A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy
✍ Scribed by Spiridon Papapetropoulos; Jennifer Friedman; Craig Blackstone; Gary I. Kleiner; Brian C. Bowen; Carlos Singer
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 76 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
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. © 2007 Movement Disorder Society