or thickened feeds before acid suppression.
- Pyloric stenosis: 2–8 weeks, projectile non-bilious vomiting, hungry baby, alkalosis — correct fluids before pyloromyotomy.
- Intussusception: 6–18 months, colicky screaming, pallor, redcurrant jelly stool, target sign — air enema.
- Appendicitis in young children is atypical and often perforated; give analgesia.
- Check glucose, urine and testes in children with abdominal pain.
- Functional constipation: macrogol disimpaction then months of maintenance; red flags include onset from birth and delayed meconium.
- Hirschsprung's: delayed meconium, distension, Down syndrome — rectal biopsy; beware enterocolitis.
- Coeliac: test while eating gluten; tTG IgA with total IgA; no-biopsy route if tTG 10 times normal and EMA positive.
- Paediatric Crohn's: growth failure and delayed puberty; exclusive enteral nutrition first line.
- Meckel's: painless heavy rectal bleeding in young children — technetium scan.
- Inguinal hernias need prompt surgery (incarceration risk); umbilical hernias and hydroceles usually resolve.
- Undescended testis: refer at 3 months; orchidopexy at 6–12 months; bilateral impalpable at birth — urgent (CAH/DSD).
- Torsion: explore within 6 hours; fix both sides.
- Hypospadias: no circumcision; repair at 6–18 months.
Guidelines and Further Reading
- NICE NG1: Gastro-oesophageal reflux disease in children and young people
- NICE CG99: Constipation in children and young people
- NICE NG20: Coeliac disease; ESPGHAN guidelines for diagnosing coeliac disease
- BSPGHAN / ECCO-ESPGHAN: Paediatric IBD guidelines
- British Association of Paediatric Surgeons and BAUS: guidance on undescended testes and the acute scrotum
- NICE Clinical Knowledge Summaries: Inguinal hernia; Undescended testes; Scrotal pain and swelling
- BNF for Children — for current doses
6. Renal and Endocrine Disease
🧪 Kidneys, urinary tract and hormones in children — UTIs are common and easily missed in babies (who have no specific symptoms), and repeated infections can scar the kidneys. Type 1 diabetes is often diagnosed late — around a quarter of children present in DKA, which kills through cerebral oedema. Think "4 Ts": Toilet, Thirsty, Tired, Thinner — and check a finger-prick glucose the same day.
Your four questions for every child: Could this be a UTI (test the urine in any unwell child without a clear cause)? Could this be diabetes (check glucose and ketones)? Is the child growing and developing normally? Is there a risk of adrenal crisis (CAH, steroids)?
Urinary Tract Infection
- Features by age:
- Babies under 3 months — fever, vomiting, lethargy, irritability, poor feeding, faltering growth, jaundice, sepsis.
- Toddlers — fever, vomiting, abdominal pain, poor feeding, smelly urine.
- Older children — frequency, dysuria, wetting, abdominal or loin pain, fever.
- Who to test — any infant or child with symptoms suggesting UTI, unexplained fever of 38 °C or more (test within 24 hours), or an alternative infection not responding.
- Collecting urine — clean-catch sample is best; urine collection pads if not possible; catheter or suprapubic aspiration if needed (unwell infants).
- Testing (NICE NG224):
- Under 3 months — refer immediately to paediatrics; urgent microscopy and culture; IV antibiotics.
- 3 months to 3 years — urgent microscopy and culture (dipstick less reliable); treat if microscopy positive for bacteria (or clinically likely).
- 3 years and over — dipstick:
- Nitrite positive (with or without leucocytes) — treat; send culture.
- Leucocytes only — send culture; treat if there's clinical evidence of UTI.
- Both negative — UTI unlikely.
- Upper UTI (pyelonephritis) — fever of 38 °C or more with bacteriuria, or loin pain or tenderness. Higher risk of kidney scarring.
- Treatment (NICE NG224):
- Lower UTI (over 3 months) — oral trimethoprim or nitrofurantoin for 3 days (or per sensitivities); amoxicillin if known sensitive.
- Upper UTI — oral cefalexin or co-amoxiclav for 7–10 days; IV (e.g. co-amoxiclav, cefuroxime, ceftriaxone or gentamicin) if severe, under 3 months, or unable to take oral.
- Review if no improvement within 48 hours.
- Fluids; paracetamol or ibuprofen; treat constipation (common contributor).
- Prevention — good fluid intake, regular voiding, treat constipation, avoid bubble baths; antibiotic prophylaxis only in selected children with recurrent UTIs (specialist).
Imaging After a UTI
- Atypical UTI — seriously ill or septicaemic, poor urine flow, abdominal or bladder mass, raised creatinine, no response to antibiotics within 48 hours, infection with a non-E. coli organism.
- Recurrent UTI — two or more upper UTIs; or one upper and one or more lower; or three or more lower UTIs.
| Age | Imaging (NICE CG54) |
|---|---|
| Under 6 months | Responds within 48 hours — ultrasound within 6 weeks. Atypical — ultrasound during the infection, DMSA scan at 4–6 months, and MCUG. Recurrent — ultrasound within 6 weeks, DMSA and MCUG. |
| 6 months to 3 years | Responds — no routine imaging. Atypical — ultrasound during the infection and DMSA. Recurrent — ultrasound within 6 weeks and DMSA. (MCUG only in some — e.g. dilatation, poor flow, family history of VUR.) |
| 3 years and over | Responds — no routine imaging. Atypical — ultrasound during the infection. Recurrent — ultrasound within 6 weeks and DMSA. |
- Ultrasound — kidney size, hydronephrosis, bladder.
- DMSA scan — shows renal scarring (done 4–6 months after infection).
- MCUG (micturating cystourethrogram) — shows vesicoureteric reflux and posterior urethral valves (needs a catheter; antibiotic cover).
Vesicoureteric Reflux and Congenital Anomalies
- Vesicoureteric reflux (VUR) — urine flows back up from the bladder into the ureters and kidneys:
- Graded I (into the ureter only) to V (gross dilatation).
- Runs in families; often found after a UTI or antenatal hydronephrosis.
- With infection, can cause renal scarring (reflux nephropathy) — hypertension and CKD later.
- Management — most mild reflux resolves with growth; prompt treatment of UTIs; antibiotic prophylaxis in selected children; surgery (endoscopic injection or reimplantation) for severe reflux with breakthrough infections.
- Antenatal hydronephrosis — common finding on scans; most mild and resolve. Postnatal ultrasound; consider antibiotic prophylaxis for significant dilatation.
- Posterior urethral valves — the commonest cause of urinary obstruction in boys:
- Antenatal — bilateral hydronephrosis, thick-walled bladder, oligohydramnios (pulmonary hypoplasia in severe cases).
- After birth — poor urine stream, palpable bladder, UTI, AKI.
- Urgent catheter; endoscopic valve ablation; long-term kidney follow-up (CKD risk).
- Pelviureteric junction obstruction — hydronephrosis without ureteric dilatation; MAG3 renogram; pyeloplasty if function is falling.
- Multicystic dysplastic kidney — a non-functioning kidney of cysts; usually shrinks; check the other kidney.
- Other — duplex kidneys, horseshoe kidney (Turner syndrome), renal agenesis, polycystic kidney disease (ARPKD, ADPKD), bladder exstrophy.
Nephrotic Syndrome
- Definition — heavy proteinuria (urine protein:creatinine ratio over 200 mg/mmol, or 3+ on dipstick), low albumin (under 25 g/L) and oedema.
- Who — mostly children aged 2–5; boys more than girls; more common in South Asian children.
- Cause — about 90% of children have minimal change disease, which is usually steroid-sensitive.
- Features:
- Periorbital swelling (often first, worse in the mornings — mistaken for allergy).
- Swollen legs, scrotum or labia; ascites; pleural effusions.
- Frothy urine.
- Weight gain; reduced urine output; abdominal pain.
- Tests — urine dipstick and PCR; albumin; U&E; FBC; lipids (raised); complement; varicella serology; BP; hepatitis B and C, HIV in some.
- Treatment (steroid-sensitive nephrotic syndrome):
- Oral prednisolone 60 mg/m² daily (maximum 60 mg) for 4 weeks, then 40 mg/m² on alternate days (maximum 40 mg) for 4 weeks, then stop.
- Most respond (protein-free urine) within 2 weeks.
- Salt restriction; fluid restriction only if severe oedema; diuretics with care (risk of hypovolaemia).
- Penicillin V prophylaxis while nephrotic (pneumococcal infection risk).
- Pneumococcal vaccine; check varicella immunity (chickenpox can be severe on steroids).
- Monitor urine at home with dipsticks to detect relapses.
- Complications:
- Infection — spontaneous bacterial peritonitis (pneumococcus), cellulitis, sepsis (loss of immunoglobulins, steroids).
- Hypovolaemia — despite oedema: abdominal pain, cold peripheries, tachycardia, raised haematocrit — albumin infusion.
- Thrombosis — loss of anticoagulant proteins (renal vein, cerebral venous sinus, DVT).
- High cholesterol; AKI; steroid side effects (behaviour, weight, BP, growth).
- Relapses are common (about 80%) — repeat steroid course. Frequent relapses or steroid dependence — steroid-sparing drugs (levamisole, mycophenolate, tacrolimus, cyclophosphamide, rituximab).
- Refer for biopsy (atypical) if — under 1 or over 12, steroid-resistant (no response after 4 weeks), haematuria, hypertension, low complement, raised creatinine — consider FSGS, membranous, MPGN, lupus.
- Congenital nephrotic syndrome (under 3 months) — genetic (e.g. Finnish type).
Nephritis and Haematuria
- Nephritic syndrome — haematuria (often cola-coloured), proteinuria, hypertension, oedema, reduced urine output and rising creatinine.
- Causes in children:
- Post-streptococcal glomerulonephritis — 1–3 weeks after a sore throat (or 3–6 weeks after impetigo); low C3, raised ASOT; supportive care (fluid and salt restriction, diuretics, BP control); good prognosis.
- IgA vasculitis (HSP) nephritis — after the rash; monitor BP and urine for 6 months.
- IgA nephropathy — visible haematuria 1–2 days after a sore throat.
- Lupus nephritis; ANCA vasculitis; HUS; Alport syndrome.
- Haematuria — other causes — UTI, trauma, stones (hypercalciuria), sickle cell, coagulopathy, Wilms tumour, exercise, thin basement membrane disease; red urine without blood — beetroot, rifampicin, myoglobin.
- Refer — haematuria with proteinuria, hypertension, raised creatinine, or persistent invisible haematuria.
- See the Glomerular Disease chapter.
Haemolytic Uraemic Syndrome
- What it is: A thrombotic microangiopathy — triad of microangiopathic haemolytic anaemia, low platelets and AKI.
- Cause — usually Shiga toxin-producing E. coli (STEC, O157) — from undercooked beef, petting farms, contaminated food; mostly children under 5. Rarely pneumococcal or atypical (complement) HUS.
- Features:
- Bloody diarrhoea and abdominal pain, then 5–10 days later:
- Pallor, tiredness, irritability.
- Reduced urine output, oedema, hypertension.
- Bruising, petechiae.
- Seizures, confusion, stroke (CNS involvement).
- Tests — FBC (anaemia, low platelets), blood film (schistocytes), raised LDH, low haptoglobin, negative DAT, U&E (AKI), stool culture and STEC PCR.
- Management:
- Supportive — careful fluid balance, electrolytes, BP control, blood transfusion (avoid platelets unless bleeding).
- Dialysis in about half.
- Avoid antibiotics and antimotility drugs in STEC diarrhoea (may increase toxin release).
- Eculizumab for atypical HUS.
- Notify UKHSA; exclude from nursery until two negative stools.
- Outcome — most recover; some develop CKD and hypertension (follow-up).
AKI and CKD in Children
- AKI causes — dehydration (gastroenteritis), sepsis, HUS, nephrotoxic drugs (NSAIDs, aminoglycosides), glomerulonephritis, obstruction (posterior urethral valves), after cardiac surgery.
- AKI management — restore fluid status, stop nephrotoxins, treat hyperkalaemia, dialysis if needed (see the AKI chapter — doses by weight).
- CKD causes in children — congenital anomalies of the kidney and urinary tract (CAKUT) — the commonest (dysplasia, obstruction, reflux nephropathy); glomerular disease (FSGS); inherited (polycystic kidneys, cystinosis, nephronophthisis, Alport).
- CKD effects in children — poor growth (growth hormone may help), anaemia, renal bone disease (rickets), hypertension, developmental and school problems, acidosis; transplant is the best treatment for kidney failure.
- Hypertension in children — usually secondary in young children (renal parenchymal disease, renal artery stenosis, coarctation, endocrine); measure with the right cuff size and use centile charts.
Bedwetting and Daytime Wetting
- Nocturnal enuresis (bedwetting) — common: about 1 in 6 five-year-olds, 1 in 20 ten-year-olds. Usually not treated under 5. More common in boys; strong family history.
- Primary (never been dry for 6 months) — usually from a combination of large night-time urine volumes, small bladder capacity, and not waking to the sensation of a full bladder.
- Secondary (wetting after 6 months of dryness) — look for a cause:
- UTI; constipation (very common).
- Diabetes mellitus (check urine glucose); diabetes insipidus.
- Emotional stress — new sibling, school, family breakdown; abuse.
- Obstructive sleep apnoea; neurological problems (spinal).
- Assessment (NICE CG111) — pattern, daytime symptoms, fluid intake, toileting, bowel habit, emotional factors; urine dipstick (glucose, infection); examine the spine, genitalia and abdomen; bladder diary.
