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Pial arteriovenous fistula in children as presenting manifestation of Rendu-Osler-Weber disease.
Neuroradiology 1995 January
We present four cases of pial arteriovenous fistula (AVF) in children as the presenting manifestation of Rendu-Osler-Weber disease (ROW). The common clinical manifestations of ROW in adults, such as skin telangiectasia and mucosal haemorrhagic complications, seldom occur in children, since telangiectases develop with age. Pial AVF in ROW also conform to the usual age incidence and are therefore present in childhood. Of the four children in this series, three had multiple AVF. Two presented with central nervous system haemorrhage, one with seizures and the other with progressive neurological deficit. There were no clinical or angioarchitectural differences between the AVF associated with ROW and sporadic AVF. The diagnosis was based in all cases on the family history. Transarterial embolisation to obliterate the AVF was carried out in all patients. One patient had early rebleeding after partial embolisation of the AVF, with a fatal outcome. 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 fistulae were found. ROW should be suspected in children with multiple pial AVF; they may be the only manifestation of the disease, since epistaxis and telangiectasia are unusual in early life.
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