Schizencephaly—diagnostics and clinical dilemmas

Abstract

BackgroundSchizencephaly 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.MethodIn 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).ResultIn 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.ConclusionsAlthough 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.

Schizencephaly in children: A single medical center retrospective study

“…1e4 Although several studies have reported that unilateral schizencephaly is slightly more common than bilateral clefts, 8,12 other studies have reported that bilateral schizencephalies are slightly more common or as common as unilateral cleft. 1,2 In our case series, unilateral schizencephaly was more common than bilateral schizencephalies (16:5). In addition, previous studies have reported that bilateral open-lip (60%) is more common in bilateral schizencephalies, and that open-lip (60%) is more common in unilateral cleft.…”

“…In addition, previous studies have reported that bilateral open-lip (60%) is more common in bilateral schizencephalies, and that open-lip (60%) is more common in unilateral cleft. 1,8 In our case series, bilateral open-lip (80%) occurred more commonly in bilateral clefts, whereas open-lip and closedlip occurred equally as commonly in unilateral cleft. The clinical features of schizencephaly are extremely variable.…”

“…Arachnoid cysts have also been reported to be commonly associated with schizencephaly. 1,16,19,21 In our case series, two patients with unilateral schizencephaly had arachnoid cysts. Sener suggested that the mechanism causing schizencephaly may also lead to a traction effect and splitting of the leptomeninges, resulting in the formation of an arachnoid cyst adjacent to the schizencephalic cleft.…”

“…The defect is a cell migration defect which develops between two and five months of gestation. 1 It is usually found during the evaluation of children or young adults with epilepsy, neurodevelopmental abnormalities, or an incidental finding. The pathogenesis of schizencephaly is not fully understood, but it may be due to an antenatal environmental incident or of genetic origin.…”

Tomografía computada y resonancia magnética de variantes normales/congénitas de apariencia quística y presentación frecuente en el encéfalo

“…Es el defecto congénito en el que se forman hendiduras en la corteza cerebral. [26][27][28] Se las divide en labio abierto o cerrado según la proximidad de sus labios separados por LCR 26 (►Fig. 20).…”