Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.
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.
Parvaneh
Nima
N
Children's Hospital Center, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran. nparvaneh@razi.tums.ac.ir
Ashrafi
Mahmoud-Reza
MR
Yeganeh
Mehdi
M
Pouladi
Nima
N
Sayarifar
Fatemeh
F
Parvaneh
Leila
L
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
D011683:Purine-Nucleoside Phosphorylase