PIAL ARTERIOVENOUS-FISTULA IN CHILDREN AS PRESENTING MANIFESTATION OFRENDU-OSLER-WEBER DISEASE

We present four cases of pial arteriovenous fistula (AVF) in children as the presenting manifestation of Rendu-Osler-Weber disease (ROW). Th e common clinical manifestations of ROW in adults, such as skin telang iectasia and mucosal haemorrhagic complications, seldom occur in child ren, since telangiectases develop with age. Pial AVF in ROW also confo rm to the usual age incidence and are therefore present in childhood. Of the four children in this series, three had multiple AVF. Two prese nted with central nervous system haemorrhage, one with seizures and th e other with progressive neurological deficit. There were no clinical or angioarchitectural differences between the AVF associated with ROW and sporadic AVE The diagnosis was based in all cases on the family hi story. Transarterial embolisation to obliterate the AVF was carried ou t in all patients. One patient had early rebleeding after partial embo lisation of the AVF, with a fatal out come. Three patients were cured and one asymptomatic in long-term follow up. No exhaustive search was conducted for multiorgan telangiectases, since there is no indication for treatment of asymptomatic telangiectasia in ROW. No pulmonary fist ulae were found. ROW should be suspected in children with multiple pia l AVF; they may be the only manifestation of the disease, since epista xis and telangiectasia are unusual in early life.