Schizencephaly

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Schizencephaly
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Specialty scores for Schizencephaly

Overview

Schizencephaly is a very rare, developmental birth defect, characterized by presence of abnormal slits or clefts in the cerebral hemispheres. Patients with clefts in both the cerebral hemispheres commonly suffer with global developmental delays, delays and abnormalities in speech and language skills, and recurrent seizures. Patients with clefts in only one cerebral hemisphere often suffer with unilateral paralysis, seizures, and near-average intelligence.

Causes:

Exact cause of schizencephaly is not known. It is believed to arise due to combination of genetic and environmental factors.

Signs and symptoms:

Patients usually display signs and symptoms of global developmental delays, abnormalities and delays in speech and language skills, and seizures. Individuals with clefts in one cerebral hemisphere are often paralyzed on one side, may have seizures, and display near-average intelligence. Other signs and symptoms may include microcephaly (abnormally small head), intellectual disability, partial or complete paralysis, muscle spasticity, and muscular hypotonia. If the clefts are bilateral, the clinical features will typically be more severe. Hydrocephalus may be present due to increased amount of accumulation of fluid in the brain. In some patients, seizure is the only manifestation, usually apparent prior to the age of three.

Diagnosis:

Provisional diagnosis of schizencephaly can be formed by medical history and clinical examination. Definitive diagnosis is made by CT & MRI of brain.

Management:

There is no definitive cure for Schizencephaly. Management consists of provisions to treat signs and symptoms. Anticonvulsant drug therapy is used for the treatment of seizures. Physical and behavioral therapy is needed as supportive management.