- Management:
- Reassure — common and not the child's fault; avoid punishment.
- Fluids — adequate during the day (6–8 drinks), avoid caffeine and fizzy drinks, reduce drinks in the hour before bed.
- Toilet regularly in the day and just before bed; easy access at night.
- Reward systems for agreed behaviours (drinking well, using the toilet before bed) — not for dry nights.
- Treat constipation.
- Enuresis alarm — first-line treatment for motivated children and families (from about 5–7) — works within 4 weeks; continue until 2 weeks of dry nights.
- Desmopressin — if an alarm is unsuitable or hasn't worked, or for short-term control (sleepovers, school trips) in children over 5. Restrict fluids from 1 hour before to 8 hours after the dose (risk of hyponatraemia).
- Combination or anticholinergics (oxybutynin) in specialist care.
- Daytime wetting — overactive bladder (urgency, holding manoeuvres), voiding postponement, constipation, UTI, giggle incontinence; constant wetting in a girl with normal voiding suggests an ectopic ureter. Refer if persistent.
Type 1 Diabetes in Children
- The commonest form of diabetes in children in the UK; autoimmune destruction of insulin-producing beta cells. Peak onset at 5–7 years and around puberty.
- Symptoms — the "4 Ts":
- Toilet — passing lots of urine, new bedwetting, heavy nappies.
- Thirsty.
- Tired.
- Thinner — weight loss.
- Also — recurrent infections (thrush), blurred vision, behaviour change.
- DKA features — vomiting, abdominal pain, deep sighing breathing (Kussmaul), ketotic breath, dehydration, drowsiness.
- Diagnosis — a child with symptoms and a random glucose over 11 mmol/L. Check a finger-prick glucose the same day and refer the same day to the paediatric diabetes team (don't wait for a fasting test or HbA1c).
- Tests — glucose, blood ketones, venous gas, U&E, HbA1c; autoantibodies (GAD, IA-2, ZnT8); coeliac serology and TFTs (associated autoimmune diseases).
- Treatment (NICE NG18):
- Insulin — multiple daily injections (basal–bolus: long-acting once daily plus rapid-acting with meals) or an insulin pump.
- Hybrid closed-loop systems (pump plus continuous glucose monitor with an algorithm) — recommended by NICE for children and young people with type 1 diabetes.
- Continuous glucose monitoring (CGM) for all.
- Carbohydrate counting to match insulin to meals.
- HbA1c target 48 mmol/mol or lower (as long as it doesn't cause problematic hypoglycaemia); time in range on CGM.
- Education — child, family and school; multidisciplinary team (nurse, dietitian, psychologist).
⚠️ Safety Pearl: A child who is drinking more, wetting the bed again, and losing weight needs a finger-prick glucose today. Delayed diagnosis leads to DKA — refer the same day, don't send for a fasting test.
Living With Type 1 Diabetes
- Hypoglycaemia (glucose under 4 mmol/L):
- Symptoms — shaky, sweaty, pale, hungry, irritable, poor concentration, behaviour change; then confusion, seizures, unconsciousness.
- Mild — fast-acting glucose (e.g. 0.3 g/kg — glucose tablets, juice), recheck in 15 minutes, then a longer-acting snack.
- Severe (can't swallow safely) — glucagon IM or SC (or nasal glucagon); in hospital — IV 10% glucose 2 mL/kg.
- Sick day rules — never stop insulin; check glucose and blood ketones more often; extra rapid-acting insulin if ketones raised; fluids; seek help if vomiting or ketones over 3 mmol/L.
- Exercise — check glucose before, during and after; extra carbohydrate or reduced insulin; delayed hypoglycaemia overnight.
- School — individual healthcare plan; trained staff; access to snacks, glucose testing and insulin.
- Annual screening — thyroid function, coeliac serology, retinopathy (from 12), urine ACR (from 12), BP, growth and puberty, foot and injection site checks.
- Adolescence — insulin resistance in puberty, risk-taking, alcohol (delayed hypoglycaemia), eating disorders (insulin omission for weight loss), mental health, driving rules; transition to adult services.
- Psychological support — depression, anxiety and "diabetes distress" are common.
Diabetic Ketoacidosis in Children
- Diagnosis (BSPED) — acidosis (venous pH under 7.3 or bicarbonate under 15 mmol/L) plus ketonaemia (blood ketones over 3 mmol/L) or ketonuria, in a child with diabetes (glucose usually over 11).
- Severity — mild (pH 7.2–7.29), moderate (7.1–7.19), severe (under 7.1).
- Management (follow the BSPED DKA guideline and calculator):
- ABC; senior help; weigh the child.
- Shocked (poor perfusion, low BP) — 10 mL/kg 0.9% saline bolus over 15 minutes, repeated if needed (up to 40 mL/kg) — discuss with PICU.
- Not shocked — a 10 mL/kg bolus over 60 minutes may be given; then calculate fluids:
- Deficit — 5% of body weight (pH 7.1 or above) or 10% (pH under 7.1), replaced slowly over 48 hours, plus maintenance.
- Fluid — 0.9% sodium chloride with potassium chloride 40 mmol/L (unless anuric or high potassium); add glucose (5–10%) when glucose falls below 14 mmol/L.
- Insulin — IV infusion of soluble insulin at 0.05–0.1 units/kg/hour, started 1–2 hours after IV fluids begin. No insulin bolus. Continue long-acting insulin if already on it.
- Monitoring — hourly glucose, observations, neurological state and fluid balance; blood ketones and gas 1–2 hourly; U&E and potassium regularly; ECG monitoring.
- Avoid bicarbonate (except in specific cardiac arrest situations).
- Look for and treat the trigger (missed insulin, infection).
- Switch to subcutaneous insulin when ketones under 1 mmol/L, pH normal, and eating and drinking.
- Cerebral oedema — the main cause of death in childhood DKA (higher risk in young children, new diagnosis, severe acidosis, low CO2, rapid fluid or insulin, a falling sodium):
- Warning signs — headache, irritability, confusion, slowing heart rate, rising BP, falling GCS, abnormal breathing, incontinence, pupil changes.
- Treat immediately — hypertonic saline (2.7% or 3%, 2.5–5 mL/kg) or mannitol (0.5–1 g/kg) over 15 minutes; reduce fluids; raise the head of the bed; PICU; CT after treatment.
- Other complications — hypokalaemia, hypoglycaemia, aspiration, VTE (especially with central lines).
💡 Clinical Pearl: Children with DKA are dehydrated, but rehydration is slow (over 48 hours) and insulin is started 1–2 hours after fluids — both to reduce the risk of cerebral oedema. Headache or a slowing pulse during treatment is cerebral oedema until proven otherwise.
Hypoglycaemia in Children
- In children without diabetes, low glucose (under 3.0 mmol/L) needs investigation.
- Causes:
- Ketotic hypoglycaemia — the commonest: thin young children (18 months to 5 years) after a period of fasting or illness; ketones high; resolves with age. Avoid long fasts; bedtime snacks.
- Adrenal insufficiency (CAH, Addison's, steroid withdrawal); growth hormone deficiency; hypopituitarism.
- Metabolic disorders — MCADD (fatty acid oxidation — low ketones; screened at birth), glycogen storage diseases (large liver), galactosaemia.
- Hyperinsulinism — congenital, insulinoma, factitious (insulin given by a carer — low C-peptide).
- Poisoning — alcohol, beta-blockers, sulfonylureas, salicylates.
- Sepsis; liver failure; malnutrition.
- Hypo screen — take blood during the hypoglycaemia (before treatment if possible): glucose, ketones, insulin, C-peptide, cortisol, growth hormone, lactate, ammonia, free fatty acids, acylcarnitines, plus the first urine (organic acids, ketones, toxicology).
- Treatment — oral glucose if alert; IV 10% glucose 2 mL/kg then an infusion if not; glucagon IM (not in adrenal insufficiency or fatty acid oxidation disorders where it may not work); hydrocortisone if adrenal insufficiency suspected.
Type 2 and Other Diabetes
- Type 2 diabetes — increasing with childhood obesity; more common in South Asian and Black children, girls, family history; acanthosis nigricans; PCOS. Treatment — lifestyle, metformin, then insulin or GLP-1 agonists; screen for complications at diagnosis (higher early complication rates than type 1).
- MODY (maturity-onset diabetes of the young) — autosomal dominant, strong family history, onset under 25, non-obese, no autoantibodies, low insulin needs; HNF1A MODY responds to sulfonylureas; GCK MODY (mild stable hyperglycaemia) needs no treatment.
- Neonatal diabetes (under 6 months) — genetic (e.g. KCNJ11 — treat with sulfonylureas); always test genetics.
- Cystic fibrosis-related diabetes; steroid-induced diabetes; diabetes after pancreatitis.
Thyroid Disorders
- Congenital hypothyroidism:
- About 1 in 2,500 babies; usually thyroid dysgenesis (absent, small or ectopic gland) or dyshormonogenesis.
- Detected by newborn blood spot screening (raised TSH).
- Untreated — prolonged jaundice, poor feeding, constipation, large tongue, umbilical hernia, hoarse cry, dry skin, hypotonia, delayed development and learning disability.
- Start levothyroxine within the first 2 weeks — normal development if treated early.
- Acquired hypothyroidism — usually autoimmune (Hashimoto's); more common in girls, Down syndrome, Turner syndrome, type 1 diabetes: slowing growth (with weight gain), tiredness, constipation, declining school performance, goitre, delayed (or sometimes early) puberty. Levothyroxine.
- Hyperthyroidism — usually Graves' disease in teenagers: weight loss, tremor, anxiety, poor sleep, heat intolerance, tall stature, goitre, eye signs, falling school performance. Carbimazole (block-and-replace), beta-blocker; radioiodine or surgery later.
- Neonatal thyrotoxicosis — from maternal TSH-receptor antibodies (Graves'): irritability, tachycardia, poor weight gain; temporary.
Congenital Adrenal Hyperplasia
- What it is: An autosomal recessive enzyme deficiency in cortisol production — over 90% 21-hydroxylase deficiency. Low cortisol (and often low aldosterone) drives high ACTH, so the adrenals overproduce androgens.
- Presentation:
- Girls — ambiguous (virilised) genitalia at birth (enlarged clitoris, fused labia) with a normal womb and ovaries (46,XX).
- Boys — normal genitalia, so often missed until a salt-wasting crisis at 1–3 weeks: vomiting, poor feeding, weight loss, dehydration, collapse.
- Salt-wasting crisis bloods — low sodium, high potassium, low glucose, metabolic acidosis.
- Non-salt-wasting (simple virilising) — early pubic hair, rapid growth, advanced bone age, enlarged penis or clitoris in childhood.
- Non-classical CAH — later presentation: early pubarche, hirsutism, irregular periods (mimics PCOS).
- Diagnosis — raised 17-hydroxyprogesterone; electrolytes; karyotype; pelvic ultrasound.
- Treatment:
- Hydrocortisone (glucocorticoid replacement, and suppression of ACTH and androgens).
- Fludrocortisone (mineralocorticoid) and salt supplements in infancy (salt-wasting).
- Salt-wasting crisis — IV fluids (0.9% saline with glucose), IV or IM hydrocortisone, treat hyperkalaemia and hypoglycaemia.
- Sick day rules — double or triple hydrocortisone during illness; emergency IM hydrocortisone injection kit; steroid emergency card.
- Monitor growth, bone age, 17-OHP and androgens.
- Multidisciplinary care for genitalia (surgery decisions are complex).
Adrenal Insufficiency
- Causes in children:
- CAH (the commonest primary cause).
- Long-term steroids (including high-dose inhaled steroids) — suppression of the adrenals; risk on sudden stopping or during illness.
- Autoimmune Addison's disease (with other autoimmune conditions), adrenoleukodystrophy (boys — with neurological decline), adrenal haemorrhage (meningococcal sepsis — Waterhouse–Friderichsen).
- Hypopituitarism (craniopharyngioma, after brain tumour treatment).
- Features — tiredness, poor weight gain, vomiting, abdominal pain, hypoglycaemia, low BP; hyperpigmentation (primary); adrenal crisis with illness (shock, low sodium, high potassium, low glucose).
- Emergency treatment — IM or IV hydrocortisone — under 1 year 25 mg, 1–5 years 50 mg, 6 years and over 100 mg; IV fluids and glucose.
- Sick day rules — double or triple the usual hydrocortisone during fever or illness; IM injection if vomiting; steroid emergency card; extra cover for surgery.
Disorders of Sex Development
- What they are: Conditions where chromosomal, gonadal or anatomical sex is atypical — e.g. ambiguous genitalia at birth.
- Causes:
- 46,XX — CAH (the commonest cause of ambiguous genitalia), maternal androgens.
- 46,XY — androgen insensitivity syndrome (complete — female appearance; partial — ambiguous), 5-alpha reductase deficiency, testicular dysgenesis.
- Sex chromosome DSD — Turner (45,X), Klinefelter (47,XXY), 45,X/46,XY mosaicism.
- Signs at the newborn examination — ambiguous genitalia, bilateral impalpable testes, severe hypospadias with undescended testes, clitoral enlargement, labial fusion.
- Management:
- Urgent specialist assessment — a medical priority (exclude salt-wasting CAH — check electrolytes and glucose).
- Don't guess the baby's sex; explain that tests are needed; support parents (birth registration can be delayed).
- Tests — karyotype (rapid), 17-OHP, electrolytes, hormones, pelvic ultrasound.
- Multidisciplinary team (endocrinology, urology, genetics, psychology).
Thirst and Passing Lots of Urine
- Causes:
- Diabetes mellitus — always check glucose first.
