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Menkes' disease: case report

Fabio Agertt1, Ana C S Crippa, Paulo J Lorenzoni

  • 1Neurology and Neuropediatrics Services, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 181, 80060-900 Curitiba, PR, Brazil.

Arquivos De Neuro-Psiquiatria
|April 11, 2007
PubMed

Insights

Menkes disease, a rare neurodegenerative disorder, involves copper transport defects. This case highlights key clinical, imaging, and biopsy findings in a 7-month-old infant, aiding diagnosis.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Menkes disease is a rare X-linked recessive disorder caused by mutations in the ATP7A gene, affecting copper transport.
  • It leads to a severe copper deficiency in the brain and other organs, resulting in progressive neurodegeneration.

Observation:

  • A 7-month-old male infant presented with seizures, hypoactivity, and lack of visual contact.
  • Physical examination revealed characteristic hair abnormalities: pili torti and trichorrhexis nodosa.
  • Neurological assessment included electroencephalogram (EEG) showing disorganization and epileptiform activity, and brain MRI revealing atrophy and white matter changes.

Findings:

  • Laboratory tests showed low serum copper and ceruloplasmin levels.
  • Muscle biopsy demonstrated type 2 fiber atrophy.
  • The combination of clinical presentation, hair abnormalities, biochemical, neuroimaging, and neurophysiological data confirmed the diagnosis of Menkes disease.

Implications:

  • Early diagnosis of Menkes disease is crucial for potential interventions, although treatment options remain limited.
  • Understanding the diverse clinical manifestations aids in recognizing this rare disorder.
  • This case underscores the importance of a multidisciplinary approach in diagnosing complex neurodegenerative conditions in infants.

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