2020 Volume 56 Issue 4 Pages 392-395
The patient was a 39-day-old female infant who was referred to our institution owing to jaundice exacerbation and acholic stool. We found trabecular gallbladder by abdominal ultrasonography. Since biliary excretion was not found by biliary scintigraphy, we performed exploratory laparotomy at the age of 50 days. Owing to the unclear contrast images of the intrahepatic bile duct obtained by intraoperative cholangiography, we diagnosed it as III-a2-ο biliary atresia and then performed Kasai hepatoportoenterostomy. We started a detailed examination owing to the suspicion of Alagille syndrome (AGS) in the postoperative liver biopsy. Peripheral pulmonary artery stenosis and butterfly vertebra were detected as an extrahepatic lesion, and a Jagged1 (JAG1) gene mutation was also detected in the genetic examination. In the case of suspicion of biliary atresia in a newborn infant or infantile jaundice, since it would be difficult to differentiate AGS on the basis of the findings of preoperative blood tests, imaging tests, and intraoperative cholangiography, we should consider X-ray examination of the vertebral body, a search for extrahepatic lesions of AGS by imaging such as echocardiography, and liver biopsy in intraoperative detection at the time when the condition is suspected.
