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[A case of inv dup (15) mosaic with mental retardation and symptomatic generalized epilepsy]

Y Kobayashi1, A Yoshino

  • 1Department of Behavioral Science, National Defense Medical College Research Institute, Tokorozawa, Japan.

No to Shinkei = Brain and Nerve
|May 5, 1999
PubMed

Insights

This study details a case of mosaic inverted duplication chromosome 15 syndrome, successfully managing epilepsy with phenytoin. Mosaicism may explain the absence of minor anomalies and treatable seizures in this patient.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Inv dup (15) syndrome is a chromosomal abnormality associated with developmental delays and epilepsy.
  • Previous reports describe severe symptoms including intractable epilepsy and significant intellectual disability.

Observation:

  • A case of mosaic inv dup (15) syndrome was identified.
  • The patient presented with moderate mental retardation and symptomatic generalized epilepsy.
  • Unlike previously reported cases, this patient lacked minor anomalies.

Findings:

  • Epileptic seizures in this mosaic inv dup (15) case were effectively controlled by phenytoin medication.
  • The mosaic nature of the chromosomal abnormality is suspected to contribute to the milder phenotype.

Implications:

  • This case highlights the potential for varied clinical presentations in mosaic inv dup (15) syndrome.
  • Phenotypic variability suggests that mosaicism may influence seizure treatability and the presence of dysmorphic features.
  • Further research into genotype-phenotype correlations in mosaic chromosomal abnormalities is warranted.

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