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Menkes syndrome presenting as myoclonic seizures: neuroimaging and EEG observations

P S Bindu1, S Sinha, A B Taly

  • 1Department of Neurology, NIMHANS, Karnataka, India.

Journal of Child Neurology
|July 11, 2007
PubMed

Insights

Menkes kinky hair disease, a rare genetic disorder, caused global developmental delay and seizures in an infant. Low copper levels and characteristic hair changes were noted, with poor treatment response.

Area of Science:

  • Biochemistry
  • Pediatric Neurology
  • Medical Genetics

Background:

  • Menkes kinky hair disease is an X-linked recessive disorder caused by mutations in the copper-transporting ATPase gene.
  • It affects copper metabolism, leading to systemic copper deficiency and neurological impairment.

Observation:

  • An 11-month-old boy presented with global developmental delay and myoclonic seizures.
  • Clinical examination revealed sparse, hypopigmented, steely wool-like hair with alopecia.
  • Laboratory tests showed low serum ceruloplasmin and copper levels.

Findings:

  • Neuroimaging demonstrated cerebral atrophy and delayed myelination.
  • Cerebral angiography revealed tortuous blood vessels in the brain and neck.
  • The patient showed a poor response to symptomatic management.

Implications:

  • This case highlights the critical role of copper in neurological development.
  • Early diagnosis and intervention are crucial for managing Menkes kinky hair disease.
  • Further research into effective therapeutic strategies is warranted.

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