Down syndrome and Moyamoya disease: unusual cause of stroke
Carlos Tavares Bello1, Catarina Barreiros2, Inês Gil2
1Centro Hospitalar de Lisboa Ocidental-Hospital de Egas Moniz, Lisbon, Portugal.
Insights
Down syndrome, a common chromosomal disorder, can increase stroke risk. This case highlights Moyamoya disease as a rare but critical cause of cerebrovascular events in affected individuals.
Area of Science:
- Neurology
- Genetics
- Cardiology
Background:
- Down syndrome is a frequent chromosomal abnormality associated with diverse organ-specific abnormalities.
- Cardiovascular complications are common in Down syndrome, potentially increasing morbidity and mortality.
- Cerebrovascular events in Down syndrome are multifactorial, linked to congenital heart disease, vascular malformations, and risk factors.
Observation:
- Moyamoya disease, a rare occlusive vascular condition, involves stenosis of the internal carotid artery.
- This disease has been previously associated with Down syndrome.
- A case report details a 26-year-old woman with Down syndrome experiencing an acute stroke due to Moyamoya disease.
Findings:
- The case illustrates a rare clinicopathological entity.
- It underscores the association between Moyamoya disease and Down syndrome.
- Acute stroke can be a presenting symptom of Moyamoya disease in this population.
Implications:
- Increased awareness of Moyamoya disease is crucial for managing cerebrovascular risks in Down syndrome patients.
- Early diagnosis and intervention for Moyamoya disease may improve outcomes.
- This association warrants further investigation into the underlying mechanisms.
Abstract:
Down syndrome is a frequent clinical entity, being considered one of the most frequent chromosomal aberrations. It is characterised by a typical clinical phenotype and is associated with a heterogeneous group of organ and system-specific abnormalities. The cardiovascular system is commonly affected and if so, it may be associated with an increased morbidity and mortality. Cerebrovascular events in patients with Down syndrome are multifactorial, being possibly related to congenital heart disease, vascular malformations and traditional cardiovascular risk factors. Moyamoya disease is a rare chronic occlusive vascular disease causing stenosis of the distal portion of the internal carotid artery, which has been associated with Down syndrome. The authors report the case of a 26-year-old woman with Down syndrome who presented with an acute stroke secondary to Moyamoya disease. The case is noteworthy for the rarity of this clinicopathological entity, and serves as a reminder for the possible association between these two conditions.
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