# A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features

## TL;DR

A 13-year-old girl showed mild, unusual symptoms of Canavan disease, highlighting the need to recognize atypical cases for accurate diagnosis.

## Contribution

This case expands the known clinical and radiological spectrum of Canavan disease with a mild and atypical presentation.

## Key findings

- The patient exhibited intention tremor and fine motor difficulties instead of typical CD symptoms.
- MRI showed symmetrical brain changes initially suggesting a different disorder.
- Whole genome sequencing confirmed the diagnosis of Canavan disease.

## Abstract

This case report highlights an atypical presentation of Canavan disease (CD) in a 13‐year‐old female with intention tremor and fine motor difficulties. Neuroimaging revealed symmetrical changes in various brain regions initially suggesting a neurometabolic or mitochondrial disorder. However, further investigations, including biochemical analysis and whole genome sequencing, confirmed a diagnosis of CD. Unlike classical presentations, this case exhibited milder symptoms and unusual MRI findings, contributing to the expanding clinical and radiological spectrum of CD. The importance of recognizing such atypical presentations is emphasized for accurate diagnosis and management of CD.