Encephalocele

Encephalocele is a congenital defect in which brain tissue and the meninges (the membranes covering the brain) herniate through an opening in the skull. It is a type of neural tube defect that develops during prenatal life.

Characteristics

• The herniated sac may contain brain tissue, cerebrospinal fluid (CSF), and meninges.

• The protrusion typically occurs at the back of the head (occipital region), but may also appear on the forehead (frontal) or other parts of the skull.

• The size and contents of the herniation determine the severity of the condition.

Causes

• The exact cause is unknown. However, risk factors include folic acid deficiency, genetic influences, and environmental exposures during pregnancy.

Symptoms

• Visible swelling or sac-like protrusion on the head

• Neurological problems (developmental delays, poor motor function)

• Hydrocephalus (accumulation of fluid in the brain)

• Seizures

• Vision and coordination problems

Diagnosis

• Prenatal diagnosis: Can be detected via ultrasound and magnetic resonance imaging (MRI) during pregnancy.

• Postnatal imaging: Used to evaluate the contents of the herniation and assess the impact on brain structures.

Treatment

• Surgical repair: The herniated sac is removed, and the skull defect is closed.

• If hydrocephalus is present, a shunt may be placed to drain excess fluid.

• In cases with significant neurological impairment, additional support and rehabilitation may be needed.

Outcome

The prognosis depends on the location, size of the encephalocele, and the extent of brain tissue involvement. Early surgical intervention can improve quality of life.