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Familial arteriovenous malformations in children
R J Brilli1, A Sacchetti, S Neff
1Emergency Department, Cooper, Hospital/University Medical Center, Camden, New Jersey, USA.
Insights
Cerebral arteriovenous malformations (AVMs) are rare in children, with few documented familial cases. This study highlights a family with two affected siblings, emphasizing the need for emergency physicians to recognize this rare pediatric condition.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Cerebral arteriovenous malformations (AVMs) are rare vascular anomalies in the brain.
- Familial occurrence of cerebral AVMs is exceptionally uncommon, with only 10 families previously reported worldwide.
Observation:
- This report details a family with two affected siblings presenting with cerebral AVMs.
- The two youngest siblings in the family were diagnosed with this vascular anomaly.
Findings:
- The familial incidence of cerebral AVMs is extremely low.
- The observed cases suggest a potential genetic predisposition or shared environmental factors in this family.
Implications:
- This case underscores the importance of considering cerebral AVMs in pediatric patients, especially with a family history.
- Emergency physicians should be aware of this rare condition for timely diagnosis and management.
- Further research into the genetic basis of familial cerebral AVMs may be warranted.
Abstract:
Cerebral arteriovenous malformations are uncommon in children. Familial incidence of these lesions is reported in only 10 families. We report a family in which the two youngest siblings had this anomaly, and we review the literature. These cases represent a clinical situation that emergency physicians may encounter.