PT  - JOURNAL ARTICLE
AU  - Pulkit Rangarh
AU  - Neera Kohli
TI  - Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder
AID  - 10.1136/bcr-2017-223858
DP  - 2018 May 22
TA  - BMJ Case Reports
PG  - bcr-2017-223858
VI  - 2018
4099  - http://casereports.bmj.com/content/2018/bcr-2017-223858.short
4100  - http://casereports.bmj.com/content/2018/bcr-2017-223858.full
AB  - 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.