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Wilson’s Disease Diagnosed Postnatally Due to Neurological Manifestation

  • Monica Thiyagarajan
  • Keerthana Anand
  • Gowri Dorairajan
  • Haritha Sagili
  • Murali Subbaiah
Case Report
  • 4 Downloads

Introduction

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 [1]. 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 [1]. The commonest association in women of reproductive age group is with infertility and recurrent abortions [2]. We present a case of a 30-year-old woman with rare...

Notes

Acknowledgement

We would like to thank the institute for their support.

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Statement

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.

Human and Animal Rights

This article does not contain any studies with animals performed by any of the authors.

Informed Consent

Informed written consent has been obtained from the patient for the publication of the case report and images.

References

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Copyright information

© Federation of Obstetric & Gynecological Societies of India 2019

Authors and Affiliations

  1. 1.Department of Obstetrics and GynaecologyJIPMERPuducherryIndia
  2. 2.Apollo Centre for Fetal MedicineNew DelhiIndia
  3. 3.Department of Gynaecological OncologyCMCVelloreIndia

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