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Encephalocele

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Encephalocele, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The severity of encephalocele varies, depending on its location.

 

Location-

Over nose, forehead, back of head

 

Symptoms –

Generally there is swelling over the site with protrusion of the brain contents. Patient may have problems as

  • Hydrocephalus: Cerebrospinal fluid accumulated in the brain

  • Spastic quadriplegia: Paralysis of the limbs

  • Microcephaly: An abnormally small head

  • Ataxia: Uncoordinated muscle movement

  • Developmental delay

  • Vision problems

  • Mental and growth retardation

  • Seizures

 

Diagnosis

Clinical examination and imaging as MRI brain. Encephaloceles may be diagnosed during the prenatalperiod through routine fetal ultrasound orMRI.Amniocentesis may reveal normal to elevateda-fetoprotein and acetylcholinesteraselevels .

 

Treatment

The treatment for encephaloceles is reparative surgery, generally performed during infancy. The extent to which it can be corrected depends on the location and size of the encephaloceles; however, large protrusions can be removed without causing major disability. Surgery repositions the bulging area back into the skull, removes the protrusions, and corrects the deformities, typically relieving pressure that can delay normal brain development.

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