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Published on: February 3, 2012

Menkes kinky hair disease (Menkes syndrome). A case report

Petja Fister1, Jona Rakus, Zvonka Rener Primec

  • 1University Children's Hospital, University Medical Centre Ljubljana, Vrazov trg 1, 1525 Ljubljana. petja_fister@yahoo.com

Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica
|October 21, 2006
PubMed

Insights

Menkes disease (MD), a rare neurodegenerative disorder due to ATP7A gene mutations, presents challenges in diagnosis and treatment. Early intervention is crucial for potential success in managing this copper metabolism disorder.

Area of Science:

  • Genetics
  • Neuroscience
  • Biochemistry

Background:

  • Menkes disease (MD) is a rare, inherited neurodegenerative disorder.
  • It stems from mutations in the ATP7A gene, impacting copper transport and enzyme function.
  • Copper deficiency in some tissues and accumulation in others characterize MD.

Observation:

  • A 2-month-old boy presented with encephalopathy and epileptic seizures.
  • He experienced progressive developmental delay despite antiepileptic drug treatment.
  • Clinical and laboratory findings suggested MD, pending genetic confirmation.

Findings:

  • The case represents the first reported instance of Menkes disease in Slovenia.
  • Diagnosis was established through clinical and laboratory evaluation.
  • Genetic confirmation of the ATP7A mutation is planned.

Implications:

  • Late diagnosis and treatment initiation often limit therapeutic success in Menkes disease.
  • Early neonatal intervention offers a potential success rate of up to 50%.
  • This case highlights the importance of timely diagnosis for rare genetic disorders.

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