Schizencephaly: Causes, Symptoms, and Treatments


What is Schizencephaly?

Schizencephaly is a rare congenital cerebral malformation characterized by linear clefts in one or both hemispheres, extending from the lateral ventricle to the surface of the pial cortex, and which leads to various neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.

Causes of Schizencephaly

Although the exact cause of schizencephaly is unknown, the majority of cases are not considered as a congenital disease. Schizencephaly rarely affects more than one family member.

However in some cases, schizencephaly may be hereditary. Both genetic inheritance patterns are autosomal dominant and autosomal recessive are the main conditions of schizencephaly.

Genetic history is one of the etiologies and the main cause of schizencephaly. Some patients with schizencephaly have been found to have mutations in the EMX2 gene, some researchers believe that this cause is very rare.

Another study reported the detection of mutations in the SIX3 and SHH genes. Although the cause is unknown, a genetic component has been found in sibling relationships in family chains.

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Symptoms of Schizencephaly

Growth retardation is a common symptom of schizencephaly. Motor disorders correlate with the degree of anatomic abnormalities, especially when cleftbilateral clefts.

Seizures are also relatively common although the severity and prevalence of seizures do not seem to depend on the level of anatomic involvement. Other symptoms such as:

  • Small abnormal head (Microsephaly)
  • Intellectual disability
  • Partial or complete paralysis
  • Poor muscle tone (Hypotonia)

Schizencephaly Treatments

Symptomatic therapy becomes the main therapy for the occurrence of schizencephaly which is confirmed through several imaging tests such as Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). Schizencephaly in closed clefts is difficult to identify, while large open slit shapes can be easily seen.

In some cases, schizencephaly can also be diagnosed before birth by ultrasound after 20 weeks’ gestation. If clefts are seen on ultrasound, MRI scanning in infants may be recommended to confirm the diagnosis.

Other therapies that can be used are surgery such as resection of either schizencephalic cleft only or surgery of the surrounding cleft and epileptogenic tissue. In addition, temporal or frontotemporal lobectomy can be performed.

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Forward observations from treatment of schizencephaly vary depending on the size and location of the cleft and the degree of disability.

For example, children with a small cleft in one hemisphere may experience paralysis on one side of the body and little or no intellectual disability. While clefts in both halves can cause quadriplegia (paralysis of both arms and legs) and more severe intellectual disability.

How to Prevent Schizencephaly?

Until now it is not known how to prevent the occurrence of schizencephaly. This is associated with genetic disorders in one of the family members who carry a gene mutation that can cause the emergence of the disease.

Genetic examination can be done if there is a tendency for the occurrence of schizencephaly. One of them is the Genetic Testing Registry (GTR) providing information about genetic testing for the condition.


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