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Case Report
  |   Neonatal Med_24_3_140_144.pdf
Neonatal Med August;24(3):140-144.
Published online 2017 August 31
Copyright ⓒ 2017 Neonatal Medicine Neonatal Medicine
Alagille Syndrome Mimicking Biliary Atresia Confirmed by Jagged1 (JAG1) Gene Analysis in a Newborn: A Case Report
Hui Jeong Yun, M.D., Chul Jun Cho, M.D., Yong Wook Kim, M.D., Eun Young Kim, M.D., Hyung Min Cho, M.D., Young Kim, M.D., Hae In Jang, M.D., and Kyoung Sim Kim, M.D.
Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea
Corresponding Author: Kyoung Sim Kim , Tel: +82-62-650-5040 , Fax: +82-62-650-5045 , Email: kskim000@naver.com
Alagille syndrome is a complex autosomal dominant disorder secondary to defects in the Notch signaling pathway, primarily caused by mutations in the Jagged1 (JAG1) gene. The liver, heart, skeleton, face and eyes are the body parts most commonly involved. Alagille syndrome may mimic other causes of high gamma-glutamyl transferase (GGT)-linked cholestasis, most notably biliary atresia in the neonatal period. Infants with Alagille syndrome are occasionally misdiagnosed as cases with biliary atresia due to variations in clinical features that might be expressed in early infancy. We describe a case of Alagille syndrome mimicking biliary atresia, identified by sequencing analysis of the JAG1 gene in a newborn. During counseling, family members of the patient have also been found to demonstrate various phenotypes and levels of disease severity of Alagille syndrome.
Keywords: Alagille syndrome, Biliary atresia, Cholestasis
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