Gaucher disease type I complicated with Parkinson's syndrome.
Gaucher disease type I is the so-called non-neuronal adult form of the autosomally inherited lysosomal storage disease. The simultaneous occurrence of Gaucher disease with Parkinson's syndrome has been reported to aggravate both disorders, leading to an unusually early onset and therapy resistance. Neurological alterations in Gaucher disease type I are mostly related to CNS bleeding and skeletal complications. The patient presented here was sensitive to combination therapy for 5 years.
Várkonyi
Judit
J
Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary. quitvar@axelero.hu
Simon
Zsuzsa
Z
Soós
Krisztina
K
Poros
Anna
A
D017668:Age of Onset; D004359:Drug Therapy, Combination; D020820:Dyskinesias; D017809:Fatal Outcome; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000150:complications* / Q000175:diagnosis / Q000209:etiology; D016896:Treatment Outcome