title: Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.
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.
authors.affiliation: From the *Department of Child Neurology, and †Department of Radiology, Hospital Infantil Sabará, Sao Paulo, Brazil; and ‡Department of Radiology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil.
authors.forename: Conceição Campanário
authors.initials: CC
authors.lastname: da Silva Pereira
authors.forename: Gabriel Scarabôtolo
authors.initials: GS
authors.lastname: Gattás
authors.forename: Leandro Tavares
authors.initials: LT
authors.lastname: Lucato
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D005904:Glial Fibrillary Acidic Protein