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Ischemic stroke in Williams-Beuren syndrome: a case report
Wei-Der Lee1, Jui-Jen Hsu, Feng-Chen Huang
1Department of Physical Medicine and Rehabilitation, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
The Kaohsiung Journal of Medical Sciences
|June 9, 2009
Summary
A 15-year-old girl experienced acute stroke symptoms and was diagnosed with Williams-Beuren syndrome. This case highlights the importance of considering genetic syndromes in young stroke patients and managing associated cardiovascular risks.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Williams-Beuren syndrome is a genetic disorder associated with multiple congenital anomalies, particularly cardiovascular issues.
- Stroke is an uncommon but serious manifestation in young individuals with genetic syndromes.
- Early diagnosis and management are crucial for improving long-term outcomes.
Observation:
- A 15-year-old female presented with acute facial palsy and hemiparesis, indicative of a stroke.
- Magnetic resonance imaging revealed an infarct in the left internal capsule and putamen.
- The patient had a history of developmental delay and was found to have hypertension.
Findings:
- Fluorescent in situ hybridization confirmed Williams-Beuren syndrome.
- Unlike previously reported cases, this patient showed no signs of cerebral arterial stenosis or cardiac abnormalities on noninvasive imaging.
- The stroke was attributed to Williams-Beuren syndrome in the absence of other common etiological factors.
Implications:
- This case expands the spectrum of neurological presentations associated with Williams-Beuren syndrome.
- It underscores the need for comprehensive stroke evaluation in young patients with developmental delays and hypertension.
- Regular cardiovascular monitoring and antihypertensive therapy are essential for managing lifelong risks in Williams-Beuren syndrome patients.
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