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Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder

Pulkit Rangarh1, Neera Kohli2

  • 1Department of Radiodiagnosis, King George's Medical University, Lucknow, Uttar Pradesh, India.

BMJ Case Reports
|May 24, 2018
PubMed

Insights

Menkes disease, a rare neurodegenerative disorder caused by ATP7A gene mutations, presents with neuroregression and kinky hair. Characteristic MRI findings include subdural hygromas and cerebral atrophy, aiding diagnosis.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Menkes disease is a rare X-linked neurodegenerative metabolic disorder.
  • It results from mutations in the ATP7A gene, leading to copper deficiency.
  • The incidence is approximately 1 in 300,000 live births.

Observation:

  • Patients exhibit neuroregression and characteristic kinky hair.
  • Magnetic Resonance Imaging (MRI) is the preferred diagnostic tool.
  • Angiography may reveal tortuous intracranial vessels.

Findings:

  • Characteristic MRI findings include bilateral subdural hygromas.
  • Cerebral and cerebellar atrophy are commonly observed.
  • White matter changes are also a significant neuroimaging finding.

Implications:

  • Early diagnosis through characteristic neuroimaging is crucial for Menkes disease management.
  • Understanding these findings aids in differentiating Menkes disease from other neurodegenerative conditions.
  • This case report contributes to the literature on rare neurodegenerative metabolic diseases.
Keywords:
neuro geneticsneurologypaediatrics

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