- Habitual (psychogenic) polydipsia — toddlers who drink lots of juice or water; concentrate urine overnight.
- Diabetes insipidus:
- Cranial — brain tumours (craniopharyngioma, germinoma), Langerhans cell histiocytosis, head injury, after neurosurgery.
- Nephrogenic — genetic (X-linked, boys), lithium, hypercalcaemia, hypokalaemia.
- CKD (poor concentrating ability); renal tubular disorders (Fanconi, Bartter).
- Hypercalcaemia; hypokalaemia.
- UTI (frequency rather than polyuria).
- Tests — glucose, U&E, calcium, plasma and urine osmolality (early-morning sample); water deprivation test (specialist); MRI pituitary if cranial DI.
Calcium Problems
- Hypocalcaemia:
- Neonates — prematurity, infant of a diabetic mother, maternal vitamin D deficiency, DiGeorge syndrome (22q11 — with heart defects, cleft palate, immune problems).
- Older children — vitamin D deficiency (rickets), hypoparathyroidism, CKD, pseudohypoparathyroidism (short fourth metacarpals).
- Features — jitteriness, tetany, carpopedal spasm, seizures, laryngospasm, long QT.
- Treatment — IV calcium gluconate (slowly, with ECG monitoring) for symptoms; oral calcium and vitamin D (or alfacalcidol).
- Hypercalcaemia — rare: Williams syndrome (infants), immobilisation, malignancy, vitamin D excess, hyperparathyroidism; vomiting, constipation, polyuria.
- Rickets — see the Growth, Development and Nutrition chapter.
Drug Reference Table
| Drug | Key points |
|---|---|
| Trimethoprim / nitrofurantoin | Lower UTI over 3 months — 3 days. |
| Cefalexin / co-amoxiclav | Upper UTI — 7–10 days oral; IV options if severe. |
| Prednisolone 60 mg/m² then 40 mg/m² alternate days | Steroid-sensitive nephrotic syndrome — 4 weeks each; relapses common. |
| Penicillin V | Prophylaxis while nephrotic (pneumococcus). |
| Desmopressin | Nocturnal enuresis (short term or if alarm unsuitable) — fluid restriction for hyponatraemia; cranial DI. |
| Basal–bolus insulin / insulin pump | Type 1 diabetes; hybrid closed-loop systems for children and young people. |
| Glucagon IM/SC or nasal | Severe hypoglycaemia in type 1 diabetes. |
| Glucose 10% IV 2 mL/kg | Hypoglycaemia in hospital. |
| Soluble insulin infusion 0.05–0.1 units/kg/hour | DKA — start 1–2 hours after fluids; no bolus. |
| 0.9% sodium chloride + KCl 40 mmol/L | DKA rehydration over 48 hours. |
| Hypertonic saline 2.7–3% / mannitol | Cerebral oedema in DKA. |
| Metformin | Type 2 diabetes in children. |
| Levothyroxine | Congenital (start within 2 weeks) and acquired hypothyroidism. |
| Carbimazole | Graves' disease; agranulocytosis — sore throat warning. |
| Hydrocortisone (oral / IM / IV) | CAH and adrenal insufficiency; emergency doses 25 mg (under 1), 50 mg (1–5), 100 mg (6+). |
| Fludrocortisone + sodium chloride | Salt-wasting CAH. |
| Eculizumab | Atypical HUS. |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| Feverish 8-week-old with no focus and a positive urine culture | UTI — needs IV antibiotics and ultrasound |
| Fever, loin pain and nitrites in a 6-year-old | Pyelonephritis |
| Newborn boy with a poor stream, palpable bladder and bilateral hydronephrosis | Posterior urethral valves |
| Scarring on DMSA after recurrent UTIs | Reflux nephropathy |
| 3-year-old with puffy eyes, frothy urine, albumin 16, normal BP | Nephrotic syndrome (minimal change) |
| Nephrotic child with fever and abdominal pain | Spontaneous bacterial peritonitis |
| Cola urine and high BP 2 weeks after tonsillitis | Post-streptococcal glomerulonephritis |
| Pallor, low platelets and AKI a week after bloody diarrhoea | HUS |
| 7-year-old who has never been dry at night, otherwise well | Primary nocturnal enuresis — alarm |
| Bedwetting again after a year dry, with thirst and weight loss | Type 1 diabetes |
| Girl constantly damp despite normal voiding | Ectopic ureter |
| Vomiting, deep breathing, glucose 28, pH 7.08, ketones 5 | Severe DKA |
| Headache and falling heart rate 6 hours into DKA treatment | Cerebral oedema — hypertonic saline or mannitol |
| Thin toddler with low glucose and high ketones after missing breakfast | Ketotic hypoglycaemia |
| Hypoglycaemia with low ketones after a long fast | Fatty acid oxidation disorder (MCADD) or hyperinsulinism |
| 2-week-old boy vomiting with sodium 124, potassium 7.2 | Salt-wasting CAH |
| Virilised genitalia in a 46,XX baby with high 17-OHP | CAH |
| Teenager with slowing growth, weight gain and falling school grades | Acquired hypothyroidism |
| Polyuria and visual field loss with calcification on scan | Craniopharyngioma with cranial DI |
| Neonatal seizures, low calcium, cleft palate and a heart defect | DiGeorge syndrome (22q11) |
Exam-style Scenarios
1. A 4-month-old has a fever of 39 °C for 2 days with no focus. A catheter urine shows many white cells and Gram-negative rods. She responds to IV antibiotics within 24 hours.
Answer: Upper UTI in an infant under 6 months, responding well.
- Complete 7–10 days (switch to oral when well).
- Renal ultrasound within 6 weeks.
- If atypical or recurrent — ultrasound during illness, DMSA and MCUG.
2. A 4-year-old has had puffy eyes for a week and swollen legs. Urine protein 4+, albumin 14 g/L, BP normal, no haematuria.
Answer: Nephrotic syndrome, probably minimal change disease.
- Prednisolone 60 mg/m² for 4 weeks, then 40 mg/m² on alternate days for 4 weeks.
- Penicillin V prophylaxis; salt restriction; check varicella immunity; pneumococcal vaccine.
- Watch for hypovolaemia, infection and thrombosis; home urine dipsticks for relapse.
3. A 9-year-old has been drinking a lot and wetting the bed for 3 weeks, and has lost 3 kg. Finger-prick glucose 21 mmol/L; blood ketones 1.2.
Answer: New type 1 diabetes without DKA.
- Same-day referral to the paediatric diabetes team.
- Start subcutaneous insulin; education; CGM.
- Coeliac serology and TFTs.
4. A 6-year-old with new diabetes is in DKA (pH 7.05, bicarbonate 6, ketones 6). She weighs 20 kg and is not shocked.
Answer: Severe DKA.
- Fluids: 10% deficit (2 L) over 48 hours plus maintenance, with potassium 40 mmol/L (BSPED calculator); possible initial 10 mL/kg bolus over 60 minutes.
- Insulin infusion 0.05–0.1 units/kg/hour started 1–2 hours after fluids; no bolus; no bicarbonate.
- Hourly neurological observations; act immediately on headache or bradycardia (cerebral oedema).
5. A 12-day-old boy has vomited for 2 days and is lethargic. Sodium 122, potassium 7.4, glucose 2.3. His genitals look normal.
Answer: Salt-wasting congenital adrenal hyperplasia (adrenal crisis).
- IV fluids (0.9% saline with glucose); treat hypoglycaemia; IV hydrocortisone 25 mg.
- Bloods for 17-OHP, cortisol and renin before treatment if possible; ECG and treat hyperkalaemia.
- Long term: hydrocortisone, fludrocortisone, salt; sick day rules and emergency kit.
Key Points
- Test the urine in any unexplained fever; under 3 months — refer immediately.
- Under 3 years — microscopy and culture; 3 and over — dipstick (nitrites are most useful).
- Lower UTI: 3 days of trimethoprim or nitrofurantoin; upper UTI: 7–10 days of cefalexin or co-amoxiclav.
- Imaging after UTI depends on age, atypical features and recurrence (ultrasound, DMSA, MCUG).
- Posterior urethral valves: boys with poor stream and bilateral hydronephrosis — catheterise.
- Nephrotic syndrome in children is usually minimal change and steroid-sensitive; watch for infection, hypovolaemia and clots.
- HUS: bloody diarrhoea then anaemia, low platelets and AKI — supportive care, no antibiotics.
- Enuresis: look for causes if secondary; alarm first line; desmopressin with fluid restriction.
- 4 Ts (Toilet, Thirsty, Tired, Thinner): same-day finger-prick glucose and same-day referral.
- Type 1 diabetes: basal–bolus or pump, CGM, hybrid closed loop; HbA1c 48 or below; never stop insulin when ill.
- Paediatric DKA: slow rehydration over 48 hours, insulin 0.05–0.1 units/kg/hour started 1–2 hours after fluids, no bolus.
- Cerebral oedema (headache, bradycardia, rising BP) — hypertonic saline or mannitol immediately.
- Hypoglycaemia without diabetes: take a hypo screen during the episode.
- Congenital hypothyroidism is screened at birth — start levothyroxine within 2 weeks.
- CAH: virilised girls; boys present with salt-wasting crisis at 1–3 weeks (low sodium, high potassium, low glucose) — hydrocortisone.
- Emergency hydrocortisone: 25 mg under 1, 50 mg aged 1–5, 100 mg aged 6 and over.
- Ambiguous genitalia: urgent assessment; don't guess the sex; check electrolytes.
Guidelines and Further Reading
- NICE NG224: Urinary tract infection in under 16s — diagnosis and management
- NICE CG54: Urinary tract infection in under 16s (imaging)
- NICE CG111: Bedwetting in under 19s
- NICE NG18: Diabetes (type 1 and type 2) in children and young people
- NICE TA943: Hybrid closed loop systems for managing blood glucose in type 1 diabetes
- BSPED: Guideline for the management of children and young people under 18 with diabetic ketoacidosis
- British Association for Paediatric Nephrology: guidance on nephrotic syndrome
- BSPED: Adrenal insufficiency and CAH guidance (emergency steroid doses)
- BNF for Children — for current doses
7. Neurology and Musculoskeletal Disorders
🧠 Neurology, bones and joints in children — most children who "fit" with a fever have a febrile seizure, and most funny turns are not epilepsy — a good eyewitness account (or phone video) matters more than any test. With limping children, the key job is not to miss septic arthritis, SUFE, a tumour or non-accidental injury. Age is the best guide to the likely cause.
Your four questions for every child: Is this child well or ill (fever, can they bear weight)? What is the age-typical cause? Are development and examination normal? Does the story fit the injury (safeguarding)?
Febrile Seizures
- What they are: Seizures with a fever in children aged about 6 months to 5 years, without CNS infection or a previous afebrile seizure. Affect about 1 in 30 children; family history common.
- Types:
- Simple — generalised tonic-clonic, under 15 minutes, does not recur in the same illness, full recovery within an hour.
- Complex — focal features, 15 minutes or longer, recurs within the same illness (or 24 hours), or incomplete recovery within an hour.
- Febrile status — 30 minutes or more.
- Assessment — find the source of fever (ears, throat, urine, chest); exclude meningitis (neck stiffness, bulging fontanelle, non-blanching rash, drowsiness) — lower threshold for LP in babies, if already on antibiotics, or complex seizures.
- Admit — first seizure (often), complex seizure, under 18 months, unclear source, possible meningitis, parental anxiety or unable to cope.
- Management:
- Seizure over 5 minutes — buccal midazolam (see Status Epilepticus).
- Treat the cause of fever.
- Paracetamol or ibuprofen for comfort only — they do not prevent febrile seizures.
- No EEG or anticonvulsants needed for simple febrile seizures.
- Advice for parents — put the child on their side, don't put anything in the mouth, time the seizure, call 999 if over 5 minutes (or give buccal midazolam if prescribed).
- Prognosis:
- Recurrence about 1 in 3 (higher if first seizure under 18 months, family history, low fever at seizure).
- Epilepsy risk — slightly raised (about 1 in 50 after simple seizures; higher after complex ones or with developmental problems).
- No effect on intelligence or development.
💡 Clinical Pearl: Parents often believe their child was dying during a febrile seizure. Clear explanation and written advice are as important as the medical assessment — and remind them that fever medicines won't stop another seizure.
Epilepsy in Children
- Diagnosis — two or more unprovoked seizures more than 24 hours apart (or one with a high recurrence risk). Diagnosis is clinical, based on a detailed account — ask for a video.
- After a first suspected seizure — refer to a specialist (seen within 2 weeks, NICE NG217); ECG (exclude cardiac causes); glucose; safety advice.
- Tests:
- EEG — supports the diagnosis and helps classify the epilepsy; a normal EEG does not exclude epilepsy; sleep-deprived EEG if routine is normal.
- MRI brain — for focal seizures, onset under 2 years, developmental problems, abnormal examination, or not responding to treatment.
- Genetic testing (especially in early-onset epilepsy or with developmental delay); metabolic tests in some.
- Seizure types — focal (aware or impaired awareness), generalised (tonic-clonic, absence, myoclonic, atonic, tonic), unknown onset.
- Drug treatment (NICE NG217 — choose by seizure type or syndrome):
- Generalised tonic-clonic — valproate (boys; girls only if others unsuitable); lamotrigine or levetiracetam for girls and women who could become pregnant.
- Focal — lamotrigine or levetiracetam; carbamazepine, oxcarbazepine or zonisamide as alternatives.
- Absence — ethosuximide; then valproate or lamotrigine.
