Extrahepatic portal hypertension due to familial protein S deficiency.
Portal vein thrombosis (PVT) is a common cause of portal hypertension in children. A majority of children with PVT of unknown etiology have functional Protein C deficiency or abnormally elevated levels of anti-cardiolipin antibodies. We report an 8 years old Indian girl with portal cavernoma due to hereditary Protein S deficiency. We documented familial deficiency of Protein S in 2 asymptomatic siblings suggesting that this deficiency is the primary cause of portal vein thrombosis.
Shah
Ira
I
Department of Pediatric Hepatobiliary Clinic, B J Wadia Hospital for Children, Parel, Mumbai 400 012, India. irashah@pediatriconcall.com
Bhatnagar
Sushmita
S
D002648:Child; D005260:Female; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology*; D011169:Portal Vein; D018455:Protein S Deficiency / Q000150:complications* / Q000235:genetics; D020246:Venous Thrombosis / Q000150:complications