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Cockayne syndrome: the developing phenotype.

Wen-Hann Tan1, Hagit Baris, Caroline D Robson

  • 1Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.

American Journal of Medical Genetics. Part A
|May 12, 2005
PubMed
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Cockayne syndrome, a rare genetic disorder, can present subtly in childhood. This case highlights a 21-year-old diagnosed late, emphasizing the need for early clinical awareness of mild symptoms.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Cockayne syndrome is a rare autosomal recessive disorder.
  • Characterized by microcephaly, cachectic dwarfism, and progressive neurological degeneration.
  • Early diagnosis is often challenging due to subtle initial symptoms.

Observation:

  • Presents a case of a 21-year-old woman diagnosed with Cockayne syndrome type I.
  • Phenotypic features became apparent around 8 years old.
  • Clinical presentation included severe microcephaly, micrognathia, dental issues, spastic quadriparesis, and developmental regression.

Findings:

  • Head CT revealed bilateral globus pallidus calcification and global atrophy.
  • The patient's Cockayne syndrome phenotype was not evident until age 8.

Related Experiment Videos

  • This case underscores the delayed onset and subtle initial manifestations.

    • Implications:

    • Alerts clinicians to the potential for subtle early phenotypic features of Cockayne syndrome.
    • Emphasizes the importance of considering Cockayne syndrome in patients with unexplained neurological degeneration and developmental regression.
    • Highlights the need for increased awareness and timely diagnosis for better patient management.