Related Experiment Videos
[Familial occurrence of intracranial arteriovenous malformation]
Abstract:
It is beyond that cerebral arteriovenous malformation (AVM) is a congenital disease based on abnormal vascular formation in the embryonic stage. Nevertheless, familial occurrence of cerebral AVMs has been previously reported only in five families throughout the world, when complications of specific diseases such as Sturge-Weber-Dimitri disease, von Hippel-Lindaeu disease, and Osler-Rendu-Weber disease were ruled out. We have recently encountered four cases of two familial AVMs. In this paper, we review nineteen cases of nine familial AVMs from literature including our four cases from two families. Case 1: A 50-year-old male was admitted in June, 1975, for clonic convulsion. Cerebral angiography showed an AVM situated in the left parietal region, which was supplied from callosomarginal and central arteries. Total excision of the AVM was performed. The patient was completely cured and discharged without abnormal neurological deficits. Case 2: A 16-year-old male was admitted in May, 1978, with about ten years history of general convulsions. This patient was the third child of Case 1. Cerebral angiography revealed an AVM situated in the right parietal region, which was supplied from callosomarginal and precentral arteries. Total resection of the AVM was performed. The patient was completely cured. Case 3: An 11-year-old boy was admitted to our hospital in a comatose state in January, 1978, and soon died. Cerebral angiography showed only presence of internal hydrocephalus. The autopsy revealed a hematoma in the right cerebellar hemisphere with bilateral intraventricular hematomas, and AVM was histologically found in the cerebellum.(ABSTRACT TRUNCATED AT 250 WORDS)
Insights
Familial occurrence of cerebral arteriovenous malformations (AVMs) is rare. This study reviews nine familial AVM cases, including four new cases, highlighting the genetic component of this congenital vascular disease.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral arteriovenous malformations (AVMs) are congenital vascular abnormalities.
- Familial occurrence of cerebral AVMs is exceptionally rare, with only five families previously reported.
- Exclusion of specific genetic syndromes (Sturge-Weber-Dimitri, von Hippel-Lindaeu, Osler-Rendu-Weber) is crucial in diagnosing familial AVMs.
Observation:
- The study presents four new cases from two families with cerebral AVMs.
- A total of nine familial AVM cases, including the four new ones, are reviewed from existing literature.
- Case details include patient demographics, AVM location, vascular supply, and treatment outcomes.
Findings:
- Cerebral angiography confirmed AVMs in multiple family members.
- Surgical excision of AVMs resulted in complete cure for some patients.
- One case demonstrated AVM in the cerebellum with severe neurological complications, leading to death.
Implications:
- The findings suggest a potential genetic predisposition for cerebral AVMs.
- Further research into the genetic basis of familial AVMs is warranted.
- Understanding familial aggregation can aid in early diagnosis and management of AVMs.