Schizencephaly

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Schizencephaly

Schizencephaly (/ˌskɪzɪnˈsɛfəli/; from the Greek schizein, meaning "to split", and encephalon, meaning "brain") is a rare developmental birth defect characterized by abnormal slits or clefts in the cerebral hemispheres of the brain.

Definition

Schizencephaly is a form of Porencephaly, a disorder characterized by the existence of cysts or cavities within the brain's cerebral hemisphere. It is a neuronal migration disorder, meaning that during development, nerve cells (neurons) do not migrate to their correct location.

Symptoms

Symptoms of Schizencephaly can range from minimal to severe, depending on the size and location of the clefts in the brain. These may include Developmental delay, Seizures, Hydrocephalus, Spasticity, and Microcephaly.

Causes

The exact cause of Schizencephaly is unknown, but it is believed to be related to a variety of genetic and environmental factors. Some researchers believe that it may be associated with mutations in the EMX2 gene.

Diagnosis

Diagnosis of Schizencephaly often involves a combination of physical examination, medical history, and imaging tests such as MRI.

Treatment

There is no cure for Schizencephaly. Treatment is symptomatic and supportive, and may include physical therapy, medication for seizures, and in some cases, surgery to manage hydrocephalus.

Prognosis

The prognosis for individuals with Schizencephaly varies depending on the size of the clefts and the degree of neurological deficit. Some individuals may have normal intelligence, while others may have severe cognitive and physical disabilities.

See Also

External links

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