Stroke in purine nucleoside phosphorylase deficiency.
The first documented case of cerebrovascular disease occurring in a 13-year-old girl with purine nucleoside phosphorylase deficiency is reported. This patient, the oldest known survivor with purine nucleoside phosphorylase deficiency, had previously experienced multiple sequential neurologic problems. She presented with episodes of transient left hemiparesis, followed shortly thereafter by dense left hemiplegia. Magnetic resonance imaging revealed a right internal capsule infarct; cerebral angiography revealed vasculopathy of the proximal vessels. Proposed mechanisms for neurologic dysfunction and cerebrovascular disease in purine nucleoside phosphorylase deficiency are discussed.
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Division of Child Neurology, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298-0211, USA.
Leshner
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D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002533:Cerebral Angiography; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics; D002561:Cerebrovascular Disorders / Q000175:diagnosis / Q000235:genetics*; D004292:Dominance, Cerebral / Q000502:physiology; D005260:Female; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D002546:Ischemic Attack, Transient / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*
D011683:Purine-Nucleoside Phosphorylase