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Related Experiment Videos

Ring 14 chromosome with complex partial seizures: a case report.

Y Shirasaka1, M Ito, T Okuno

  • 1Department of Pediatrics, Faculty of Medicine, Kyoto University, Japan.

Brain & Development
|July 1, 1992
PubMed
Summary
This summary is machine-generated.

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This case report details a rare ring 14 chromosome in a child with developmental delays and complex partial seizures. It highlights potential central nervous system abnormalities associated with this genetic condition.

Area of Science:

  • Genetics and Neurology
  • Pediatric Chromosomal Abnormalities
  • Epilepsy Research

Background:

  • Ring 14 chromosome is a rare chromosomal abnormality.
  • Associated clinical features can include developmental delay and neurological issues.
  • The specific seizure types in ring 14 chromosome patients are not fully characterized.

Purpose of the Study:

  • To report the first case of ring 14 chromosome presenting with complex partial seizures.
  • To investigate the association between ring 14 chromosome and focal central nervous system abnormalities.
  • To contribute to the understanding of seizure semiology in this rare genetic disorder.

Main Methods:

  • Karyotyping to identify the ring 14 chromosome [46, XX, r(14) (P13 q32.3)].
  • Clinical assessment of developmental milestones, including verbal ability.

Related Experiment Videos

  • Computed Tomography (CT) scan of the brain to evaluate for structural abnormalities.
  • Analysis of seizure presentation.

    • Main Results:

    • A two-year-old female diagnosed with ring 14 chromosome.
    • The patient exhibited retarded development and complex partial seizures.
    • CT scan revealed a low-density area anterior to the left temporal lobe, indicating focal central nervous system abnormalities.

    Conclusions:

    • Ring 14 chromosome can be associated with focal central nervous system abnormalities.
    • Seizures in ring 14 chromosome patients are not limited to the primary generalized type.
    • This case represents the first documented instance of ring 14 chromosome co-occurring with complex partial seizures.