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BMJ Case Rep. 2018 May 22;2018. pii: bcr-2017-223858. doi: 10.1136/bcr-2017-223858.

Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder.

Author information

1
Department of Radiodiagnosis, King George's Medical University, Lucknow, Uttar Pradesh, India.
2
Department of Radiodiagnosis and Imaging, RML Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Abstract

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.

KEYWORDS:

neuro genetics; neurology; paediatrics

PMID:
29789304
DOI:
10.1136/bcr-2017-223858
[Indexed for MEDLINE]

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