# Atypical Presentation of Wilson Disease: Unravelling a Clinical and Radiological Complexity in a Rare Case

## TL;DR

A rare case of Wilson disease in a young girl shows unusual symptoms, highlighting the need for early diagnosis to prevent severe outcomes.

## Contribution

This case report presents an atypical clinical and radiological presentation of Wilson disease in a child.

## Key findings

- The patient showed atypical symptoms of Wilson disease at age eight.
- Delayed diagnosis of Wilson disease can lead to fatal outcomes.
- Unusual clinical and radiological features were observed in this case.

## Abstract

Wilson disease (WD) is an autosomal recessive disorder marked by aberrations in copper metabolism, leading to its accumulation in vital organs such as the liver, brain, cornea, kidneys, and heart. While WD typically presents with hepatic symptoms in early childhood, neuropsychiatric manifestations are more prevalent during adolescence. This case report highlights an extraordinary instance of WD in an eight-year-old girl, characterized by intricate clinical and radiological features. The patient exhibited atypical symptoms, emphasizing the importance of recognizing diverse presentations of WD. Delayed diagnosis and treatment initiation can prove fatal in WD cases, underscoring the significance of awareness regarding these unusual clinical and radiological features to facilitate prompt intervention and prevent adverse outcomes.