Paediatrics:Neuro MSK

• Seizures: Febrile Seizures | Epilepsy in Children | Epilepsy Syndromes | Funny Turns That Aren't Epilepsy | Status Epilepticus
• Brain, nerves and muscles: Headache in Children | Cerebral Palsy | Head Size and Hydrocephalus | Neural Tube Defects | Neurocutaneous Syndromes | The Floppy Infant | Duchenne and Other Muscle Disease | Acute Weakness and Unsteadiness | Tics and Regression
• Bones and joints: The Limping Child | Septic Arthritis and Osteomyelitis | Transient Synovitis | Perthes Disease | Slipped Upper Femoral Epiphysis | Developmental Dysplasia of the Hip | Juvenile Idiopathic Arthritis | Knee and Leg Pain in Older Children | Normal Variants and Growing Pains | Scoliosis and Talipes | Fractures and Pulled Elbow
• Revision: Drug Reference Table | Spot the Diagnosis | Exam-style Scenarios | Key Points | Guidelines and Further Reading

🧠 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.

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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).

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Epilepsy Syndromes

⚠️ 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.

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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.

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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.

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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.

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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.
• 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).

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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).

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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.

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Neurocutaneous Syndromes

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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.

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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.

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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.

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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.

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The Limping Child

• 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.

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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.

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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).

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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.

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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.

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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.

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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.

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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.

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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.

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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.