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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
PubMed
Summary
This summary is machine-generated.

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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.

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  • 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.