title: Cerebral white-matter changes suggesting leukodystrophy in ataxia telangiectasia.
abstract: Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, recurrent sinopulmonary infections, oculocutaneous telangiectasia, selective immunoglobulin deficiency, and defective cellular immunity. We report a 4-year-old girl with ataxia telangiectasia whose initial magnetic resonance imaging (MRI) scan at 17 months of age showed leukoencephalopathy compatible with a leukodystrophy, a neuroimaging feature of ataxia telangiectasia that has not been described. Ataxia telangiectasia was not suspected until the child developed more typical clinical features. Diffuse white-matter high signal intensity on T2-weighted MRI scans may occur in the early stages of ataxia telangiectasia. This disease should be considered in the differential diagnosis of any child with a history and MRI findings suggestive of one of the leukodystrophies. The nonneurologic manifestations of ataxia telangiectasia may be of help diagnostically in this clinical setting.
authors.affiliation: Department of Neurology, West Virginia University Health Science Center, Morgantown 26506.
authors.forename: E O
authors.initials: EO
authors.lastname: Chung
authors.forename: J B
authors.initials: JB
authors.lastname: Bodensteiner
authors.forename: P A
authors.initials: PA
authors.lastname: Noorani
authors.forename: S S
authors.initials: SS
authors.lastname: Schochet
mesh_terms: D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D002272:Carcinoembryonic Antigen / Q000032:analysis; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D011859:Radiography; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D002272:Carcinoembryonic Antigen; D000509:alpha-Fetoproteins