Cephalocele

Cephalocele (also known as encephalocele or cranium bifidum) is a rare congenital neural tube defect characterized by a herniation of brain tissue and/or meninges through a defect in the skull. The protruding sac may contain meninges only (cranial meningocele), brain tissue and meninges (encephalocele), or brain tissue, meninges, and part of the ventricular system (encephalocystocele). Cephaloceles are classified by their anatomical location, with occipital cephaloceles being the most common form in Western populations, while frontoethmoidal (sincipital) cephaloceles are more prevalent in Southeast Asian populations. The condition primarily affects the central nervous system and craniofacial structures. Clinical features vary widely depending on the size, location, and contents of the herniation. Key symptoms may include a visible soft tissue mass on the head (often covered by skin or a thin membrane), microcephaly, hydrocephalus, intellectual disability, seizures, visual impairment, and motor deficits. Larger encephaloceles containing significant brain tissue generally carry a worse prognosis. Associated craniofacial anomalies such as hypertelorism, cleft palate, and orbital abnormalities may also be present, particularly in anterior cephaloceles. Some cases occur as part of broader syndromic conditions, including Meckel syndrome, Walker-Warburg syndrome, or amniotic band syndrome. Treatment is primarily surgical, involving repair of the skull defect and excision or repositioning of herniated tissue. The timing and approach to surgery depend on the size and location of the cephalocele, the viability of the herniated brain tissue, and the presence of associated anomalies. Hydrocephalus, when present, may require cerebrospinal fluid shunting. Long-term management often involves multidisciplinary care including neurology, neurosurgery, ophthalmology, and developmental support services. Prenatal diagnosis is possible through ultrasound and maternal serum alpha-fetoprotein screening. Folic acid supplementation before and during early pregnancy has been shown to reduce the risk of neural tube defects, including cephaloceles.

Common questions about Cephalocele