• Wentai Yang and Qing Jin.
• Department of Gastroenterology, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, China.
• Medicine (Baltimore). 2023 Dec 15; 102 (50): e36573e36573.

RationalThe disease of Caroli is a rare congenital disorder, characterized by the dilated intrahepatic bile ducts, resulting from mutations in the PKHD1 gene. Caroli syndrome, characterized by dilated intrahepatic bile ducts with congenital hepatic fibrosis, is linked to autosomal recessive polycystic kidney disease. The clinical manifestations of Caroli disease are not typical, and Caroli disease is easy to be missed and misdiagnosed. Therefore, we reported this case in the hope of raising awareness of the disease among clinicians.Patient ConcernsThe clinical manifestation of a 10-year-old girl was subcutaneous hemorrhage.DiagnosesMagnetic resonance imaging (MRI ) indicates that the person may have Caroli disease, cirrhosis, splenomegaly, portal hypertension, esophagogastric fundal varices, or sponge kidneys.InterventionThe patient was advised for liver transplantation.OutcomesThe patient parents did not take our treatment advice, and they asked to go to a better hospital for further treatment, so we did not give the patient any treatment.LessonsThis case serves as a reminder that if we encounter a patient with hemophilia in our clinic, we should not only consider hematologic diseases and cirrhosis, but also perform an epigastric MRI and magnetic resonance cholangiopancreatography to rule out Caroli disease.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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