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Moyamoya disease and Down syndrome
Muferet Erguven1, Murat Deveci, Tahsin Turgut
1Department of Pediatrics, SSK Göztepe Educational Hospital, Istanbul, Turkey.
Indian Journal of Pediatrics
|September 1, 2005
Summary
Moyamoya disease, a rare cerebrovascular condition, can affect children with Down syndrome. This case highlights a young boy with Down syndrome presenting with focal convulsions due to Moyamoya disease.
Area of Science:
- Neurology
- Pediatrics
- Vascular Neurology
Background:
- Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis of the terminal internal carotid arteries and the Circle of Willis.
- It leads to the formation of abnormal collateral vessels, often described as a 'puff of smoke' on angiography.
- The etiology remains largely unknown, with possibilities including congenital or acquired factors.
Observation:
- A 2-year-old boy with Down syndrome presented with focal convulsions.
- Down syndrome is a genetic disorder associated with an increased risk of various medical conditions, including cerebrovascular abnormalities.
Findings:
- The patient was diagnosed with Moyamoya disease.
- This case illustrates a rare co-occurrence of Down syndrome and Moyamoya disease in a pediatric patient.
- Focal convulsions were the presenting symptom, indicative of cerebral ischemia.
Implications:
- This case underscores the importance of considering Moyamoya disease in pediatric patients with Down syndrome who exhibit neurological symptoms like seizures.
- Early diagnosis and management are crucial to prevent further ischemic events and improve outcomes.
- Further research into the potential link between Down syndrome and Moyamoya disease may elucidate underlying mechanisms.