- Myoclonic — valproate (boys); levetiracetam for girls.
- Avoid carbamazepine and phenytoin in absence and myoclonic seizures (make them worse).
- Valproate safety — very high risk of birth defects and neurodevelopmental problems after exposure in pregnancy. MHRA rules: not to be started in anyone under 55 unless two specialists agree there's no alternative; girls need a Pregnancy Prevention Programme (from when periods start).
- Living with epilepsy:
- Safety — showers not baths (or supervised baths), swimming only with supervision, cycling with a helmet away from roads, no climbing heights.
- School care plan; rescue medicine (buccal midazolam) for prolonged seizures.
- Driving (teenagers) — DVLA rules.
- SUDEP (sudden unexpected death in epilepsy) — discuss; higher with uncontrolled tonic-clonic seizures, especially at night.
- Learning, behaviour and mood problems are common — screen and support.
- Drug-resistant epilepsy (failure of two suitable drugs) — refer to tertiary epilepsy services: ketogenic diet, epilepsy surgery, vagus nerve stimulation, cannabidiol (in Dravet and Lennox–Gastaut).
Epilepsy Syndromes
| Syndrome | Key features and treatment |
|---|---|
| Infantile spasms (West syndrome) | Onset 3–12 months; clusters of sudden flexion of the trunk and limbs ("salaam" spasms), often on waking; developmental regression; EEG — hypsarrhythmia. Causes include tuberous sclerosis, HIE, genetic. Urgent (same-week) treatment — prednisolone (or ACTH) with vigabatrin; vigabatrin first in tuberous sclerosis. Vigabatrin can cause visual field loss. |
| Childhood absence epilepsy | Age 4–10, girls more often; many brief (under 10 seconds) staring spells a day with eyelid flutter, abrupt start and end, no confusion after; "daydreaming" at school. Triggered by hyperventilation. EEG — 3 per second spike and wave. Ethosuximide. Most outgrow it. |
| Juvenile myoclonic epilepsy | Teenagers; morning myoclonic jerks (dropping things at breakfast), generalised tonic-clonic seizures and absences; triggered by sleep deprivation, alcohol and flashing lights. EEG — polyspike and wave, photosensitivity. Valproate (boys); levetiracetam (girls). Usually lifelong. |
| Self-limited epilepsy with centrotemporal spikes (benign rolandic) | Age 4–10; focal seizures from sleep — tingling or twitching of one side of the face, drooling, gurgling, unable to speak, sometimes spreading to tonic-clonic. EEG — centrotemporal spikes. Often no treatment; lamotrigine or levetiracetam if frequent. Resolves by puberty. |
| Lennox–Gastaut syndrome | Onset 1–8 years; multiple seizure types (tonic, atonic "drop attacks", atypical absences); learning disability; EEG — slow spike and wave. Hard to treat — valproate, lamotrigine, rufinamide, cannabidiol, ketogenic diet. |
| Dravet syndrome | SCN1A mutation; prolonged febrile and afebrile seizures from the first year, then developmental slowing. Avoid sodium channel blockers (carbamazepine, lamotrigine, phenytoin). Valproate, clobazam, stiripentol, fenfluramine, cannabidiol. |
⚠️ Safety Pearl: Infantile spasms are easily mistaken for colic or startles. Clusters of jerks on waking in a baby whose development has stalled need an EEG within days — delay worsens the developmental outcome.
Funny Turns That Aren't Epilepsy
- Breath-holding spells (6 months to 5 years):
- Cyanotic — triggered by anger or frustration: cries, holds breath, goes blue, may go limp or briefly stiffen; rapid recovery.
- Pallid (reflex anoxic seizures) — triggered by a sudden fright or minor bump: goes pale and floppy (vagal slowing of the heart), may jerk briefly; recovers within a minute.
- Reassure; check for iron deficiency (iron helps); ECG if pallid episodes.
- Vasovagal syncope (faints) — standing, heat, pain, blood; warning symptoms (dizzy, sweaty, vision greying); brief jerks can occur; quick recovery.
- Cardiac syncope — red flags: during exercise or swimming, triggered by a loud noise or fright, palpitations, family history of sudden death — ECG (long QT, Brugada, WPW, HCM) and cardiology.
- Night terrors (age 3–8) — screaming, frightened, not consolable, no memory in the morning; in early sleep. Reassure.
- Daydreaming — can be interrupted (unlike absences).
- Benign sleep myoclonus (babies — jerks only in sleep); shuddering attacks; self-gratification in toddlers; tics.
- Benign paroxysmal vertigo (toddlers — sudden unsteadiness, frightened, conscious; a migraine precursor).
- Functional (dissociative) seizures — mostly teenagers; eyes closed, pelvic thrusting, side-to-side head movement, long duration; video EEG; explain and refer for psychological therapy.
- Other — hypoglycaemia, reflux in babies (Sandifer syndrome — arching and neck posturing), fabricated illness.
Status Epilepticus
- Definition — a seizure lasting 5 minutes or more, or repeated seizures without recovery in between. Treat at 5 minutes.
- Steps (APLS algorithm — see the Paediatric Emergencies chapter):
- ABC, oxygen, check glucose ("don't ever forget glucose").
- First benzodiazepine (5 minutes) — IV lorazepam 0.1 mg/kg (max 4 mg), or if no IV access buccal midazolam (about 0.3 mg/kg, max 10 mg) or rectal diazepam.
- Second benzodiazepine after 5 more minutes if still fitting.
- Second-line drug — levetiracetam or phenytoin (or valproate) — with senior help.
- Refractory — rapid sequence induction (anaesthetist) and PICU.
- Look for the cause — fever (meningitis, encephalitis), low glucose, low sodium or calcium, head injury, poisoning, epilepsy with missed medication.
Headache in Children
- Common causes — viral illness, migraine (with or without aura), tension-type headache, medication overuse, sinusitis, poor sleep, dehydration, eye strain (rarely).
- Migraine in children:
- Often shorter (from 2 hours) and bilateral (frontal) compared with adults; nausea, vomiting, pallor; wants to lie down in a dark room; sleep relieves it.
- Childhood variants — abdominal migraine (episodic central abdominal pain with pallor), cyclical vomiting, benign paroxysmal vertigo, benign paroxysmal torticollis (babies).
- Treatment — ibuprofen or paracetamol early; nasal triptan (sumatriptan or zolmitriptan) for ages 12–17; antiemetic.
- Prevention — headache diary, regular sleep, meals and fluids, avoid triggers; propranolol, pizotifen, amitriptyline (specialist); avoid topiramate in girls who could become pregnant (MHRA).
- Red flags — urgent assessment (possible brain tumour or raised pressure):
- Headache that wakes the child from sleep or is worst on waking, with vomiting (especially early morning).
- Persistent or progressive headache, or a change in character.
- Headache worse on coughing, straining or lying down.
- Neurological signs — ataxia, squint, cranial nerve palsy, papilloedema, visual field loss, abnormal eye movements.
- Behaviour change, deteriorating school work, growth failure or delayed puberty, polyuria.
- Under 4 years; head growing fast (crossing centiles).
- Confusion, seizures, fever with neck stiffness (meningitis).
- Idiopathic intracranial hypertension — teenage girls with obesity: headache, papilloedema, visual blurring, sixth nerve palsy; normal MRI; raised CSF pressure — weight loss, acetazolamide; protect vision.
- Brain tumours — the commonest solid tumours in children (see the Haematology, Oncology and Genetics chapter); "HeadSmart" symptom awareness.
Cerebral Palsy
- What it is: A permanent, non-progressive disorder of movement and posture, from damage to the developing brain (before, during or soon after birth — up to about age 2). The commonest physical disability in childhood (about 2 per 1,000).
- Causes / risk factors:
- Antenatal (most) — prematurity (periventricular leukomalacia), infection (CMV, toxoplasmosis), stroke, brain malformations, multiple pregnancy.
- Around birth — hypoxic-ischaemic encephalopathy.
- After birth — meningitis, encephalitis, severe jaundice (kernicterus), head injury (including non-accidental), hypoglycaemia.
- Types:
- Spastic (about 80%) — increased tone, brisk reflexes, upgoing plantars, clasp-knife spasticity:
- Hemiplegia — one side (arm more than leg); early hand preference.
- Diplegia — legs more than arms (prematurity); "scissoring", toe walking.
- Quadriplegia — all four limbs; often with learning disability, epilepsy and feeding problems.
- Dyskinetic — involuntary movements (dystonia, chorea, athetosis); basal ganglia damage (HIE, kernicterus).
- Ataxic — poor balance and coordination, intention tremor (cerebellum).
- Mixed.
- Spastic (about 80%) — increased tone, brisk reflexes, upgoing plantars, clasp-knife spasticity:
- Early signs — delayed motor milestones, abnormal tone (often floppy at first, then stiff), feeding difficulty, hand preference before 12 months, persistent primitive reflexes, unusual movements, toe walking.
- Associated problems — learning disability, epilepsy, vision and hearing problems, speech and swallowing difficulty (aspiration), drooling, constipation, reflux, poor growth, hip dislocation, scoliosis, pain, sleep problems, behaviour and emotional difficulties.
- Management (NICE NG62) — multidisciplinary team:
- Physiotherapy, occupational therapy, speech and language therapy, orthotics, wheelchairs and equipment.
- Spasticity — oral baclofen, diazepam (short term), botulinum toxin injections, intrathecal baclofen, selective dorsal rhizotomy, orthopaedic surgery.
- Hip surveillance X-rays (hip displacement).
- Drooling — glycopyrronium, hyoscine patches.
- Nutrition (gastrostomy if unsafe swallow); constipation; reflux; epilepsy treatment; communication aids; education support.
- GMFCS (Gross Motor Function Classification System) — level I (walks without limits) to V (severe limits; transported in a wheelchair).
Head Size and Hydrocephalus
- Measure head circumference (occipitofrontal) and plot on centile charts; track over time.
- Microcephaly (under 2nd centile, or falling across centiles) — familial, genetic syndromes, congenital infection (CMV, Zika, toxoplasmosis), fetal alcohol, HIE, craniosynostosis, maternal PKU.
- Macrocephaly (over 98th centile) — familial (check parents' heads — the commonest), hydrocephalus, subdural collections (consider non-accidental injury), metabolic and genetic conditions (e.g. neurofibromatosis), achondroplasia.
- Hydrocephalus — too much CSF in the ventricles:
- Non-communicating (obstructive) — aqueduct stenosis, posterior fossa tumours, Chiari malformation.
- Communicating — after intraventricular haemorrhage (prematurity) or meningitis.
- Signs in babies — head growing fast (crossing centiles), bulging fontanelle, separated sutures, distended scalp veins, "sunsetting" eyes, vomiting, irritability.
- Older children — headache, vomiting, papilloedema, drowsiness, sixth nerve palsy.
- Treatment — ventriculoperitoneal (VP) shunt or endoscopic third ventriculostomy.
- Shunt problems — blockage (headache, vomiting, drowsiness — urgent neurosurgical review) and infection (fever, redness along the shunt, abdominal pain).
- Head shape:
- Positional (plagiocephaly) — flattening from lying on one side; ear pushed forward on the flat side ("parallelogram"); common since back-sleeping advice; tummy time while awake, vary position; improves with time.
- Craniosynostosis — early fusion of skull sutures; abnormal head shape (e.g. long narrow head in sagittal synostosis); ridging over the suture; can raise intracranial pressure; refer to craniofacial surgery; associated syndromes (Crouzon, Apert).
Neural Tube Defects
- What they are: Failure of the neural tube to close in the first month of pregnancy.
- Types:
- Anencephaly — no skull vault or brain; not compatible with life.
- Spina bifida occulta — bony defect only; may have a tuft of hair, dimple, lipoma or birthmark over the lower spine; can hide a tethered cord (bladder problems, leg weakness, foot deformity with growth).
- Meningocele — sac of meninges without nerve tissue; usually few problems.
- Myelomeningocele — spinal cord and nerves in the sac; the most serious.
- Encephalocele — brain through a skull defect.
- Myelomeningocele problems — leg paralysis and loss of sensation below the lesion, neuropathic bladder (UTIs, kidney damage — clean intermittent catheterisation), neuropathic bowel, hydrocephalus (Chiari II malformation — most need a shunt), talipes, hip dislocation, scoliosis, pressure sores, latex allergy.
- Prevention — folic acid 400 micrograms daily from before conception to 12 weeks; 5 mg for higher risk (previous NTD, family history, antiepileptic drugs, diabetes, BMI 30 or more, sickle cell disease). Avoid valproate in pregnancy. Folic acid fortification of non-wholemeal flour in the UK is being introduced.
- Detection — 20-week anomaly scan (lemon and banana signs); raised maternal AFP.
- Management at birth — cover the lesion with sterile, moist, non-latex dressing; lie the baby prone; neurosurgical closure within 48 hours; some have fetal surgery.
- Sacral dimples — a simple dimple within 2.5 cm of the anus, under 5 mm, with a visible base, is normal; refer for ultrasound if large, high, off-centre or with other skin markers.
