Schizencephaly

The term schizencephaly is understood a rare cortical malformation of the brain on the basis of a homeobox gene mutation ( EMX2 ). It is included in the group of malformations of the central nervous system.

Cause

The cause could be shown that it is one arrived at a loss for the proliferation of the precursor of the neurons in the cerebral cortex responsible transcription factor. This varying degrees between the two cerebral hemispheres arise already in the prenatal ( prenatal ) development of the child cleft ( cerebral hemispheres ). If these malformations bilaterally (both sides) before, there may be a connection ( communication ) between cerebral ventricles.

Diagnosis

The diagnosis can be made nachgeburtlich means of ultrasound, magnetic resonance imaging may be helpful to verify the existence of other Gyrierungsstörungen.

Effects

It is possible that there are no specific abnormalities in the clinical picture, there are mild forms and can cause acute and severe developmental disabilities. It may be accompanied spastic quadriplegia and epilepsy occur especially in severe schizencephaly.

Children with severe malformation often have a relatively low life expectancy.

Schizencephaly occurs in about 5 out of 10 children with Septo - optikalen dysplasia ( De - Morsier syndrome) and at about 7 out of 10 children with Dandy- Walker malformation.

Frequency and inheritance

There have only been documented a few case studies. Orphanet is the frequency with 1-9 100 000. The majority can be classified as sporadic, with two brothers, the peculiarity has also been described. The mode of inheritance is autosomal dominant or recessive, the genetic locus is 10q26.1. Alleles may be present in varying degrees of shape.