A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy.
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.
Papapetropoulos
Spiridon
S
Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida 33136, and Massachusetts General Hospital, Boston, USA. spapapetropoulos@med.miami.edu
Friedman
Jennifer
J
Blackstone
Craig
C
Kleiner
Gary I
GI
Bowen
Brian C
BC
Singer
Carlos
C
D000293:Adolescent; D001921:Brain / Q000473:pathology; D020821:Dystonic Disorders / Q000150:complications / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D007155:Immunologic Factors / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D020734:Parkinsonian Disorders / Q000150:complications / Q000188:drug therapy* / Q000473:pathology; D053632:X-Linked Combined Immunodeficiency Diseases / Q000150:complications / Q000188:drug therapy* / Q000473:pathology
D016756:Immunoglobulins, Intravenous; D007155:Immunologic Factors