A patient with parkinsonism related to Gaucher's disease type I successfully treated by unilateral pallidotomy - a 3-year follow-up.
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.
Sobstyl
Michał
M
Klinika Neurochirurgii Centrum Medycznego Kształcenia Podyplomowego w Warszawie. mrsob@op.pl
Zabek
Mirosław
M
Koziara
Henryk
H
Dzierzecki
Sebastian
S
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