title: Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis.
abstract: This reports a 40 year old man with cerebrotendinous xanthomatosis who had bilateral cataracts, enlarged Achilles tendons, progressive dementia, gait disturbance and peripheral neuropathy. Electroencephalography, electromyography, and magnetic resonance imaging (MRI) of the brain and spine were performed. Magnetic resonance imaging revealed cerebral, cerebellar and cervical cord atrophy and white matter involvement in the cerebrum and cerebellum correlating well with the clinical findings. To date there has been one previous report of MRI of the brain in cerebrotendinous xanthomatosis and none of the spinal cord.
authors.affiliation: Department of Neurology, College of Medicine, University of South Florida, Tampa.
authors.forename: K S
authors.initials: KS
authors.lastname: Bencze
authors.forename: D R
authors.initials: DR
authors.lastname: Vande Polder
authors.forename: L D
authors.initials: LD
authors.lastname: Prockop
mesh_terms: D000125:Achilles Tendon / Q000473:pathology; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D004083:Cholestanol / Q000097:blood*; D002784:Cholesterol / Q000031:analogs & derivatives*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003711:Demyelinating Diseases / Q000175:diagnosis; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013116:Spinal Cord / Q000473:pathology*; D014973:Xanthomatosis / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004083:Cholestanol; D002784:Cholesterol