Neurocutaneous Syndromes
| Condition | Key features |
|---|---|
| Neurofibromatosis type 1 (autosomal dominant, NF1 gene, chromosome 17) | Six or more café-au-lait macules (over 5 mm before puberty, over 15 mm after), axillary or groin freckling, neurofibromas (and plexiform neurofibromas), Lisch nodules (iris), optic pathway glioma, bony problems (scoliosis, tibial bowing), learning difficulties and ADHD, hypertension (renal artery stenosis, phaeochromocytoma), malignant change. Selumetinib for symptomatic plexiform neurofibromas. |
| Neurofibromatosis type 2 (chromosome 22) | Bilateral vestibular schwannomas (hearing loss, tinnitus), meningiomas, cataracts in young people; fewer skin signs. |
| Tuberous sclerosis (autosomal dominant; TSC1/TSC2) | Ash leaf macules (pale patches — see with a Wood's lamp), facial angiofibromas (adenoma sebaceum — from age 3–5), shagreen patch, periungual fibromas; infantile spasms and epilepsy, learning disability, autism; cardiac rhabdomyomas (antenatal), renal angiomyolipomas and cysts, retinal hamartomas. mTOR inhibitors (everolimus). |
| Sturge–Weber syndrome (sporadic, GNAQ) | Port wine stain in the distribution of the ophthalmic (first) division of the trigeminal nerve, with leptomeningeal angioma: seizures, hemiparesis, learning difficulty, glaucoma. MRI; eye pressure checks. |
The Floppy Infant
- What it looks like — poor head control, "rag doll" posture, slips through hands when held under the arms, frog-leg lying, head lag.
- Central causes (the commonest — about two-thirds) — floppy but moves well (not very weak), brisk or normal reflexes, often other signs (seizures, poor alertness, dysmorphic features):
- HIE, brain malformations, Down syndrome, Prader–Willi syndrome, metabolic disorders, hypothyroidism, sepsis, drugs (maternal), hypoglycaemia.
- Peripheral (neuromuscular) causes — floppy and very weak, absent or reduced reflexes, alert, normal face (except myopathies):
- Spinal muscular atrophy (anterior horn cells) — tongue fasciculations, absent reflexes, alert face.
- Congenital myotonic dystrophy (mother has myotonic dystrophy — check her handshake), congenital myopathies and muscular dystrophies.
- Myasthenia (transient neonatal — mother with myasthenia; congenital myasthenic syndromes), infant botulism.
- Tests — glucose, TFTs, infection screen, CK (raised in muscular dystrophies), genetic tests (SMN1, methylation for Prader–Willi, microarray), MRI brain, nerve conduction and EMG, muscle biopsy.
Duchenne and Other Muscle Disease
- Duchenne muscular dystrophy:
- X-linked recessive — boys; absent dystrophin; about 1 in 3,500 boys; a third are new mutations.
- Features — late walking, difficulty running, jumping and climbing stairs (age 2–5), frequent falls, waddling gait, toe walking, Gowers' sign (uses hands to "climb up" the legs to stand), calf pseudohypertrophy, speech or learning delay.
- Tests — CK hugely raised (tens of thousands) — check CK in any boy not walking by 18 months; genetic testing (dystrophin gene deletions); raised ALT/AST (from muscle — don't mistake for liver disease).
- Course — loses walking around the early teens (later with steroids); scoliosis; cardiomyopathy; respiratory failure; life expectancy now into the 30s or beyond with good care.
- Management — corticosteroids (prednisolone, deflazacort or vamorolone) to slow decline; physiotherapy, night splints; cardiac monitoring (ACE inhibitors); non-invasive ventilation; scoliosis surgery; bone health; steroid emergency planning; genetic counselling (carrier testing for mother and sisters). Some genetic therapies (e.g. ataluren for nonsense mutations).
- Becker muscular dystrophy — reduced or abnormal dystrophin; milder, later onset (walks beyond 16); cardiomyopathy.
- Spinal muscular atrophy (SMA) — autosomal recessive (SMN1 deletion); loss of anterior horn cells:
- Type 1 (the most severe) — onset under 6 months, profound floppiness, can't sit, tongue fasciculations, absent reflexes, bell-shaped chest, alert face; breathing and feeding failure.
- Types 2–4 — later onset and milder.
- Treatments — nusinersen (intrathecal), risdiplam (oral), onasemnogene abeparvovec (one-off gene therapy) — best when given early, before symptoms.
- Myotonic dystrophy — autosomal dominant (CTG repeat — anticipation; congenital form when inherited from the mother).
- Myasthenia gravis in children — fatigable ptosis, double vision, weakness.
Acute Weakness and Unsteadiness
- Guillain–Barré syndrome — after an infection; ascending weakness, absent reflexes, back or leg pain (often presents as refusing to walk); watch breathing (vital capacity) and autonomic problems; IV immunoglobulin.
- Transverse myelitis; spinal cord compression (tumour, abscess) — back pain, sensory level, bladder problems — urgent MRI.
- Stroke in children — sickle cell disease, heart disease, arteriopathy (after chickenpox), moyamoya; FAST signs apply — urgent imaging.
- Bell's palsy — exclude ear disease, hypertension, Lyme disease; steroids (see the Neuromuscular Disease chapter).
- Acute ataxia (unsteady walking):
- Post-infectious cerebellitis — the commonest (1–3 weeks after chickenpox or another virus) in a well toddler; resolves over weeks.
- Drugs and poisons — alcohol, antiepileptics, benzodiazepines, antihistamines.
- Posterior fossa tumour — progressive, with headache, vomiting and papilloedema — urgent imaging.
- Encephalitis, head injury, Guillain–Barré (Miller Fisher variant), neuroblastoma (opsoclonus-myoclonus — "dancing eyes").
- Chronic ataxia — ataxic CP, ataxia telangiectasia (telangiectasia of the eyes, infections, cancer risk), Friedreich's ataxia.
Tics and Regression
- Tics — sudden, repetitive movements (blinking, grimacing, shrugging) or sounds (sniffing, throat clearing); can be briefly suppressed; worse with stress or tiredness; very common in primary school children; usually settle.
- Tourette syndrome — multiple motor tics and at least one vocal tic for over a year, starting before 18; associated with ADHD, OCD and anxiety. Education, behavioural therapy (habit reversal, CBIT); medication (aripiprazole, clonidine) if severe.
- PANDAS / PANS — sudden onset of OCD or tics after streptococcal infection (debated).
- Sydenham's chorea — after group A strep (rheumatic fever); jerky, purposeless movements, emotional lability.
- Developmental regression (losing skills already gained) — always refer urgently:
- Infantile spasms; Landau–Kleffner syndrome (loss of language with an abnormal sleep EEG).
- Rett syndrome — girls (MECP2); normal early development, then loss of hand skills and speech (6–18 months), hand-wringing, slowing head growth, breathing irregularities, seizures.
- Neurodegenerative and metabolic disorders (leukodystrophies, Batten disease, mitochondrial disease).
- Autism (regression of language around 18–24 months in some); severe hypothyroidism; brain tumour; hearing loss; abuse or neglect.
The Limping Child
| Age | Main causes to think about |
|---|---|
| 0–3 years | Septic arthritis and osteomyelitis, DDH (late), toddler's fracture (spiral tibial fracture), non-accidental injury, transient synovitis (less common), neuromuscular (CP), foreign body in the foot. |
| 3–10 years | Transient synovitis (the commonest), Perthes disease, septic arthritis, fractures, JIA, leukaemia, discitis. |
| 10–16 years | SUFE, overuse and sports injuries, Osgood–Schlatter, JIA, bone tumours (osteosarcoma, Ewing's), osteomyelitis. |
- History — onset, trauma (does the story fit?), fever, pain (night pain, rest pain), recent illness, other joints, weight loss, bruising, development.
- Examination — temperature; walk; examine all joints including the hip and spine (hip problems often cause knee pain); feet and shoes; abdomen (appendicitis, psoas abscess, testicular torsion); skin (bruises, rashes).
- Red flags — fever, unable to bear weight, systemically unwell, night pain or waking, weight loss, night sweats, bruising or pallor (leukaemia), under 3 years, a story that doesn't fit (NAI).
- Tests — FBC, CRP, ESR, blood cultures, X-ray (AP and frog-leg lateral of both hips), hip ultrasound (effusion), MRI.
- Refer urgently — any child under 3 with an acute limp, a child over 9 with restricted hip movement (SUFE), any child with fever and limp.
⚠️ Safety Pearl: A teenager complaining of knee pain may have hip disease. Always examine the hip — SUFE presenting as "knee pain" is a classic missed diagnosis.
Septic Arthritis and Osteomyelitis
- Septic arthritis — an orthopaedic emergency (pus destroys the cartilage within hours):
- Organisms — Staphylococcus aureus (the commonest), Kingella kingae (under 4 years), group A strep, pneumococcus; Hib in unvaccinated; gonococcus in sexually active teenagers.
- Features — hot, swollen, very painful joint (usually hip or knee), refuses to move it or bear weight, fever, unwell; babies hold the leg still (pseudoparalysis).
- Kocher criteria (hip) — non-weight bearing, fever over 38.5 °C, ESR over 40, WCC over 12. More criteria means higher probability (4 out of 4 — very likely). CRP over 20 adds to the risk.
- Tests — FBC, CRP, ESR, blood cultures, ultrasound (effusion), joint aspiration (Gram stain, culture, PCR for Kingella).
- Treatment — urgent washout in theatre plus IV antibiotics (e.g. cefuroxime or ceftriaxone, or flucloxacillin, per local policy), then oral for a total of about 3 weeks.
- Osteomyelitis — infection of bone, usually the metaphysis of long bones (femur, tibia) by blood spread:
- Features — fever, localised bone pain and tenderness, reluctance to use the limb.
- X-ray normal for 10–14 days — MRI is the best test.
- Treatment — IV then oral antibiotics (3–6 weeks); surgery for abscesses.
- Sickle cell disease — Salmonella osteomyelitis.
- Discitis — young children; refuses to walk or sit, back pain, stiff spine; MRI.
Transient Synovitis
- What it is: Short-lived inflammation of the hip joint lining — the commonest cause of acute limp in children aged 3–8; boys more often.
- Features — sudden limp or hip pain, often after a viral illness (cold), well child, no fever or low-grade only, can usually bear some weight, mild restriction of hip movement (internal rotation).
- Key job — exclude septic arthritis (Kocher criteria, bloods if any doubt; ultrasound may show an effusion in both).
- Can be managed in primary care if aged 3–9, well, afebrile, mobile but limping, with symptoms under 72 hours — rest, ibuprofen, safety-net advice (return if fever or worse); review in 48 hours.
- Course — settles within 1–2 weeks; if longer, investigate (Perthes, JIA).
Perthes Disease
- What it is: Avascular necrosis of the femoral head (Legg–Calvé–Perthes) — the bone dies, collapses, then re-forms over 2–4 years.
- Who — boys aged 4–8 (5 times more than girls); small for age; 10–20% bilateral.
- Features — gradual limp, hip, groin, thigh or knee pain, reduced hip abduction and internal rotation; afebrile; normal bloods.
- Tests — X-ray (AP and frog-leg lateral): increased density, then flattening and fragmentation of the femoral head; may be normal early (MRI).
- Management — refer to paediatric orthopaedics; under 6 — usually observation, physiotherapy, pain relief, activity changes; older children or more head involvement — surgery (osteotomy) to keep the head in the socket.
- Prognosis — better in younger children; risk of early arthritis.
Slipped Upper Femoral Epiphysis
- What it is: The femoral head slips backwards off the femoral neck through the growth plate.
- Who — age 10–15 (during the growth spurt), boys, obesity; also hypothyroidism, growth hormone treatment, renal disease. 20–40% bilateral.
- Features — hip, groin, thigh or knee pain; limp; leg externally rotated and shortened; loss of internal rotation (the hip swings into external rotation when flexed); acute or chronic; may be unable to weight-bear (unstable slip).
- Tests — X-ray both hips — AP and frog-leg lateral (slip may only be seen on the lateral; Klein's line).
- Management — urgent referral; stop weight-bearing (crutches or wheelchair); surgical pinning (in-situ screw fixation) — often the other hip too.
- Complications — avascular necrosis (especially unstable slips), chondrolysis, early osteoarthritis.
Developmental Dysplasia of the Hip
- What it is: An abnormally shaped hip socket — from unstable to fully dislocated. More common in girls, the left hip, first babies.
- Risk factors — first-degree family history of early hip problems, breech presentation at or after 36 weeks (or breech delivery), oligohydramnios, multiple pregnancy; tight swaddling of the legs.
- Screening (NHS Newborn and Infant Physical Examination) — hip check at the newborn and 6–8 week examinations:
- Barlow test — tries to dislocate an unstable hip backwards.
- Ortolani test — relocates a dislocated hip (a "clunk").
- Abnormal examination — hip ultrasound within 2 weeks and orthopaedic review.
- Risk factors with a normal examination — ultrasound by 6 weeks.
- Later signs — limited hip abduction, leg length difference, asymmetrical thigh creases, painless limp or waddling gait when walking starts; X-ray after 4–5 months (ultrasound before).
- Treatment:
- Pavlik harness (under 6 months) — holds the hips flexed and abducted; worn for about 6–12 weeks.
- Older or failed harness — closed or open reduction and spica cast; osteotomy.
- Untreated — limp, pain and early arthritis.
Juvenile Idiopathic Arthritis
- Definition — arthritis starting before age 16, lasting 6 weeks or more, with no other cause. About 1 in 1,000 children.
- Features — joint swelling, morning stiffness, limping (often painless in young children), reluctance to play; fever and rash in systemic JIA.
- Subtypes:
- Oligoarticular (the commonest) — 4 or fewer joints (often one knee), girls under 6, ANA positive; high risk of anterior uveitis (painless — needs regular slit-lamp screening).
- Polyarticular — 5 or more joints; RF-positive form (teenage girls) is like adult rheumatoid arthritis.
