A progressive, fatal dystonia‐Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy
Identifieur interne : 003627 ( Istex/Curation ); précédent : 003626; suivant : 003628A progressive, fatal dystonia‐Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy
Auteurs : Spiridon Papapetropoulos [États-Unis] ; Jennifer Friedman [États-Unis] ; Craig Blackstone [États-Unis] ; Gary I. Kleiner [États-Unis] ; Brian C. Bowen [États-Unis] ; Carlos Singer [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-08-15.
English descriptors
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
Url:
DOI: 10.1002/mds.21631
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<front><div type="abstract" xml:lang="en">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</div>
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