title: Type I sialidosis: a clinical, biochemical and neuroradiological study.
abstract: We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy. palmeri@unisi.it
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: J G
authors.initials: JG
authors.lastname: Huijmans
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
authors.forename: A
authors.initials: A
authors.lastname: Rufa
authors.forename: D
authors.initials: D
authors.lastname: DeFalco
authors.forename: G
authors.initials: G
authors.lastname: Ciacci
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: G
authors.initials: G
authors.lastname: Guazzi
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008854:Microscopy, Electron; D009081:Mucolipidoses / Q000000981:diagnostic imaging* / Q000473:pathology* / Q000503:physiopathology; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D014057:Tomography, X-Ray Computed