- Systemic JIA (Still's disease) — daily spiking fevers (quotidian), salmon-pink rash with fever, lymphadenopathy, hepatosplenomegaly, serositis; arthritis may come later; high ferritin. Risk of macrophage activation syndrome (falling ESR, low platelets, very high ferritin — an emergency).
- Enthesitis-related — boys over 6, HLA-B27, heel pain, sacroiliitis.
- Psoriatic — dactylitis, nail pitting, psoriasis.
- Exclude — septic arthritis, leukaemia (night pain, low counts), reactive arthritis, IgA vasculitis, Lyme disease, non-accidental injury.
- Treatment (paediatric rheumatology):
- NSAIDs; intra-articular steroid injections.
- Methotrexate (weekly, with folic acid) — first-line DMARD.
- Biologics — etanercept, adalimumab (also for uveitis), tocilizumab and anakinra (systemic JIA).
- Physiotherapy; eye screening; growth, bone health, school and psychological support.
- Other childhood rheumatic disease — juvenile dermatomyositis (heliotrope rash, Gottron's papules, proximal weakness), juvenile SLE, Kawasaki disease, IgA vasculitis, hypermobility.
Knee and Leg Pain in Older Children
- Osgood–Schlatter disease — active adolescents (sports), pain and a tender bony lump at the tibial tuberosity (patellar tendon traction); worse with running and kneeling. Rest, ice, ibuprofen, stretching; settles when growth stops.
- Sinding-Larsen–Johansson — similar, at the lower pole of the patella.
- Patellofemoral pain — teenage girls; anterior knee pain on stairs, squatting and sitting (the "moviegoer's sign"); physiotherapy (quadriceps strengthening).
- Patellar dislocation — usually lateral, after twisting; hypermobile girls.
- Osteochondritis dissecans — a fragment of bone and cartilage separates (usually the medial femoral condyle); pain, swelling, locking; X-ray or MRI.
- Bone tumours — osteosarcoma (around the knee — distal femur, proximal tibia) and Ewing's sarcoma — teenagers with persistent, unexplained bone pain, night pain, swelling: very urgent X-ray (within 48 hours, NICE NG12).
- Leukaemia — bone pain, limp, pallor, bruising, infection.
- Hip disease (SUFE, Perthes) — referred knee pain.
Normal Variants and Growing Pains
- Bow legs (genu varum) — normal under 2–3; refer if severe, one-sided, getting worse after 2, or short stature (rickets, Blount's disease).
- Knock knees (genu valgum) — normal at 3–7; refer if severe, asymmetrical or persisting.
- In-toeing:
- Metatarsus adductus (babies — curved foot) — most correct.
- Internal tibial torsion (toddlers) — resolves by 4–5.
- Femoral anteversion (3–8 — "W-sitting", kneecaps point inwards) — resolves by about 10.
- Flat feet — normal in toddlers; flexible (arch appears on tiptoe) needs no treatment; refer if rigid or painful (tarsal coalition).
- Toe walking — often habitual up to 3; check for CP, Duchenne (check CK in boys), autism, tight Achilles, leg length difference.
- Growing pains — age 3–12; bilateral leg (shin, calf, thigh) pain in the evening or night; never during the day; no limp; normal examination, growth and activity; eased by rubbing. Reassure.
- Not growing pains — one-sided, in a joint, limp, daytime pain, systemic symptoms, abnormal examination — investigate (FBC, CRP, X-ray).
- Joint hypermobility — common; Beighton score; pain, fatigue; physiotherapy. Consider Ehlers–Danlos or Marfan syndrome if features.
Scoliosis and Talipes
- Scoliosis — sideways curve of the spine with rotation:
- Adolescent idiopathic — the commonest; girls, during the growth spurt; usually painless.
- Signs — uneven shoulders, waist asymmetry, a rib hump on bending forward (Adam's forward bend test).
- Red flags — pain (especially night pain — osteoid osteoma, infection, tumour), neurological signs, left thoracic curve, rapid progression, young age — MRI.
- Other causes — congenital (vertebral anomalies), neuromuscular (CP, Duchenne, SMA), syndromic (Marfan, NF1).
- Treatment — X-ray (Cobb angle); observation; brace for moderate curves while growing; spinal fusion for large curves (over about 45–50°).
- Talipes equinovarus (clubfoot):
- Foot points down and in; can't be corrected passively; about 1 in 1,000; boys; half bilateral. Check the hips and spine (associated DDH, spina bifida).
- Ponseti method — weekly serial casting, then Achilles tenotomy, then boots and bar at night until about 4 years.
- Positional talipes — from position in the womb; the foot can be moved into a normal position; resolves with stretching.
Fractures and Pulled Elbow
- Children's bones bend — buckle (torus) fractures (wrist — splint, no follow-up needed), greenstick fractures (one side breaks), plastic bowing.
- Growth plate (Salter–Harris) fractures — types I–V; higher types risk growth arrest (need orthopaedic review).
- Supracondylar fracture of the humerus — fall on an outstretched hand (age 5–7): swollen, painful elbow; check radial pulse and nerves (anterior interosseous — can't make an "OK" sign; median, radial and ulnar) — vascular injury and compartment syndrome risk; may need urgent reduction and wiring.
- Toddler's fracture — spiral fracture of the tibia from a twist in a walking toddler; limp or refusal to walk; X-ray may be normal at first.
- Pulled elbow (nursemaid's elbow) — age 1–4; after the child is lifted or pulled by the hand; the radial head slips out of the annular ligament: cries, then holds the arm still, slightly bent and pronated, won't use it; no swelling. Reduce by supination and flexion (or hyperpronation) — a click and the child uses the arm within minutes; no X-ray needed if the story is typical.
- Fractures that suggest abuse (see the Safeguarding chapter):
- Any fracture in a baby who isn't yet mobile.
- Posterior rib fractures, metaphyseal corner ("bucket-handle") fractures, skull fractures in infants.
- Multiple fractures of different ages; a femoral fracture in a non-walker.
- A history that doesn't fit, a delay in seeking help, or a changing story.
- Consider brittle bone conditions — osteogenesis imperfecta (blue sclerae, hearing loss, family history), rickets.
Drug Reference Table
| Drug | Key points |
|---|---|
| Buccal midazolam | Seizure over 5 minutes outside hospital — about 0.3 mg/kg (max 10 mg); doses by age in BNF for Children. |
| Lorazepam IV 0.1 mg/kg (max 4 mg) | First-line in hospital for status epilepticus; can repeat once. |
| Levetiracetam | Generalised and focal epilepsy, myoclonic (girls); second-line in status. Mood and behaviour changes. |
| Lamotrigine | Focal and generalised epilepsy; slow titration — rash (Stevens–Johnson). Can worsen myoclonic seizures and Dravet. |
| Sodium valproate | Generalised epilepsies in boys; avoid in girls — highly teratogenic (Pregnancy Prevention Programme). Liver toxicity, weight gain. |
| Ethosuximide | Childhood absence epilepsy — first-line. |
| Carbamazepine | Focal seizures; worsens absence and myoclonic seizures. |
| Vigabatrin / prednisolone | Infantile spasms (vigabatrin first in tuberous sclerosis); vigabatrin — visual field loss. |
| Ibuprofen / paracetamol | Fever comfort and migraine — don't prevent febrile seizures. |
| Sumatriptan or zolmitriptan (nasal) | Acute migraine age 12–17. |
| Propranolol / pizotifen | Migraine prevention; avoid topiramate in girls who could become pregnant. |
| Baclofen / botulinum toxin | Spasticity in cerebral palsy. |
| Glycopyrronium | Drooling in cerebral palsy. |
| Prednisolone / deflazacort / vamorolone | Duchenne muscular dystrophy — slows decline. |
| Nusinersen / risdiplam / onasemnogene | Spinal muscular atrophy. |
| IV antibiotics (e.g. cefuroxime, ceftriaxone, flucloxacillin) | Septic arthritis and osteomyelitis — per local policy, with surgical washout. |
| Methotrexate (weekly) + folic acid | First-line DMARD in JIA. |
| Etanercept / adalimumab / tocilizumab | Biologics for JIA (adalimumab also for uveitis; tocilizumab for systemic JIA). |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| 18-month-old with a 3-minute generalised seizure with a temperature of 39 °C and otitis media | Simple febrile seizure |
| 6-month-old with clusters of jerks on waking and loss of smiling | Infantile spasms (West syndrome) |
| 7-year-old girl with many brief staring spells, brought on by hyperventilation | Childhood absence epilepsy |
| 15-year-old drops her cup at breakfast and had a tonic-clonic seizure after a late night | Juvenile myoclonic epilepsy |
| 8-year-old with nocturnal facial twitching and drooling, unable to speak | Self-limited epilepsy with centrotemporal spikes |
| Toddler goes pale and floppy after bumping his head, recovers in 30 seconds | Reflex anoxic seizure |
| Collapse while swimming with a family history of sudden death | Cardiac syncope (long QT) — ECG |
| Early-morning headache and vomiting with new ataxia | Posterior fossa tumour |
| Ex-premature baby, stiff legs with scissoring at 18 months | Spastic diplegic cerebral palsy |
| Hand preference at 8 months | Hemiplegic cerebral palsy |
| Rapid head growth, bulging fontanelle and sunsetting eyes | Hydrocephalus |
| Seven café-au-lait patches and axillary freckles | Neurofibromatosis type 1 |
| Ash leaf macules and infantile spasms | Tuberous sclerosis |
| Floppy alert baby with tongue fasciculations and absent reflexes | Spinal muscular atrophy type 1 |
| 4-year-old boy climbs up his legs to stand; big calves; CK 18,000 | Duchenne muscular dystrophy |
| Unsteady well toddler 2 weeks after chickenpox | Post-infectious cerebellitis |
| Girl loses hand skills and speech at 15 months with hand-wringing | Rett syndrome |
| 5-year-old limping after a cold, afebrile and well | Transient synovitis |
| Febrile toddler won't weight-bear, WCC 16, ESR 60 | Septic arthritis |
| 6-year-old boy with a painless limp for 6 weeks and a flattened femoral head | Perthes disease |
| Overweight 13-year-old with knee pain and loss of hip internal rotation | SUFE |
| Positive Ortolani test at the newborn check | DDH — ultrasound within 2 weeks |
| 3-year-old girl with a swollen knee for 2 months and positive ANA | Oligoarticular JIA — eye screening |
| Daily spiking fevers with a salmon-pink rash | Systemic JIA |
| Sporty 13-year-old with a tender lump below the kneecap | Osgood–Schlatter disease |
| Teenager with night pain around the knee and a sunburst X-ray | Osteosarcoma |
| 2-year-old won't use her arm after being swung by the hands | Pulled elbow |
| 3-month-old with posterior rib fractures | Non-accidental injury |
Exam-style Scenarios
1. A 2-year-old had a 4-minute generalised seizure at home with a temperature of 39.4 °C. He is now alert and playing, with a red ear drum and no rash or neck stiffness.
Answer: Simple febrile seizure with acute otitis media.
- No EEG or anticonvulsant; treat the infection.
- Antipyretics for comfort only — they don't prevent recurrence.
- Recurrence about 1 in 3; small rise in epilepsy risk; first-aid advice and call 999 if over 5 minutes.
2. A 7-month-old has clusters of sudden forward jerks on waking for 2 weeks and has stopped rolling and smiling. He has three pale patches on his back.
Answer: Infantile spasms, probably due to tuberous sclerosis.
- Urgent EEG (hypsarrhythmia) and paediatric neurology review.
- Vigabatrin first-line in tuberous sclerosis (prednisolone with vigabatrin otherwise).
- MRI brain, echocardiogram (rhabdomyomas), renal ultrasound, genetic testing.
3. A 6-year-old has had a limp and right hip pain for 2 days after a cold. Temperature 37.6 °C, she can walk with a limp, CRP 8.
Answer: Transient synovitis.
- Kocher criteria low (bearing weight, no high fever).
- Rest, ibuprofen, review in 48 hours.
- Return urgently if fever, worsening pain or unable to weight-bear (septic arthritis); investigate if over 2 weeks (Perthes).
4. A 13-year-old boy (BMI 31) has had left knee pain for 3 weeks and now limps. The left leg lies externally rotated and internal rotation of the hip is lost.
Answer: Slipped upper femoral epiphysis.
- X-ray both hips — AP and frog-leg lateral.
- Non-weight bearing; urgent orthopaedic referral for pinning.
- Watch the other hip (often bilateral); risk of avascular necrosis.
5. A 4-year-old boy is slow running and falls often. He gets up from the floor by pushing on his thighs, and his calves are large.
Answer: Duchenne muscular dystrophy (Gowers' sign, calf pseudohypertrophy).
- CK (very high); genetic testing for dystrophin deletions.
- Neuromuscular team: corticosteroids, physiotherapy, cardiac and respiratory monitoring.
- Genetic counselling — carrier testing for mother and sisters.
Key Points
- Febrile seizures (6 months to 5 years): find the fever source, exclude meningitis; antipyretics don't prevent them; 1 in 3 recur.
- Epilepsy is a clinical diagnosis — ask for video; ECG in all first seizures.
- Girls who could become pregnant: lamotrigine or levetiracetam rather than valproate.
- Absence epilepsy: ethosuximide. JME: valproate (boys), levetiracetam (girls). Avoid carbamazepine in both.
- Infantile spasms with regression: urgent EEG; prednisolone and vigabatrin (vigabatrin first in tuberous sclerosis).
- Status epilepticus: treat at 5 minutes — glucose, lorazepam or buccal midazolam, repeat once, then levetiracetam or phenytoin.
- Headache red flags: waking from sleep, morning vomiting, neurological signs, behaviour change, growth failure — urgent imaging.
