ICNC Abstracts, ICNC 2018

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A case series of four patients of Menkes disease -clinico radiological presentation with usual and unusual features.
umesh dinkar kalane, Umesh Dinkar Kalane, Surekha Rajadhyaksha

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) .


Keywords


Key words –Menkes disease, kinky hair, ATPase7 gene(ATP7A)

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