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Familial intracranial aneurysms and cerebral vascular anomalies
Insights
This study highlights a family with a high incidence of intracranial aneurysms, suggesting a hereditary component. Early screening of asymptomatic relatives is recommended in such families.
Area of Science:
- Neurology
- Genetics
- Vascular Surgery
Background:
- Intracranial aneurysms (IAs) are a significant cause of morbidity and mortality.
- Familial aggregation of IAs suggests a potential genetic predisposition.
Observation:
- A family presented with multiple affected members, including one with surgically treated multiple IAs.
- Asymptomatic individuals within the family were found to have IAs upon elective angiography.
- Cerebrovascular anomalies were prevalent among family members, and parental consanguinity was noted.
Findings:
- The observed high incidence of IAs and associated anomalies, coupled with consanguinity, strongly suggests a hereditary basis for the condition.
- Chromosome banding analysis was performed on affected and unaffected siblings.
Implications:
- Prophylactic screening via elective angiography is warranted for asymptomatic members of families with multiple IA cases.
- Understanding the genetic underpinnings of IA susceptibility can inform future diagnostic and therapeutic strategies.
Abstract:
The author reports a family in which four members had intracranial aneurysms and one additional member was suspect. One member had multiple aneurysms that were successfully treated surgically. Elective angiography on five asymptomatic members of the family disclosed asymptomatic aneurysms in two. In addition, cerebrovascular anomalies were found in many of the family members. The parents of the family were consanguineous. High incidence of these associated anomalies and consanguinity in the parents tend to suggest the hereditary basis of the disease. Banding analysis of chromosomes in three siblings with aneurysms and three siblings without aneurysms was carried out. Elective investigation of the asymptomatic members should be considered where there are already two or more affected in a family. The indications for surgical prophylaxis on asymptomatic aneurysms in other members of the family are discussed.