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Fabry disease presenting with multiple hemorrhagic cerebral infarction. A case report
1Department of Radiology, Toho University Ohashi Medical Center; Tokyo, Japan - minako.oooka@med.toho-u.ac.jp.
The Neuroradiology Journal
|September 14, 2013
Summary
This case study highlights a woman with Fabry disease experiencing multiple hemorrhagic cerebral infarctions. It emphasizes differentiating these strokes from other causes in Fabry disease patients.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Fabry disease is a rare genetic disorder affecting multiple organs.
- Cerebrovascular complications, including stroke, are known manifestations of Fabry disease.
- Distinguishing stroke etiology in Fabry disease patients can be challenging.
Purpose of the Study:
- To report a case of multiple hemorrhagic cerebral infarctions in a Fabry disease heterozygote.
- To discuss the differential diagnosis between cardiogenic cerebral embolus and Fabry disease-associated stroke.
- To review the spectrum of cerebrovascular events in Fabry disease.
Main Methods:
- Case report of a 57-year-old female heterozygote for Fabry disease.
- Clinical assessment and radiological evaluation of cerebral infarctions.
- Literature review on stroke in Fabry disease.
Main Results:
- The patient presented with multiple hemorrhagic cerebral infarctions.
- Clinical and radiological findings initially suggested a cardiogenic embolic source.
- The need for careful distinction from stroke directly related to Fabry disease was identified.
Conclusions:
- Fabry disease can present with diverse cerebrovascular pathologies, including hemorrhagic infarctions.
- Accurate diagnosis of stroke etiology is crucial for appropriate management in Fabry disease.
- This case underscores the importance of considering Fabry disease in the differential diagnosis of stroke.
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