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

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.

© 2013 by Lippincott Williams & Wilkins



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