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A progressive, fatal dystonia‐Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy
Author(s) -
Papapetropoulos Spiridon,
Friedman Jennifer,
Blackstone Craig,
Kleiner Gary I.,
Bowen Brian C.,
Singer Carlos
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21631
Subject(s) - x linked agammaglobulinemia , parkinsonism , medicine , primary immunodeficiency , etiology , dystonia , immunodeficiency , pediatrics , neurological disorder , immunology , central nervous system disease , immune system , bruton's tyrosine kinase , psychiatry , tyrosine kinase , disease , receptor
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