Pial arteriovenous fistula in children as presenting manifestation of Rendu-Osler-Weber disease

Abstract

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.

Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia

“…Whether this is due to a lower rate of pulmonary and cerebral manifestations in children is unclear. To date, frequency estimates of pulmonary and cerebral AVMs are based on case reports and small series [8,24,26,27,[40][41][42][43][44][45][46][47][48][49][50][51], and the diagnostic yield of initial diagnostic screening procedures in asymptomatic children has not been systematically evaluated.…”

Acquired Pial Arteriovenous Fistula Following Cerebral Vein Thrombosis

“…Isolated pial arteriovenous fistulas are rare congenital lesions, usually presenting during infancy or early childhood, that may occur sporadically or may be associated with hereditary vasculopathies such as Rendu-Osler-Weber disease. 1 Acquired fistulas between pial arteries and cortical veins are very rare. We report for the first time an acquired pial arteriovenous fistula occurring after a cortical vein thrombosis.…”

Unusual Giant Cerebral Venous Varix Associated With Brain Abscess: Variant of Hereditary Hemorrhagic Telangiectasia-Case Report-

“…25,26) Furthermore, AVFs in patients with HHT commonly drain to the superficial cortical veins, either an enlarged cortical vein or a venous pouch. 7,14,15,17) This drainage pattern is different from drainage to the galenic venous system commonly seen in sporadic cerebral AVFs. 10) Therefore, we consider such a malformation to be highly suggestive of HHT.…”