Wilson’s Disease Diagnosed Postnatally Due to Neurological Manifestation
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Wilson’s disease (WD) is an autosomal recessive disorder due to the mutation in the ATP 7B gene. This gene is on chromosome 13 and codes for P-type ATPase which is responsible for transport of copper from intracellular chaperone proteins in hepatocytes into the secretory pathway. There is defective incorporation of copper into apo-ceruloplasmin for synthesis of functional ceruloplasmin as well as improper biliary excretion of copper, which leads to its accumulation in liver, brain and cornea . The clinical presentation of WD varies widely. In an Indian cohort studied over three decades by Taly et al., 69.1% presented with neurological manifestations followed by hepatic, pre-symptomatic, hepato-neurological, psychiatric and Osseo-muscular in that order. Majority present between the age of 5 and 35 years . The commonest association in women of reproductive age group is with infertility and recurrent abortions . We present a case of a 30-year-old woman with rare...
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The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional ethics committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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This article does not contain any studies with animals performed by any of the authors.
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