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264 CONGENITAL EXTRAHEPATIC PORTAL-SYSTEMIC SHUNTS: 4 NEW CASES AND A LITERATURE REVIEW JC Gana1, M Lemaire2, M Zachos1, SC Ling1 Two types of congenital extrahepatic portosystemic shunts (CEPS) are recognized: in type 1 the intrahepatic portal venous supply is absent, while in type 2, this supply is preserved. Both have associated abnormalities, including hepatic nodular lesions, polysplenia, biliary atresia, and cardiac, skeletal and renal anomalies. Significant sequelae include developmental delay (due to portal-systemic shunting) and pulmonary hypertension. Diagnosis in the pre-symptomatic period allows screening for these complications and potentially improves outcomes.
1Division of Gastroenterology, Hepatology and Nutrition, 2Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario
OBJECTIVE: To describe the clinical features of four new cases of children with CEPS type 1 (CEPS1), and to review the relevant literature.
METHODS: The records and diagnostic imaging of four patients were evaluated. A literature review was performed.
RESULTS: Case 1 is a 5 month old female with trisomy 21, hypothyroidism, atrioventricular septal defect, epilepsy and developmental delay. CEPS1 was diagnosed during a work-up for abdominal distention. Liver enzymes and synthetic function were normal, ammonia was elevated. At age 17 months, repeat ultrasound scan (USS) shows nodular transformation of the liver. Case 2 is a non-dysmorphic female admitted at 4 months because of failure to thrive, found to have ventricular septal defect (VSD), patent ductus arteriosus, bilateral superior vena cava and CEPS1. Liver enzymes were elevated pre- and post-cardiac surgery, but subsequently normalized. Mild hyperammonemia persisted. Medication with Clopidogrel was discontinued due to its reliance on hepatic first pass metabolism. Case 3 is a 12 year old male with history of abdominal pain with USS of the liver that showed CEPS1 and three hepatic masses. MRI and liver biopsy confirmed multiple focal nodular hyperplasia. Liver enzymes were mildly elevated. Case 4 is a 5 month old female born with a large perimembranous VSD and a patent foramen ovale as well as a left superior vena cava to the coronary sinus. The patient developed significant congestive heart failure and required surgery. CEPS1 was diagnosed during the work-up. Liver enzymes, INR and ammonia were mildly elevated. In all 4 cases, there was no evidence of portal or pulmonary hypertension.
CONCLUSION: CEPS1 is a rare vascular anomaly found in association with other congenital anomalies and should be considered in the differential diagnosis of hyperammonemia. Management consists of surveillance for complications, such as hyperammonemia and pulmonary hypertension. Pharmacologic consequences of reduced first pass metabolism should be considered.