Makindo Medical Notes

🧠 Encephalocele is a rare neural tube defect where sac-like protrusions of brain tissue and meninges extend through openings in the skull. ⚡ Early diagnosis and timely surgical repair are critical to reduce complications and improve neurological outcomes.

ℹ️ About

• Definition: Congenital defect where brain tissue, cerebrospinal fluid (CSF), and meninges herniate through a skull defect.
• Location: 📍 Most commonly occipital, but can also appear frontally or nasofrontal (near nose/forehead).

🧬 Aetiology

• Genetic & Environmental: 🌍 Multifactorial, due to disrupted neural tube closure during early development.
• Folic Acid Deficiency: 🍃 Linked with higher risk of neural tube defects if maternal folate intake is inadequate.
• Associated Disorders: 🤝 May co-occur with syndromes or chromosomal abnormalities.

🗂️ Types

• Meningocele: Containing only CSF + meninges.
• Encephalocele: CSF + meninges + brain tissue.
• Hydroencephalocele: Includes CSF, meninges, brain tissue, and part of ventricular system.

⚙️ Pathophysiology

• ❌ Failure of neural tube closure within the first 3–4 weeks of gestation.
• 🪨 Skull defect allows brain/meningeal herniation → compression or dysfunction of neural tissue.

🩺 Clinical Features

• Visible Sac: 🎒 Protrusion on scalp (often occipital), containing CSF ± brain tissue.
• Neurological Symptoms: ⚡ Seizures, hydrocephalus, developmental delay, motor deficits.
• Craniofacial Abnormalities: 😷 Midline facial anomalies or skull deformities.

🔎 Investigations

• Prenatal Ultrasound: 📡 Detectable in 2nd trimester.
• MRI: 🖥️ Defines brain tissue involvement and defect extent.
• Genetic Testing: 🧬 Consider if syndromic features present.

🛠️ Management

• Pre-birth Counselling: 👨‍👩‍👧 Discuss prognosis, surgical options, and outcomes with parents.
• Surgical Repair: ✂️ Reduction of herniated tissue + closure of skull defect; timing depends on size, site, and symptoms.
• Supportive Care: ❤️ Includes hydrocephalus shunting, physio/OT, and seizure control if needed.

📈 Prognosis

• Variable: Depends on site, size, and brain tissue involved.
• Better Outcome: ✅ Small meningoceles (CSF + meninges only) often fare well; larger encephaloceles with brain tissue → poorer neurological prognosis.