- Cerebral palsy: non-progressive; most spastic; early hand preference is a red flag; MDT care, baclofen and botulinum toxin.
- Rapid head growth, bulging fontanelle and sunsetting eyes — hydrocephalus; shunt blockage is an emergency.
- Folic acid 400 micrograms (5 mg if high risk) prevents neural tube defects.
- Floppy infant: central (floppy, not weak, brisk reflexes) versus peripheral (floppy and weak, absent reflexes).
- Check CK in any boy not walking by 18 months — Duchenne.
- Limping under 3, or with fever, needs urgent assessment; always examine the hip in knee pain.
- Kocher criteria for septic arthritis: non-weight bearing, fever over 38.5, ESR over 40, WCC over 12.
- Perthes: boys 4–8; SUFE: obese teens 10–15 — non-weight bearing and pinning.
- DDH: Barlow and Ortolani; ultrasound for abnormal examination or risk factors; Pavlik harness.
- Oligoarticular JIA: ANA-positive young girls — slit-lamp screening for uveitis.
- Growing pains are bilateral, at night, with no limp and a normal examination — anything else needs investigation.
- Fractures in non-mobile babies, posterior rib and metaphyseal fractures suggest abuse.
Guidelines and Further Reading
- NICE NG217: Epilepsies in children, young people and adults
- NICE CKS: Febrile seizure
- APLS (Resuscitation Council UK / ALSG): Status epilepticus algorithm
- MHRA: Valproate use by women and girls — and men (Pregnancy Prevention Programme)
- NICE CG150: Headaches in over 12s
- NICE NG12: Suspected cancer — recognition and referral
- NICE NG62: Cerebral palsy in under 25s
- NHS Newborn and Infant Physical Examination (NIPE) screening programme standards
- NICE CKS: Acute childhood limp
- British Society for Paediatric and Adolescent Rheumatology: JIA guidance
- BNF for Children — for current doses
8. The Acutely Unwell Child and Emergency Care
Supplementary MLA teaching content added for topics not covered as standalone sections in the seven uploaded articles.
Paediatric ABCDE and Recognition of Deterioration
First principle: In a sick child, clinical appearance and trajectory take priority over a single observation. Assess airway, breathing, circulation, disability and exposure; record age-appropriate observations and use the local paediatric early warning system (PEWS).
- Airway: Look for stridor, obstruction, reduced consciousness and a weak cry; involve senior airway expertise early.
- Breathing: Record rate, recession, grunting, oxygen saturation, auscultation and fatigue. Slowing respiratory effort with drowsiness can be a pre-arrest sign.
- Circulation: Heart rate, capillary refill, skin temperature, pulses, blood pressure, urine output. Hypotension is often late in childhood shock.
- Disability: AVPU/GCS, bedside glucose, pupil findings, seizures and fontanelle in infants.
- Exposure: Temperature, rash, injuries and signs of dehydration; avoid hypothermia.
Action: Call for help early, provide oxygen when indicated, obtain access and reassess after every intervention. Ask parents whether this behaviour is unusual; they often recognise deterioration before physiological thresholds are crossed.
Paediatric Shock and Intravenous Fluids
Shock is inadequate tissue perfusion, not simply low blood pressure. Causes include hypovolaemia (gastroenteritis or bleeding), sepsis, anaphylaxis, cardiac dysfunction and obstruction. Look for tachycardia, prolonged capillary refill, altered behaviour, weak peripheral pulses, reduced urine output and rising lactate.
- Investigations: Bedside glucose, blood gas/lactate, FBC, electrolytes, cultures where indicated; seek the underlying cause.
- Fluid resuscitation in suspected sepsis: NICE NG254 recommends an isotonic crystalloid 10 mL/kg bolus (maximum 250 mL) for children under 16 who need one, over less than 10 minutes, followed by immediate reassessment. Smaller volumes may be needed with cardiac or renal disease.
- Repeated boluses: Reassess breathing, lung findings, hepatomegaly, perfusion and haemodynamics; involve PICU early rather than giving unlimited fluids.
- Maintenance fluid: Isotonic solutions are preferred for routine IV maintenance to avoid hospital-acquired hyponatraemia; calculate weight-based requirements, add glucose where appropriate, and monitor electrolytes.
Clinical distinction: Fluid requirements differ in DKA, trauma, heart disease and severe malnutrition; use the condition-specific UK paediatric pathway.
Anaphylaxis in Children
Rapid onset airway, breathing or circulatory problems after allergen exposure should be treated as anaphylaxis, even without a rash. Mast-cell mediators cause vasodilatation, fluid extravasation, airway oedema and bronchospasm.
- Recognise: Stridor, voice change, wheeze, collapse, hypotension, reduced consciousness; skin changes may be absent.
- Immediate treatment: Call for emergency assistance; give intramuscular adrenaline into the anterolateral thigh using the current Resuscitation Council UK age-based dose and repeat after 5 minutes if ABC problems persist.
- Position: Lie flat with legs raised when appropriate; allow sitting with legs outstretched if severe breathing difficulty. Avoid sudden standing.
- Support: Oxygen, monitoring and IV crystalloid for shock; specialist adrenaline infusion for refractory cases.
- Aftercare: Observation tailored to severity, an individual action plan, appropriate auto-injectors and allergy referral.
Key pitfall: Antihistamines and corticosteroids do not replace early IM adrenaline.
Poisoning and Accidental Ingestion
Most accidental ingestions occur in young children; deliberate overdose is more common in adolescents and must prompt psychosocial assessment. The initial approach is ABCDE, bedside glucose and identifying the substance, estimated dose, timing and formulation.
- Immediate priorities: Manage airway or seizures, ECG for cardiotoxic drugs, and contact the UK National Poisons Information Service through TOXBASE (via local clinical access).
- Paracetamol: Refer urgently for protocol-based risk assessment and acetylcysteine when indicated; do not attempt a home antidote.
- Button batteries and magnets: Potentially serious even if the child looks well; urgent imaging/specialist assessment is required for suspected ingestion.
- Iron, opioids, tricyclics and salicylates: Can be life-threatening; use substance-specific pathways and avoid routine induced vomiting.
- Safeguarding: Repeated unexplained ingestions, inconsistent histories or adolescent self-harm require an appropriate safeguarding and mental health review.
Acute Upper Airway Obstruction and Epiglottitis
Inspiratory stridor indicates upper airway narrowing. Croup is common, but sudden choking, severe allergy, retropharyngeal infection and supraglottitis (epiglottitis) are time-critical alternatives.
- Croup: Barking cough, hoarse voice and stridor after coryza; see the Respiratory and Cardiac Disease section for steroid treatment and escalation.
- Supraglottitis: Toxic appearance, drooling, dysphagia, muffled voice, fever and tripod posture, often with little cough.
- Do not distress the child: Avoid forcing a throat examination with a tongue depressor when epiglottitis is suspected.
- Management: Keep in the preferred position with a parent, call senior paediatric/anaesthetic/ENT staff immediately and prepare controlled airway management. Give antimicrobials once the airway plan is secure.
Clinical pearl: A relatively quiet child with worsening stridor and reduced air movement may be more unwell than a child coughing loudly.
Burns and Accidental Injury
Assess injury mechanism, first aid, pain, hydration, anatomical site, depth and surface area. Burns involving face, airway, hands, feet, genitalia, major joints or circumferential areas require early specialist discussion.
- First aid: Remove the heat source, cool a thermal burn with cool running water for 20 minutes when feasible, remove jewellery and cover with a clean non-adherent dressing; prevent hypothermia.
- Red flags: Smoke inhalation, voice change or facial burns, electrical/chemical injury, circumferential burns, large area, shock.
- Safeguarding: Check whether the described mechanism fits the child's developmental stage and the burn pattern; immersion burns or patterned injuries merit careful evaluation.
- Management: Age/weight-based analgesia, appropriate tetanus assessment, fluid resuscitation where indicated and referral to a burns service.
9. Paediatric Haematology and Oncology
Supplementary MLA teaching content added for topics not covered as standalone sections in the seven uploaded articles.
Anaemia in Children
Anaemia should be interpreted using age-specific haemoglobin and MCV reference ranges. Reduced haemoglobin may result from impaired production, bleeding or increased destruction; growth, nutrition and family history are central to the differential.
- Microcytosis: Iron deficiency (often excess cow's milk intake, insufficient iron, blood loss), thalassaemia; assess ferritin with inflammatory markers where needed.
- Normocytosis: Recent bleeding, inflammation, renal disease or haemolysis; reticulocyte count separates underproduction from loss/destruction.
- Macrocytosis: B12/folate deficiency, marrow disease, hypothyroidism or medication effects.
- Urgent concern: Pallor with petechiae, bruising, bone pain, fever, lymphadenopathy or hepatosplenomegaly warrants prompt FBC/film and specialist assessment for marrow disease.
Treatment: Identify the cause; use diet advice and oral iron with a documented response plan when iron deficiency is confirmed. Avoid assuming that all childhood microcytosis is nutritional.
Sickle Cell Disease and Acute Complications
Sickle haemoglobin polymerises when deoxygenated, deforming red cells and causing haemolysis, microvascular occlusion and progressive organ injury. Screening detects affected babies early; infection prevention and specialist follow-up reduce mortality.
- Common presentations: Painful vaso-occlusive episodes, dactylitis, jaundice, gallstones, splenic sequestration, stroke and acute chest syndrome.
- Fever: Functional asplenia creates risk of overwhelming bacterial infection; prompt assessment, cultures and parenteral antibiotics may be needed.
- Acute chest syndrome: New pulmonary infiltrate with respiratory symptoms, fever and/or hypoxia; urgent admission, oxygen as required, antibiotics, analgesia and specialist consideration of transfusion.
- Splenic sequestration: Sudden pallor, shock, splenomegaly and falling Hb—resuscitate and involve haematology urgently.
- Long-term: Vaccinations, penicillin prophylaxis in childhood, hydroxycarbamide for selected patients, stroke surveillance and transition planning.
Thrombocytopenia, ITP and Purpura
Immune thrombocytopenia (ITP) often follows a viral infection and presents in an otherwise well child with petechiae and bruising. It causes isolated thrombocytopenia, with otherwise reassuring examination and blood film.
- Distinguish emergencies: Fever, shock, non-blanching rash and rapidly progressive illness suggest meningococcal sepsis/DIC; anaemia, bone pain, organomegaly or abnormal white cells suggest marrow disease.
- Assessment: FBC and film; review medicines, examination, bleeding symptoms and head injury.
- Management: Many children need observation rather than treatment; active mucosal bleeding or significant risk may need specialist-directed immunoglobulin or corticosteroids.
- Safety advice: Avoid activities with major head trauma risk when counts are very low; give clear bleeding and head-injury safety-netting.
Bleeding Disorders and Coagulopathy
Bleeding into joints or muscles suggests a coagulation factor deficiency; recurrent mucosal bleeding points more towards platelet or von Willebrand disorders. Ask about family history, circumcision/surgical bleeding, menorrhagia in adolescents and medicines.
- Haemophilia A/B: X-linked deficiencies of factors VIII/IX; haemarthroses, deep bleeding and typically prolonged APTT.
- Von Willebrand disease: Common inherited bleeding disorder causing epistaxis, bruising and mucosal bleeding; tests may need repeating.
- DIC: Acquired consumption of platelets and clotting factors in severe sepsis, trauma or malignancy; treat the cause and provide specialist blood product support.
- Urgent priorities: Suspected intracranial bleeding or major trauma in a child with known haemophilia—contact the haemophilia centre and give factor replacement without delaying for scans.
Leukaemia in Children
Acute lymphoblastic leukaemia (ALL) is the most common childhood cancer. Marrow infiltration causes anaemia, neutropenia and thrombocytopenia, and leukaemic cells may infiltrate bone, lymph nodes and organs.
- Presentation: Persistent fever, lethargy, pallor, unexplained bruises/petechiae, recurrent infections, bone or limb pain, limp, lymphadenopathy and hepatosplenomegaly.
- Investigations: Urgent FBC and film, LDH, urate and metabolic tests; urgent discussion with paediatric haematology when suspected.
- Diagnosis: Marrow and immunophenotyping with genetic studies; specialist treatment includes risk-adapted chemotherapy and supportive care.
- Emergency complications: Infection, bleeding, tumour lysis syndrome and, with some subtypes, hyperleucocytosis.
Clinical pearl: A child with a persistent limp and normal early X-ray can have leukaemia; do not ascribe prolonged night pain and systemic symptoms to growing pains.
Lymphoma and Persistent Lymphadenopathy
Reactive cervical nodes are common during childhood infections. Concerning features are progressive, firm or fixed lymphadenopathy, supraclavicular nodes, weight loss, night sweats, persistent fever, hepatosplenomegaly or unexplained cytopenias.
- Hodgkin lymphoma: Often painless cervical/supraclavicular nodes and sometimes mediastinal disease; B symptoms may occur.
- Non-Hodgkin lymphoma: May progress rapidly, with abdominal masses, mediastinal obstruction or extranodal disease.
- Investigation: FBC/film, inflammatory markers, LDH and targeted imaging; biopsy through the paediatric oncology pathway when indicated.
- Emergency: A mediastinal mass with stridor or orthopnoea can cause collapse during sedation—avoid unnecessary supine positioning and seek anaesthetic/oncology planning.
Solid Childhood Tumours and Retinoblastoma
Childhood cancers may present with symptoms rather than an obvious mass. Important diagnoses for MLA include Wilms tumour, neuroblastoma, retinoblastoma, primary brain tumours and bone sarcomas.
