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:C0002986 (
Fabry
)
5,646
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Although it is known that
Fabry disease
should be included in the differential diagnosis of young stroke and fever of unknown origin, it has not been reported in the literature of stroke with fever as the presentation of
Fabry disease
. This is relevant because stroke with fever may misguide the differential diagnosis. Here we present a young stroke patient with fever.
DWI
of brain MRI revealed acute multiple infarctions. Due to the fever, infectious and inflammatory origins such as infective endocarditis and autoimmune diseases were examined first. However, we could not identify the source of fever after fever workup. The fever did not respond to one week of acetaminophen and antibiotics, but responded promptly to steroid. Our patient is also a case of de novo mutation rather than being inherited that further complicates the diagnosis of this patient. Because of the rare combined presentation of stroke with fever,
Fabry disease
should also be considered in stroke with fever, even without family history of
Fabry disease
.
...
PMID:A Case of Fabry Disease Presenting with Young Stroke and Fever. 3186 7
