Challenging diagnosis of Wilson’s disease – a case report

Authors

  • Valeed Bin Mansoor Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Saad Yunus Khan Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Muhammad Arsalan Khan Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Shafat Khatoon Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Muhammad Arqam Miraj Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Fibhaa Syed Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Mohammad Ali Arif Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

DOI:

https://doi.org/10.47391/JPMA.9637

Keywords:

Wilson’s Disease, copper toxicity, Kayser-Fleischer rings, diagnosis, family screening, clinical variability, anticopper therapy

Abstract

Wilson’s disease is a rare inherited disorder of copper metabolism. If left untreated, it can turn into a multi systemic disease with copper deposition in the liver, brain, and other tissues. Diagnosis of Wilson’s is delayed in Pakistan by many years on average due to variable presentations. In adolescents, the initial signs are more likely to be neuropsychiatric. Here we present a case of Wilson’s disease that presented initially with hepatic symptoms and did not have signs specific to the disease such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson’s Disease only on further investigations and subsequently the patient was treated with chelation therapy using D-Penicillamine.Wilson’s Disease should be kept in mind as a differential diagnosis in adolescent patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.

Published

2023-12-24

How to Cite

Mansoor , V. B., Khan , S. Y., Khan , M. A., Khatoon, S., Miraj, M. A., Syed, F., & Arif, M. A. (2023). Challenging diagnosis of Wilson’s disease – a case report. Journal of the Pakistan Medical Association, 74(1), 169–171. https://doi.org/10.47391/JPMA.9637

Issue

Section

Case Report