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

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

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...

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Bibliographic Details
Main Authors: Preeya Rehsi, Ata Siddiqui, Rahul Singh, Obioma Ihezue, Rebecca Halligan
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:JIMD Reports
Subjects:
atypical presentation
Canavan disease
intention tremor
neuroimaging
whole genome sequencing
Online Access:https://doi.org/10.1002/jmd2.70031
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https://doi.org/10.1002/jmd2.70031

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