# Unmasking Wilson Disease: A Rare Paediatric Case of Haemolysis and Hepatic Dysfunction Without Neurological Features

## TL;DR

A rare case of Wilson disease in a child presented with liver issues and anemia but no neurological symptoms, emphasizing the need for early diagnosis.

## Contribution

Highlights an atypical pediatric Wilson disease case with non-neurological symptoms and the importance of the Wilson disease scoring system.

## Key findings

- A 10-year-old boy with WD was initially misdiagnosed with ITP and haemolytic anaemia.
- WD was diagnosed using the Wilson disease scoring system despite absence of neurological features.
- The case emphasizes the need for early diagnosis and multidisciplinary management in WD.

## Abstract

Wilson disease (WD) is a rare autosomal recessive disorder characterized by abnormal copper accumulation in various organs, including the liver, brain, and kidneys. Its diverse clinical presentation, particularly in paediatric patients, poses a significant diagnostic challenge. We present a unique case of a 10-year-old boy initially misdiagnosed with immune thrombocytopenic purpura (ITP) and haemolytic anaemia, later diagnosed with WD after extensive evaluation. The patient’s condition progressed to liver cirrhosis, spontaneous bacterial peritonitis, acute respiratory distress syndrome, and multisystem organ failure despite prompt initiation of copper-chelating therapy. This case underscores the importance of considering WD in paediatric patients with unexplained liver dysfunction, haemolysis, or hepatosplenomegaly, even in the absence of classic neurological symptoms or Kayser-Fleischer rings. The Wilson disease scoring system proved valuable in this atypical presentation, guiding diagnosis and management. This report highlights the need for heightened awareness, early diagnosis, and a multidisciplinary approach in managing WD, particularly in its advanced stages.