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A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
Published on: August 18, 2015
Cerebral infarction in Hunter syndrome
John Neely1, Jeffrey Carpenter, Wesley Hsu
1Department of Neurology, University of California at San Francisco, San Francisco, California, USA.
Summary
Hunter syndrome (mucopolysaccharidosis type II) can cause ischemic stroke due to heart problems. This rare genetic disorder may lead to blood clots forming in the heart and traveling to the brain.
Area of Science:
- Genetics and rare diseases
- Neurology
- Cardiology
Background:
- Hunter syndrome (mucopolysaccharidosis type II) is an X-linked recessive disorder caused by iduronate sulfatase deficiency.
- Common symptoms include short stature, intellectual disability, hydrocephalus, macroglossia, and cardiac valvulopathy.
Observation:
- A 21-year-old patient with Hunter syndrome presented with acute ischemic stroke.
- Cerebral embolization was evident, with echocardiography revealing thickened mitral and aortic valves.
Findings:
- The patient's stroke was attributed to cardioembolization originating from valvular abnormalities.
- This case highlights a potential neurological complication in individuals with Hunter syndrome.
Implications:
- Ischemic stroke secondary to cardioembolization should be considered a potential complication of Hunter syndrome.
- Early recognition and management of cardiac issues may be crucial for preventing stroke in these patients.
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