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[A case of 7q distal trisomy syndrome associated with West syndrome]

H Numabe1, N Yamada, M Ogihara

  • 1Departments of Medical Informatics, Pediatrics, Tokyo Medical University, Tokyo.

No to Hattatsu = Brain and Development
|September 18, 2001
PubMed

Insights

This study details a rare case of 7q distal trisomy syndrome in a five-year-old girl, complicated by West syndrome. It highlights the first reported instance of this specific combination, emphasizing the need for further research into genetic disorders.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • 7q distal trisomy syndrome is a rare chromosomal disorder.
  • West syndrome is a severe form of epilepsy in infants.

Observation:

  • A five-year-old girl presented with features of 7q distal trisomy syndrome, including dysmorphic characteristics.
  • Diagnosis of West syndrome was confirmed at five months old due to characteristic electroencephalogram (EEG) findings and generalized tonic seizures.
  • Karyotype analysis revealed a de novo der(20)t(7;20)(q32.3;q13.33), confirming distal trisomy 7q.

Findings:

  • This case represents the first documented instance of 7q distal trisomy syndrome co-occurring with West syndrome.
  • While other 7q32 breakpoint cases have shown epileptic seizures, the specific association with West syndrome is novel.
  • The patient exhibited modified hypsarrhythmia on EEG and frequent tonic seizures.

Implications:

  • This case expands the known clinical spectrum of 7q distal trisomy syndrome.
  • It underscores the potential link between specific chromosomal abnormalities and severe early-onset epilepsy syndromes like West syndrome.
  • Further investigation is warranted to understand the genetic mechanisms underlying this association and inform genetic counseling.

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