Journal
BRAIN & DEVELOPMENT
Volume 29, Issue 2, Pages 124-126Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2006.07.008
Keywords
immunodeficiency; JC virus; progressive multifocal leukoencephalopathy; purine nucleoside phosphorylase
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Progressive multifocal leukoencephalopathy is a demyelinating disease caused by JC virus, an opportunistic infection of the central nervous system. Although the majority of cases are infected with the human immunodeficiency virus (HIV), other immunocompromised patients are also at risk. Purine nucleoside phosphorylase is an enzyme in the purine salvage pathway that reversibly converts inosine to hypoxanthine and guanosine to guanine. Purine nucleoside phosphorylase deficiency is a combined immunodeficiency with a profound cellular defect. Neurologic abnormalities are salient features of this syndrome. We describe for the first time a patient with this rare disorder presented with progressive multifocal leukoencephalopathy. (c) 2006 Elsevier B.V. All rights reserved.
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