Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature

Richa Chaudhary,Sham Lohiya,Sachin Damke,Keta Vagha

doi:10.3126/jnps.v41i2.31904

Abstract

Wilson’s disease is an autosomal recessive disorder of copper metabolism associated with deposition of copper in various organs including the heart and the brain. Hepatic manifestations are the commonest but various extrahepatic manifestations are known which include neuropsychiatric features, haemolytic anaemia, arthropathy etc. Knowledge of all these manifestations result in early clinical suspicion and the diagnosis of Wilson’s disease is confirmed by increased urinary copper levels and decreased serum cerruloplasmin level. Other tests which can be done to confirm the diagnosis include molecular testing and liver copper estimation. Once diagnosed, Wilson’s disease should be treated with chelating agents (e.g. d-penicillamine) and restriction of dietary copper. Timely treatment with zinc acetate or d-penicillamine prevents progression of the disease in asymptomatic children. Adequate chelation also results in good overall prognosis even in symptomatic children. Here we report a case series of nine children with different manifestations of Wilson’s disease throwing more light on the subject.

Highlights

Wilson’s disease (WD) is an autosomal recessive disorder and is caused by mutation in ATP7B gene which is responsible for copper excretion into the bile.[1]
There is accumulation of copper in the liver from early infancy which eventually results in copper overload and it starts accumulating in other organs such as nervous system, cornea, kidneys and heart.[2,3]
Most children with WD present with liver disease followed by neurological manifestations which is more common during adolescence.[5]

Summary

INTRODUCTION

Wilson’s disease (WD) is an autosomal recessive disorder and is caused by mutation in ATP7B gene which is responsible for copper excretion into the bile.[1]. Case 3 A 10-year-old boy presented to us with the history of fever for last 15 days, breathing difficulty for last few days He had history of jaundice and abdominal distension for last three months for which he had shown in the other hospital where he was diagnosed as having Wilson’s disease as his 24 urinary copper was increased and serum ceruloplasmin level was decreased.

DISCUSSION

Findings

CONCLUSIONS