Skip Navigation LinksHome > September/October 2013 - Volume 37 - Issue 5 > Alexander Disease: A Novel Mutation in the Glial Fibrillary...
Journal of Computer Assisted Tomography:
doi: 10.1097/RCT.0b013e31829f5a04
Neuroradiology

Alexander Disease: A Novel Mutation in the Glial Fibrillary Acidic Protein Gene With Initial Uncommon Clinical and Magnetic Resonance Imaging Findings

da Silva Pereira, Conceição Campanário MD,*; Gattás, Gabriel Scarabôtolo MD†‡; Lucato, Leandro Tavares MD, PhD

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Abstract

Alexander disease (AxD) is a rare neurodegenerative disorder related to mutations in the glial fibrillary acidic protein gene. We report the case of a child with disease onset at the age of 3 months and a novel mutation in the glial fibrillary acidic protein gene. Peculiar aspects were initially atypical clinical and magnetic resonance imaging (MRI) findings, which became typical during follow-up. The child was born after an uneventful pregnancy, presented initially only as a failure to thrive. The first MRI examination demonstrated obstructive hydrocephalus and cerebral white matter abnormalities (which were more prominent posteriorly). During follow-up, her clinical picture became typical of AxD with macrocephaly and neurodevelopmental delay. Sequential MRI examinations showed frontal white matter involvement, together with exuberant forniceal lesions and areas of contrast enhancement.

Copyright © 2013 by Lippincott Williams & Wilkins

 

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