Putting a Spotlight On

Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.


Schizencephaly

What is Schizencephaly?

Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain.

What are some symptoms of Schizencephaly?

Signs and symptoms of schizencephaly may include:

Developmental delay.

Seizures.

Abnormally small head ( microcephaly )

Intellectual disability.

Partial or complete paralysis.

Poor muscle tone ( hypotonia )

Hydrocephalus.

What are the causes of Schizencephaly?

The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases.

Schizencephaly has also been linked to a variety of non-genetic factors, including young maternal age and certain medications and infections that can cause vascular disruptions (disruption of blood flow or blood supply) in a developing baby.

How is Schizencephaly diagnosed?

Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging(MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly.

In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.

 

Resources:

GARD: Genetic and Rare Diseases information Center

Healthline

Wikipedia

Physiopedia

 


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