title: A patient with parkinsonism related to Gaucher's disease type I successfully treated by unilateral pallidotomy - a 3-year follow-up.
abstract: Gaucher's disease is the most common hereditary lysosomal storage disorder and presents with a wide clinical spectrum including parkinsonism. We present a patient first diagnosed with idiopathic Parkinson's disease at the age of 38 due to left-sided bradykinesia and rigidity. But thereafter the diagnosis of Gaucher's disease type I according to clinical pictures and clinical genetic testing was made. Despite the optimal enzyme replacement therapy, the parkinsonian symptoms worsened. He was referred for consideration for surgical treatment of his severe parkinsonism. At the age of 54 he underwent right-sided posteroventrolateral pallidotomy. The surgery was uneventful and he immediately improved. On the last examination performed 3 years later, he had mild parkinsonism and was independent in all activities of daily living. This case demonstrates a benefit of surgical treatment for genetically proven Gaucher's disease type I.
authors.affiliation: Klinika Neurochirurgii Centrum Medycznego Kształcenia Podyplomowego w Warszawie. mrsob@op.pl
authors.forename: Michał
authors.initials: M
authors.lastname: Sobstyl
authors.forename: Mirosław
authors.initials: M
authors.lastname: Zabek
authors.forename: Henryk
authors.initials: H
authors.lastname: Koziara
authors.forename: Sebastian
authors.initials: S
authors.lastname: Dzierzecki
mesh_terms: D000203:Activities of Daily Living; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000150:complications* / Q000601:surgery*; D006801:Humans; D008297:Male; D008875:Middle Aged; D053860:Pallidotomy / Q000379:methods; D010302:Parkinson Disease, Secondary / Q000209:etiology* / Q000517:prevention & control*; D016896:Treatment Outcome