Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018991 (
hemiplegia
)
3,997
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Stroke in purine nucleoside phosphorylase deficiency. 777 12
