A patient with parkinsonism related to Gaucher's disease typeI successfully treated by unilateral pallidotomy:a 3-year follow up

Vous trouverez des articles traitant du même sujet dans la catégorie "Parkinson et Gaucher"  

Si les patients atteints de maladie de Gaucher sont suceptibles d'être atteints par la maladie de Parkinson, il a été constaté que certaines personnes hétérozygotes avec la mutation S370 sont retrouvés parmi les patients atteints de Parkinson.

Liens utiles à la fin des catégories.

Ghislaine SURREL 

maladies-lysosomales-subscribe@yahoogroupes.fr

Neurol Neurochir Pol. 2009 May-Jun;43(3):293-7.

A patient with parkinsonism related to Gaucher's disease type I successfully treated by unilateral pallidotomy - a 3-year follow-up.

Sobstyl M, Zabek M, Koziara H, Dzierzecki S.

Klinika Neurochirurgii Centrum Medycznego Kształcenia Podyplomowego w Warszawie. mrsob@op.pl

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.

PMID: 19618314 [PubMed - indexed for MEDLINE]Free Article

http://www.ncbi.nlm.nih.gov/pubmed/19618314

---