Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism?
Adams-Oliver syndrome (AOS) is characterized by the association of scalp and skull defects and abnormalities of terminal limbs. Congenital heart malformations have also been reported. Hepatoportal sclerosis (HPS) is a rare cause of portal hypertension in children characterized by abnormalities of intra-hepatic portal veins, portal fibrosis, and nodular regeneration. Etiopathogenesis of these rare disorders remains unclear, but the hypothesis of vascular thrombotic mechanism has been suggested. Association of both syndromes has been reported in only one child. We now report on two unrelated children with AOS and HPS, one child harboring a factor V Leiden mutation. We hypothesize that the association of both disorders may not be fortuitous and reinforces the idea that AOS and HPS may share a vascular thrombotic mechanism.
Girard
Muriel
M
Pediatric Hepatology Bicêtre University Hospital, AP-HP, Paris France.
Amiel
Jeanne
J
Fabre
Monique
M
Pariente
Danièle
D
Lyonnet
Stanislas
S
Jacquemin
Emmanuel
E
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D006975:Hypertension, Portal / Q000473:pathology; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008099:Liver / Q000098:blood supply / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D011169:Portal Vein / Q000002:abnormalities*; D012535:Scalp / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome