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Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome

Antonietta Coppola1, Krishna Chinthapalli, Peter Hammond

  • 1Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK.

Gene
|October 16, 2012
PubMed

Insights

Wolf-Hirschhorn syndrome (WHS), a genetic disorder from chromosome 4p deletion, is typically diagnosed in childhood. This case highlights adult diagnosis and persistent epilepsy, challenging typical WHS progression.

Area of Science:

  • Genetics
  • Clinical Medicine
  • Developmental Biology

Background:

  • Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder characterized by a terminal deletion on the short arm of chromosome 4 (4p-).
  • Diagnosis typically occurs in childhood due to distinctive facial features, multi-organ issues, and frequent seizures.
  • Epilepsy is a common complication in early life, often improving with age.

Observation:

  • This report details a woman diagnosed with WHS in her thirties via array comparative genomic hybridization (array-CGH).
  • She exhibited milder facial dysmorphic features, quantified using stereophotogrammetry.
  • Crucially, her seizures persisted into adulthood, deviating from the typical WHS course.

Findings:

  • Array-CGH enabled a late-life diagnosis of Wolf-Hirschhorn syndrome.
  • Stereophotogrammetry objectively measured subtle dysmorphic traits.
  • Persistent epilepsy in adulthood was a key clinical feature.

Implications:

  • This case expands the clinical spectrum of WHS, particularly regarding adult diagnosis.
  • It underscores the importance of considering WHS in adults with unexplained epilepsy and subtle dysmorphism.
  • Further research into genotype-phenotype correlations in WHS is warranted for improved diagnostic and management strategies.

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