What is Schizencephaly?

Schizencephaly is a rare birth defect which is characterised by the abnormal slits and clefts in the cerebral hemispheres of the brain. These clefts may contain cerebrospinal fluid and may appear on either or both the sides of the brain.

Causes

The exact cause of this disorder is not known yet. But it is believed in some cases the defect may occur due to the mutations of EMX2, SIX3 and SHH genes.  It may also occur in siblings due to genetic reasons.

Symptoms of Schizencephaly

The symptoms depend upon whether the clefts are bilateral (both sides of the brain) or unilateral (only one of the brain).

The symptoms are more serious in bilateral clefts. Some of these include:

• Developmental delays
• delays in learning speech and language skills
• Problems with movement

Some of the other symptoms of schizencephaly include :

• partial or complete paralysis
• poor muscle tone
• smaller head than normal
• recurring seizures
• Fluid accumulation in the brain

Diagnosis

Magnetic Resonance Imaging is used to diagnose the disorder. The diagnosis is confirmed if the clefts are found in one or both the sides of the brain in the test.

Treatment

There is no cure for schizencephaly but treatments are done to relieve the symptoms and improve the quality of life.

Image Courtesy: Getty

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