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Homocystinuria presenting as fatal common carotid artery occlusion
Insights
Homocystinuria, a metabolic disorder, can cause severe stroke in young individuals. Metabolic screening is crucial for patients with unexplained vascular lesions like carotid artery occlusion.
Area of Science:
- Neurology
- Metabolic Disorders
- Vascular Medicine
Background:
- Homocystinuria is a rare inherited metabolic disorder affecting amino acid metabolism.
- Vascular complications, including stroke, are known but often present later in life.
Observation:
- A 13-year-old previously healthy girl experienced progressive cerebral infarction.
- Cerebral angiography revealed left common carotid artery occlusion and bilateral vertebral artery stenosis.
Findings:
- Initial suspicion of Takayasu arteritis was ruled out.
- Subsequent investigations identified homocystinuria as the underlying cause of the extensive vascular lesions.
Implications:
- This case highlights the potential for homocystinuria to manifest as sudden, fatal stroke in adolescents.
- Metabolic screening for homocystinuria should be considered in young patients presenting with unusual or severe cerebrovascular disease.
Abstract:
A patient with homocystinuria presenting with fatal cerebral infarction that resulted from left common carotid artery occlusion is reported. This 13-year-old, healthy and intelligent girl presented with progressive cerebral infarction. Angiography revealed total occlusion of the left common carotid artery and stenosis of the right common carotid artery. Distal stenosis of bilateral vertebral arteries was also observed. Initially Takayasu arteritis with unusual manifestation was considered. However, later investigations revealed homocystinuria was the underlying cause. The sudden onset of fatal stroke as the initial clinical presentation of homocystinuria, as observed in this previous healthy teenager, is noteworthy. We suggest metabolic screening for homocystinuria when treating a patient with unusual vascular lesions.