Familial schizencephaly: further delineation of a rare disorder.
نویسندگان
چکیده
We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizencephaly.
منابع مشابه
A Case of Schizencephaly and Septo-Optic Dysplasia Presenting with Anterior Encephalocele
Schizencephaly is a rare central nervous system disorder with variable presentations. Here we report a patient with a huge bilateral schizencephaly and septo-optic dysplasia presenting with anterior encephalocele.
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BACKGROUND Schizencephaly is one of the most severe forms of neuronal migration defects and is an extremely rare cause of seizure disorder. CASE DETAILS We report a case of bilateral schizencephaly (Type II) presenting as seizure disorder since birth. DISCUSSION This case is rare because of the relatively benign features compared to other reported cases. CONCLUSION Compared to other cases...
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Schizencephaly is a rare congenital anomaly of the brain, characterized by formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It often manifests with partial seizures, mental retardation and hemiparesis. Only two cases of schizencephaly associated with psychosis have been reported in the literature. A patient of schizencephaly, who had bipolar affective disorder i...
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Schizencephaly is a rare disorder of brain development resulting in the formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It is often accompanied by partial seizures, mental retardation, and hemiparesis. Two patients are described with clear psychotic symptoms with either unilateral or bilateral schizencephaly. The implications of the association between schizenc...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 32 3 شماره
صفحات -
تاریخ انتشار 1995