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Familial schizencephaly
A C Hilburger1, J K Willis, E Bouldin
1Department of Psychiatry and Neurology, Tulane University Medical Center, New Orleans, LA 70112.
Brain & Development
|May 1, 1993
Summary
Schizencephaly, a rare brain malformation, may have a genetic cause in some families. This study suggests reconsidering genetic counseling for affected individuals due to a familial occurrence.
Area of Science:
- Neuroscience
- Medical Genetics
- Developmental Biology
Background:
- Schizencephaly is a congenital brain malformation defined by clefts in the cerebral hemispheres.
- Its etiology remains largely unknown, and it typically occurs sporadically.
- Genetic counseling is not routinely recommended due to the presumed sporadic nature.
Observation:
- A family presented with two siblings diagnosed with schizencephaly.
- Both affected siblings exhibited hemiparesis.
- No gestational or postnatal complications were noted in either case.
- Diagnostic radiological findings confirmed schizencephaly in both siblings.
Findings:
- The occurrence of schizencephaly in two siblings suggests a potential familial aggregation.
- This familial pattern challenges the notion of purely sporadic occurrence in all cases.
- Radiological and clinical features were consistent with known schizencephaly presentations.
Implications:
- The findings raise the possibility of an underlying genetic etiology in a subset of schizencephaly cases.
- Re-evaluation of the necessity and utility of genetic counseling for schizencephaly is warranted.
- Further research into the genetic basis of schizencephaly may inform diagnostic and management strategies.