Ruptured arteriovenous malformation in a boy with Beckwith-Wiedemann syndrome

We report here the first case of ruptured arteriovenous malformation (AVM) in a patient with Beckwith-Wiedemann syndrome (BWS). The subject was a 9-year-old boy exhibiting various abnormal features characteristic of BWS, who had undergone frequent surgical management for conditions such as umbilical hernia, polydactyly, inguinal hernia, cleft palate and lip, and undescended testis. The patient was suffering from ruptured AVM in the right frontal lobe, which was successfully managed with surgical interventions. The possible genetic mechanisms that formed the cerebral vascular malformations in this patient are discussed.