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A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy.

Papapetropoulos, Spiridon; Friedman, Jennifer; Blackstone, Craig; Kleiner, Gary I; Bowen, Brian C; Singer, Carlos.
Mov Disord; 22(11): 1664-6, 2007 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-17588239
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinsonism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.
Selo DaSilva