Last modified: 2018-09-09
Abstract
Menkes disease (MD) is an X-linked lethal multi system neurodegenerative disorder caused by disturbances of copper metabolism due to mutation of p ATPase7 (ATP7A) gene. The estimated prevalence of the disease is 1 in 100000 to 1 in 250000. Hereby we describe a case series of 4 patients of menkes disease with clinical presentation and radiological findings with some unusual features. All patients were presented with normal birth history and normal development in the early infancy and then started with neuroregression. They had clinical features as abnormal hair-with kinky characteristic and abnormal neurological findings. All patients showed biochemical abnormalities of menkes disease with low serum copper and ceruloplasmin levels. Seizures were present in all the affected infants at presentation and Infantile spasms were noticed in 3 patients during clinical course suggesting menkes disease as a important cause for symptomatic west syndrome. Radiological findings showed delayed myelination with cerebral atrophy. Cerebral vessel tortuocity was seen all infants with typical "corkscrew" appearance, suggesting MR angiography as a useful radiological inestigation for the diagnosis. One patient showed marked cerebellar atrophy along with above findings. Another patient showed white matter affection with cystic changes in the Temporal lobes suggesting leucodystrophy and in addition had diffusion restriction in basal ganglia suggesting cytotoxic odema. Genetic test was done in 3 patients, all showed mutations or deletions in ATPase7 gene(ATP7A) .