Symptomatic hyperammonemia caused by a congenital portosystemic shunt.
A child with trisomy 21 had altered mental status and hyperammonemia at presentation and was found to have a congenital portosystemic shunt as a result of a congenital abnormality of the portal venous system. Anomalies of the portal venous system leading to portosystemic shunting, although they are infrequent, should be considered in the differential diagnosis of hyperammonemia.
Kitagawa
S
S
Department of Pediatrics, University of Texas Medical School, Houston 77030.
Gleason
W A
WA
Northrup
H
H
Middlebrook
M R
MR
Ueberschar
E
E
D000596:Amino Acids / Q000032:analysis; D000641:Ammonia / Q000097:blood*; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000378:metabolism; D003937:Diagnosis, Differential; D004314:Down Syndrome / Q000378:metabolism; D006801:Humans; D008297:Male; D011168:Portal System / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D014463:Ultrasonography
D000596:Amino Acids; D000641:Ammonia