RT Journal Article
SR Electronic
T1 Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr-2017-223858
DO 10.1136/bcr-2017-223858
VO 2018
A1 Pulkit Rangarh
A1 Neera Kohli
YR 2018
UL http://casereports.bmj.com/content/2018/bcr-2017-223858.abstract
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.