title: Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients.
abstract: We report the findings on cranial computed tomography (CT) and magnetic resonance imaging (MRI) and their correlation with the clinical manifestations, disease severity and biochemical abnormalities in eight patients with cerebrotendinous xanthomatosis. CT revealed cerebral atrophy in seven cases, cerebellar atrophy in four and focal low density lesions in the cerebral white matter in two. T2-weighted MRI showed high signal lesions in the cerebral white matter, focal in four cases and diffuse in one, and in the globus pallidus in three patients, two of whom also had lesions in the cerebellar white matter. While severely affected patients showed variable CT and MRI abnormalities, our cases did not show the dramatic findings expected from the neurological manifestations. Diffuse lesions in the cerebral and cerebellar white matter have been emphasized in previous reports, but in our study the focal lesions in the cerebral white matter were also present; the globus pallidus was frequently involved.
authors.affiliation: Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Hokezu
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
authors.forename: R
authors.initials: R
authors.lastname: Kubota
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: J
authors.initials: J
authors.lastname: Fujiyama
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000125:Achilles Tendon / Q000002:abnormalities*; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D004083:Cholestanol / Q000032:analysis; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D014057:Tomography, X-Ray Computed; D014973:Xanthomatosis / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004083:Cholestanol