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Tuberous sclerosis complex with multiple intracranial aneurysms in an infant
Po-Cheng Hung1, Huei-Shyong Wang, Ming-Liang Chou
1Division of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Taoyuan, Taiwan. hongfh@ms14.hinet.net
Insights
Tuberous sclerosis complex (TSC) can cause vascular issues. This case highlights multiple brain aneurysms in an infant with TSC, suggesting arterial dysplasia and developmental defects as potential causes.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder with diverse clinical manifestations.
- Vascular abnormalities, including occlusive disease and aneurysms, are known complications in TSC patients.
- Cerebral artery aneurysms are rare but documented in individuals with TSC.
Observation:
- A case report of an 8-month-old boy with diagnosed tuberous sclerosis complex.
- The patient presented with multiple intracranial aneurysms.
- Aneurysms involved critical cerebral arteries, specifically the internal carotid artery and middle cerebral artery.
Findings:
- The co-occurrence of multiple intracranial aneurysms in this infant with TSC is unusual.
- The findings support the hypothesis of underlying arterial dysplasia in TSC.
- Developmental defects are proposed as a contributing factor to aneurysm formation in this context.
Implications:
- This case underscores the importance of considering vascular surveillance in infants with TSC.
- Further research into the pathogenesis of arterial dysplasia in TSC is warranted.
- Understanding these associations may improve diagnostic and management strategies for TSC-related vascular complications.
Abstract:
Tuberous sclerosis complex is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of signs and clinical features. Occlusive vascular disease and aneurysms of the cerebral and visceral arteries were described in these patients. We report on an 8-month-old boy who manifested tuberous sclerosis complex with multiple intracranial aneurysms involving the internal carotid artery and middle cerebral artery. The unusual features of our case favor the concepts of the presence of an arterial dysplasia in tuberous sclerosis complex, and of developmental defects as the cause of intracranial aneurysms.
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