Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report.

ABSTRACT:

Background

Alagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene. It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems, such as the cardiovascular, skeletal, and urinary systems.

Case summary

We report a rare case of ALGS. A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease: Total anomalous pulmonary venous connection (TAPVC). Sustained jaundice, particularly with cardiac murmur, caught our attention. Laboratory tests revealed elevated levels of alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transpeptidase, total bilirubin, and total bile acids, indicating ser

SUBMITTER: Zeng HS 

PROVIDER: S-EPMC9477039 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature