Arteriovenous fistula and portal hypertension in a child with Down syndrome.

severe portal hypertension and episodes of recurrent gastrointestinal bleeding that required blood transfusions and upper gastrointestinal variceal sclerotherapy. At physical examination, the patient was found to have Down-characteristic dysmorphic facies, hepatomegaly, significant splenomegaly, and increased abdominal venous markings. No abdominal murmur was heard, and no thrill was palpated. Laboratory studies showed a total bilirubin level of 1.7 mg/dl (mainly indirect), hemoglobin 8.3 g/dl, and platelet count 40 K/μl. Other blood biochemical parameters (including liver function tests) and arterial blood gasses and coagulation profile were within normal range. Abdominal and Doppler sonography showed splenomegaly and hepatomegaly, with the liver exhibiting a non-homogeous echo-texture, suspicious for cirrhotic liver. There were no focal lesions. A waveform signal of arterial flow was demonstrated near the liver, compatible with pre-hepatic AVF. Liver biopsy exhibited mild fibrosis