O35.04

Clinical Causes: Genetic factors, including chromosomal abnormalities Environmental exposures during pregnancy, such as certain medications, chemicals, or infections Nutritional deficiencies, particularly folic acid deficiency Unknown or multifactorial causes, as the precise reason often remains unclear

Key Symptoms: Ultrasound detection of a sac-like protrusion on the fetus's head MRI findings confirming the presence of brain tissue herniation Assorted neurological symptoms may develop after birth, depending on the severity Potential signs of increased intracranial pressure or developmental delays if untreated

Diagnosis Path: Diagnosis of encephalocele typically occurs during prenatal ultrasound screenings, often around the 18-20 week mark. Advanced imaging techniques like fetal MRI can provide detailed information about the extent of brain tissue involvement and the size of the meningeal sac. Postnatal confirmation may involve physical examination and imaging studies to assess the brain's structure and plan for necessary interventions. Prenatal diagnosis allows for early planning and counseling regarding possible outcomes and treatment options.

Treatment Protocols: Management of encephalocele involves a multidisciplinary approach, often including surgical repair after birth to correct the skull defect and reduce the herniation. The timing of surgery depends on the size of the encephalocele, associated neurological impairments, and the overall health of the neonate. Additional therapies might include supportive developmental interventions and ongoing neurological assessments. Prenatal care focuses on close monitoring, addressing associated anomalies, and providing counseling to prepare parents for potential outcomes. In some cases, medical teams discuss options like pregnancy continuation or planning for specialized neonatal care immediately after delivery.