- Wilms tumour: Often a painless abdominal mass in a preschool child; haematuria or hypertension can occur. Avoid vigorous palpation.
- Neuroblastoma: Adrenal or sympathetic tumour; abdominal mass, weight loss, bone pain, sometimes periorbital bruising or catecholamine-related symptoms.
- Retinoblastoma: Leukocoria (white pupil reflex) or new squint—requires urgent ophthalmology assessment.
- Brain tumour: Progressive morning headache, vomiting, new neurological signs, change in gait or vision.
- Bone tumour: Persistent localised/night bone pain, swelling or unexplained limp.
Persistent red flags warrant urgent paediatric assessment and a suspected cancer pathway where appropriate.
Febrile Neutropenia and Oncological Emergencies
A child receiving systemic cancer treatment may develop neutropenic sepsis with minimal localising signs. Fever or clinical deterioration after chemotherapy is a medical emergency even if the child appears relatively well.
- Immediate action: ABCDE, cultures (including central lines if present), FBC and electrolytes, prompt broad-spectrum IV antibiotics according to the local paediatric oncology protocol; do not wait for neutrophil count confirmation if suspicion is high.
- Other emergencies: Tumour lysis syndrome (hyperkalaemia, hyperphosphataemia, hypocalcaemia, AKI), spinal cord compression and mediastinal obstruction.
- Treatment considerations: Specialist isolation/infection advice, fluid and electrolyte monitoring, transfusion support and early intensive care when deterioration occurs.
10. Safeguarding, Behaviour and Adolescent Health
Supplementary MLA teaching content added for topics not covered as standalone sections in the seven uploaded articles.
Safeguarding and Recognising Maltreatment
Safeguarding is part of routine paediatric practice, not a diagnosis reserved for obvious injuries. Neglect, physical, emotional and sexual abuse can present through poor growth, repeated attendances, behavioural change or inconsistent explanations.
- History: Record who provided it, exact words, timing, developmental stage and any delay in presentation; do not conduct a leading or forensic interrogation.
- Examination: Document injuries objectively, with body maps and photographs according to local policy; assess the child's overall safety and wellbeing.
- Action: Discuss promptly with the named safeguarding professional/paediatric consultant; follow local multi-agency referral procedures. Immediate danger calls for emergency protective action.
- Professional duties: Act in the child's best interests, share necessary information lawfully, record reasoning and communicate sensitively with carers unless doing so increases risk.
Clinical pearl: An explanation should be compatible with the child's motor abilities, not merely plausible for an older child.
Bruising, Fractures and Non-accidental Injury
Bruising in a non-mobile infant is unusual and requires careful assessment; accidental bruises in mobile children cluster over bony prominences. Patterned injuries, multiple ages of bruising or fractures without a plausible mechanism raise safeguarding concern.
- Suspicious sites: Ears, neck, torso, genital area, soft cheeks and protected areas; consider slap or grip patterns.
- Fractures: Posterior rib, metaphyseal and certain complex fractures may be concerning, but interpretation must consider age, mechanism and underlying bone disease.
- Do not diagnose abuse from a bruise alone: Consider coagulation disorders, dermatological mimics, birthmarks and other explanations; specialist assessment is essential.
- Further tests: Safeguarding team advice regarding skeletal survey, neuroimaging and ophthalmic assessment in infants as indicated.
Consent, Capacity and Confidentiality in Young People
Competence in children depends on the decision and the individual, not only chronological age. Under-16s who demonstrate sufficient understanding and intelligence for a particular decision may be Gillick competent; contraception advice also follows Fraser guidelines.
- Young people aged 16–17: Generally presumed able to consent to treatment, while refusal and safeguarding law can create additional complexities.
- Confidentiality: Explain its usual protection and its limits when there is serious risk of harm, abuse or exploitation.
- Communication: Speak directly with the young person, offer time without carers, check understanding and document the consent process.
- Disagreement: Seek senior, safeguarding and legal advice for high-stakes disputes; parental responsibility does not remove the child's voice.
Autism Spectrum Disorder
Autism is a neurodevelopmental difference involving social communication and interaction, together with restricted or repetitive patterns, sensory differences or strong interests. Presentations vary with age, language ability, masking and coexisting intellectual disability.
- Clues: Reduced reciprocal conversation, differences in non-verbal communication, inflexible routines, sensory sensitivities, intense interests and social fatigue.
- Assessment: Developmental history from child, carers and school, observation across settings, hearing and language evaluation where indicated; referral to a multidisciplinary neurodevelopmental service.
- Support: Reasonable adjustments, clear communication, school support and management of coexisting anxiety, sleep difficulties and ADHD.
There is no medication that treats the core features of autism; treatment should target specific associated needs.
Attention Deficit Hyperactivity Disorder
ADHD is characterised by persistent developmentally inappropriate inattention and/or hyperactivity–impulsivity associated with impairment in more than one setting. Symptoms are not explained simply by poor discipline, and may be less outwardly disruptive in girls.
- Assessment: Developmental, school and family history, functional impairment and screening for sleep disorders, anxiety, trauma and autism.
- Management: Environmental changes, parent/school support and structured behavioural interventions; medication is specialist-initiated when appropriate, with cardiovascular, growth and adverse-effect monitoring.
- Common trap: A child can be academically able and still have ADHD; evaluate impairment and context rather than grades alone.
Eating Disorders in Children and Adolescents
Eating disorders can develop before adulthood and may present as weight loss, faltering growth, amenorrhoea, food avoidance, compulsive exercise, vomiting or social withdrawal. Body mass index alone is unreliable in assessing severity in a growing child.
- History: Weight and growth trajectory, eating patterns, compensatory behaviours, physical activity, mood, bullying and family concerns.
- Medical risk: Bradycardia, hypotension, hypothermia, dehydration, electrolyte disturbance, ECG changes and refeeding risk need urgent assessment.
- Management: Early referral to a specialist community eating disorder service, family-based approaches where appropriate and joint medical/mental health monitoring.
- Red flag: Rapid weight loss with cardiovascular compromise requires emergency admission assessment even if the current weight is not low.
Self-harm, Suicidal Thoughts and Adolescent Crisis
Respond to self-harm with a compassionate, non-judgemental assessment of immediate injury or poisoning, the young person's circumstances and their safety. Ask directly about suicidal thoughts, plans, access to means, exploitation, abuse and supportive relationships.
- Immediate priorities: Treat overdose or injury, ensure appropriate observation and environment, involve paediatrics and mental health crisis teams where indicated.
- Psychosocial assessment: Specialist assessment should follow each episode of self-harm, rather than reliance on a numerical 'risk score'.
- Aftercare: Collaborative safety plan, family involvement where appropriate, clear crisis contacts and timely follow-up.
- Confidentiality: Explain that serious safety concerns may require proportionate information sharing.
Adolescent Health, Substance Use and Transition
Adolescents benefit from confidential, developmentally appropriate consultations that consider school, relationships, mood, substance use, sleep, sexual health and online safety. Use an open framework such as HEEADSSS when clinically appropriate rather than making assumptions.
- Sexual health: Consent, exploitation risk, contraception and STI testing where appropriate.
- Substances: Assess alcohol, vaping, drugs and their interaction with mental health or chronic illness.
- Long-term disease: Transition from paediatric to adult services should be planned progressively, preserving disease-specific education and access to support.
Clinical pearl: A short private conversation with the young person can uncover concerns not disclosed in front of carers.
11. Eyes, Ears, Skin and Allergy
Supplementary MLA teaching content added for topics not covered as standalone sections in the seven uploaded articles.
Atopic Eczema in Children
Atopic eczema causes itchy, relapsing inflammation and skin barrier dysfunction. In infants it often affects cheeks and extensor surfaces; older children commonly develop flexural disease.
- Baseline treatment: Liberal emollients, soap substitutes, avoidance of irritants and appropriate topical corticosteroids during flares.
- Infected eczema: Weeping or crusting may be bacterial; fever or rapidly spreading painful punched-out lesions suggest eczema herpeticum and require urgent antiviral assessment.
- Consider: Sleep impact, social effects, atopy and treatment technique rather than escalating potency alone.
- Referral: Severe disease, recurrent infection, diagnostic uncertainty or poor control despite optimised therapy.
Impetigo, Scabies and Childhood Skin Infection
Impetigo produces superficial honey-coloured crusts, often around the nose and mouth; it is contagious and commonly due to Staphylococcus aureus or streptococci. Limited uncomplicated disease can be managed with local measures and guideline-directed topical treatment; widespread or systemic infection needs oral antibiotics.
- Scabies: Intense nocturnal itch, burrows and affected contacts; infants may have scalp, palm or sole lesions. Treat close contacts simultaneously and explain environmental measures.
- Cellulitis: Spreading erythema, warmth and tenderness; assess fever, depth, rapid progression and orbital involvement.
- Never miss: Purpura with systemic illness, necrotising infection or eczema herpeticum.
Food Allergy and Cow’s Milk Protein Allergy
IgE-mediated food allergy typically causes symptoms within minutes to two hours (urticaria, vomiting, wheeze or anaphylaxis). Non-IgE reactions may be delayed and mainly gastrointestinal, such as selected cases of cow's milk protein allergy.
- History: Exact food, quantity, timing, reproducibility, cofactors and growth; distinguish allergy from intolerance.
- Testing: Skin prick or specific IgE tests guided by the history—not broad unselected screening panels.
- Management: Dietetic advice, nutritional adequacy, written emergency plan and specialist referral for systemic reactions or multiple food exclusions.
- Infants: Avoid unnecessary prolonged elimination diets and use planned reintroduction/challenge when appropriate and safe.
Acute Otitis Media and Mastoiditis
Acute otitis media commonly follows a viral upper respiratory infection. Ear pain, fever and an inflamed bulging tympanic membrane support diagnosis; many otherwise well children recover without antibiotics.
- Management: Analgesia first; consider delayed or immediate antibiotics according to age, severity, bilateral disease in younger children and otorrhoea, following NICE guidance.
- Mastoiditis: Fever, increasing otalgia, postauricular redness/tenderness and forward displacement of the pinna—urgent ENT assessment and IV antibiotics.
- Complications: Facial nerve palsy, intracranial extension and persistent hearing problems.
Sore Throat, Tonsillitis and Quinsy
Most childhood sore throats are viral; examine hydration, swallowing, respiratory work, rash and systemic illness. Group A streptococcal pharyngitis is more likely with fever, tonsillar exudate, tender anterior nodes and absence of cough; clinical scores guide antibiotic decisions.
- Scarlet fever: Fever, sore throat, sandpaper-like rash, strawberry tongue; follow current UKHSA/NICE treatment and notification guidance.
- Peritonsillar abscess (quinsy): Unilateral severe sore throat, trismus, muffled voice and uvular deviation—urgent ENT assessment.
- Airway red flags: Drooling, stridor, inability to swallow saliva and neck swelling suggest deep infection/supraglottitis.
Squint, Amblyopia and Visual Red Flags
Children may not recognise or report unilateral visual loss. A persistent squint can lead to amblyopia, in which reduced visual input during development produces lasting impairment if not corrected promptly.
- Assessment: Vision appropriate to age, cover test, eye alignment, pupils and red reflex.
- Urgent referral: New squint with neurological signs, absent or white red reflex (possible cataract/retinoblastoma), painful red eye with photophobia or suspected penetrating injury.
- Management: Orthoptic/ophthalmology review, refractive correction and occlusion or penalisation for amblyopia when indicated.
Hearing Loss and Recurrent Ear Problems
Hearing impairment may be congenital, sensorineural or conductive from middle-ear fluid (otitis media with effusion, 'glue ear'). It can present as speech delay, inattentiveness or school difficulties.
- Assessment: Newborn hearing screening status, speech/language history, otoscopy and age-appropriate audiology.
- Glue ear: Many cases resolve spontaneously; persistent bilateral loss affecting function warrants audiological follow-up and discussion of interventions.
- Urgent issues: Sudden sensorineural hearing loss, facial weakness, mastoiditis or neurological signs need prompt specialist assessment.
Down Syndrome and Common Chromosomal Conditions
Trisomy 21 may be suspected from characteristic neonatal findings, hypotonia and congenital anomalies; confirm with cytogenetic testing. Associated problems include congenital heart disease, hearing/vision impairment, hypothyroidism, sleep-disordered breathing and developmental needs.
- Health surveillance: Growth, cardiac evaluation, thyroid tests, hearing and vision, sleep and developmental support according to specialist guidance.
- Other syndromic clues: Dysmorphism with short stature, congenital heart disease or unusual developmental patterns may prompt a clinical genetics referral.
- Communication: Offer accurate, supportive information, avoid assumptions about ability and discuss investigations and long-term care with families.
Metabolic Disorders and the Deteriorating Infant
Inherited metabolic disorders can present after a symptom-free interval with vomiting, poor feeding, lethargy, seizures, acidosis, hypoglycaemia or encephalopathy. Illness or fasting may precipitate catabolism and accumulation of toxic metabolites.
- Red flags: Recurrent unexplained collapse, consanguinity, sibling death, unusual odours, hepatomegaly, high anion gap acidosis or unexplained hyperammonaemia.
- Initial investigations: Glucose, blood gas, ketones, lactate, ammonia, LFTs and urine; save samples before treatment where feasible, without delaying resuscitation.
- Management: Treat hypoglycaemia and shock, stop catabolism with specialist-directed glucose/fluids, and discuss urgently with a paediatric metabolic service.
Clinical pearl: A seriously unwell infant with little or no ketosis despite hypoglycaemia may have a fatty-acid oxidation defect.