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Menkes disease: A rare disorder

Sidra Kaleem Jafri1, Raman Kumar2, Shazia Kulsoom Lashari1

  • 1Aga Khan University Hospital, Karachi, Pakistan.

JPMA. the Journal of the Pakistan Medical Association
|September 29, 2017
PubMed

Insights

Menkes disease (MD), a rare genetic disorder, causes developmental delay and seizures due to copper metabolism issues. Early diagnosis is crucial for managing this severe neurodegenerative condition.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Menkes disease (MD), also known as kinky hair disease, is a rare X-linked recessive disorder.
  • It results from mutations in the ATP7A gene, affecting copper transport and metabolism.
  • MD typically presents in infancy with severe neurodevelopmental impairment.

Observation:

  • A 7-month-old male infant presented with developmental delay and progressive seizures.
  • Physical examination revealed sparse, kinky hair, central hypotonia, and decreased muscle power.
  • Diagnostic findings included low serum ceruloplasmin and copper levels, frontal cortical atrophy on MRI, and hypsarrhythmia on EEG.

Findings:

  • The patient exhibited classic clinical and biochemical features of Menkes disease.
  • Neuroimaging revealed significant frontal cortical atrophy.
  • Electroencephalogram (EEG) showed a hypsarrhythmia pattern, indicative of severe brain dysfunction.

Implications:

  • Early identification of Menkes disease is critical for timely intervention and supportive care.
  • Understanding the neurodegenerative course informs prognosis and management strategies.
  • Further research into copper metabolism defects may reveal therapeutic targets for MD and related disorders.
Keywords:
Menkes disease, Infantile spasms, Hypsarrythmia.

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