Schizencephaly—diagnostics and clinical dilemmas

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Schizencephaly—diagnostics and clinical dilemmas

Childs Nerv Syst. 2015; 31(4): 551–556. 
Published online 2015 Feb 18. doi: 10.1007/s00381-015-2638-1
PMCID: PMC4359713
PMID: 25690450

Abstract

Background

Schizencephaly is an uncommon congenital disorder of cerebral cortical development. The defect is characterized by the presence of a cleft in the brain extending from the surface of the pia mater to the cerebral ventricles. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, maternal trauma, or EMX2 mutations.

Method

In the present paper, the authors described difficulties in employing diagnostic imaging in differentiating between type II (open-lip) schizencephaly and much more common intracranial fluid spaces of a different origin (arachnoid cysts and hydrocephalus).

Result

In all the three cases, the treatment consisted in implantation of a shunt system; nevertheless, it should be emphasized that a surgical intervention in the third presented case (type II schizencephaly) aimed at relieving the symptoms of intracranial hypertension—a directly life-threatening condition—since shunting is not a method of treating schizencephaly itself.

Conclusions

Although proper interpretation of the character of intracranial fluid spaces is of significance for further therapeutic management, yet, the key decision as to the surgical intervention is made based on clinical presentation, predominantly on symptoms of intracranial hypertension.

Keywords: Schizencephaly, EMX2, Hydrocephalus, Arachnoid cyst