title: Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.
abstract: 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.
authors.affiliation: Children's Hospital Center, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran. nparvaneh@razi.tums.ac.ir
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
authors.forename: Mahmoud-Reza
authors.initials: MR
authors.lastname: Ashrafi
authors.forename: Mehdi
authors.initials: M
authors.lastname: Yeganeh
authors.forename: Nima
authors.initials: N
authors.lastname: Pouladi
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Sayarifar
authors.forename: Leila
authors.initials: L
authors.lastname: Parvaneh
mesh_terms: D002648:Child; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000209:etiology* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000473:pathology
chemical_list: D011683:Purine-Nucleoside Phosphorylase