title: Parkinsonism in cerebrotendinous xanthomatosis.
abstract: This report describes a case of cerebrotendinous xanthomatosis (CTX) accompanied by clinical manifestations of parkinsonism, including oily and masked face, marked akinesia, muscle rigidity and resting hand tremor. Magnetic resonance imaging (MRI) of the brain showed high intensity areas on T2 weighted imaging, and slightly low intensity areas on T1 weighted imaging in the right globus pallidus and the left putamen. Cerebral cortical atrophy with slight ventricular dilatation and cerebellar atrophy were present as well. This is a case report of CTX which manifested parkinsonism. Parkinsonism may not be a coincidental manifestation in CTX, but rather represent a symptom of the same underlying diathesis.
authors.affiliation: Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Fujiyama
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
authors.forename: H
authors.initials: H
authors.lastname: Yoshidome
authors.forename: M
authors.initials: M
authors.lastname: Suehara
authors.forename: N
authors.initials: N
authors.lastname: Eiraku
authors.forename: N
authors.initials: N
authors.lastname: Kashio
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000150:complications*; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D004083:Cholestanol / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D010300:Parkinson Disease / Q000188:drug therapy / Q000209:etiology*; D014973:Xanthomatosis / Q000150:complications*
chemical_list: D002635:Chenodeoxycholic Acid; D007980:Levodopa; D004083:Cholestanol; D002784:Cholesterol