Encephalomeningocele

From WikiMD's Wellness Encyclopedia

Encephalomeningocele Encephalomeningocele is a rare congenital malformation characterized by the herniation of brain tissue and meninges through a defect in the skull. This condition is a type of neural tube defect and is associated with significant morbidity and mortality.

Etiology[edit | edit source]

Encephalomeningocele occurs due to a failure in the closure of the neural tube during embryonic development. The exact cause is not well understood, but it is believed to involve a combination of genetic and environmental factors. Risk factors may include maternal folic acid deficiency, exposure to certain teratogens, and genetic predispositions.

Pathophysiology[edit | edit source]

The defect in the skull allows for the protrusion of brain tissue and meninges, forming a sac-like structure. This can lead to various neurological impairments depending on the size and location of the encephalomeningocele. Common sites include the occipital region, but it can also occur in the frontal or parietal areas.

Clinical Presentation[edit | edit source]

Patients with encephalomeningocele may present with a visible sac-like protrusion on the head. Neurological symptoms can vary widely and may include developmental delays, seizures, hydrocephalus, and motor deficits. The severity of symptoms often correlates with the size and location of the defect.

Diagnosis[edit | edit source]

Diagnosis is typically made through prenatal imaging, such as ultrasound or MRI, which can detect the presence of the encephalomeningocele. Postnatal diagnosis involves physical examination and imaging studies to assess the extent of the defect and associated brain abnormalities.

Treatment[edit | edit source]

The primary treatment for encephalomeningocele is surgical repair. The goals of surgery are to close the defect, prevent infection, and preserve neurological function. The timing and approach to surgery depend on the size and location of the encephalomeningocele, as well as the overall health of the patient.

Prognosis[edit | edit source]

The prognosis for individuals with encephalomeningocele varies. Factors influencing outcomes include the size and location of the defect, the presence of associated anomalies, and the timing of surgical intervention. Early diagnosis and treatment can improve outcomes, but many individuals may still experience long-term neurological impairments.

Prevention[edit | edit source]

Preventive measures include adequate maternal intake of folic acid before and during pregnancy, which has been shown to reduce the risk of neural tube defects. Genetic counseling may be recommended for families with a history of neural tube defects.

See Also[edit | edit source]

External Links[edit | edit source]

NIH genetic and rare disease info[edit source]

Encephalomeningocele is a rare disease.

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Contributors: Prab R. Tumpati, MD