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Bilateral perisylvian polymicrogyria in three generations.

R Borgatti1, F Triulzi, C Zucca

  • 1Institute of Child Neurology and Psychiatry, Scientific Institute H.S. San Raffaele, Milan, Italy.

Neurology
|June 17, 1999
PubMed
Summary

Bilateral perisylvian polymicrogyria, a brain malformation, affected 6 family members across 3 generations. The condition presented with milder symptoms in females and more severe impairment in the sole affected male, suggesting X-linked dominant inheritance.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Bilateral perisylvian polymicrogyria (BPP) is a congenital brain malformation characterized by excessive neuronal migration.
  • BPP can present with a spectrum of neurological deficits, including epilepsy and motor impairments.
  • Familial occurrence of BPP suggests a potential genetic basis.

Purpose of the Study:

  • To describe the clinical and anatomical features of bilateral perisylvian polymicrogyria in a multi-generational family.
  • To investigate the pattern of inheritance of BPP within this family.
  • To correlate phenotype severity with sex and potential genetic transmission.

Main Methods:

  • Pedigree analysis of affected individuals across three generations.
  • Clinical assessment of neurological function and developmental milestones.

Related Experiment Videos

  • Neuroimaging (anatomical findings) to confirm bilateral perisylvian polymicrogyria.

    • Main Results:

    • Six family members across three generations exhibited bilateral perisylvian polymicrogyria.
    • Affected females (5 individuals) presented with typical anatomical and mild clinical findings.
    • The single affected male showed more severe neurological impairment, consistent with X-linked dominant inheritance patterns.

    Conclusions:

    • The findings in this family are consistent with X-linked dominant inheritance of bilateral perisylvian polymicrogyria.
    • Phenotypic variability, with more severe presentation in males, is noted.
    • Further genetic studies are warranted to confirm the inheritance pattern and identify causative mutations.