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Rare disease
CASE REPORT
Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder
  1. Pulkit Rangarh1,
  2. Neera Kohli2
  1. 1Department of Radiodiagnosis, King George’s Medical University, Lucknow, Uttar Pradesh, India
  2. 2Department of Radiodiagnosis and Imaging, RML Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Pulkit Rangarh, Pulkitrangarh1210{at}gmail.com

Summary

Menkes disease is a rare neurodegenerative metabolic disease with a reported incidence of 1 per 300 000 live births. It occurs due to mutations in ATP7A gene located on X-chromosome leading to deficiency of several copper-containing enzymes. The patient presents with history of neuroregression with characteristic kinky hair. MRI is the imaging modality of choice. Characteristic imaging findings are: bilateral subdural hygromas, cerebral and cerebellar atrophy, white matter changes and tortuous intracranial vessels on angiography. The rarity of this condition prompted us to report this case of Menkes disease along with the characteristic neuroimaging findings and brief review of literature.

  • neurology
  • neuro genetics
  • paediatrics

https://doi.org/10.1136/bcr-2017-223858

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    Footnotes

    • Contributors Dr PR and Professor NK: conception and design, acquisition of data or analysis and interpretation of data. Drafting the article or revising it critically for important intellectual content. Final approval of the version published. Agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.