Department of Gastroenterology, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, China.
Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, China.
Medicine (Baltimore). 2023 Dec 15;102(50):e36573. doi: 10.1097/MD.0000000000036573.
The 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.
The clinical manifestation of a 10-year-old girl was subcutaneous hemorrhage.
Magnetic resonance imaging (MRI ) indicates that the person may have Caroli disease, cirrhosis, splenomegaly, portal hypertension, esophagogastric fundal varices, or sponge kidneys.
The patient was advised for liver transplantation.
The 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.
This 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.
Caroli 病是一种罕见的先天性疾病，其特征为肝内胆管扩张，源于 PKHD1 基因突变。Caroli 综合征的特征为肝内胆管扩张伴先天性肝纤维化，与常染色体隐性多囊肾病相关。Caroli 病的临床表现不典型，容易漏诊和误诊。因此，我们报告了这个病例，希望提高临床医生对该病的认识。
一位 10 岁女孩的临床表现为皮下出血。
磁共振成像（MRI）提示可能患有 Caroli 病、肝硬化、脾肿大、门静脉高压、胃底食管静脉曲张或海绵肾。
建议患者进行肝移植。
患者父母未采纳我们的治疗建议，要求前往更好的医院进一步治疗，因此我们未对患者进行任何治疗。
本病例提醒我们，在临床遇到血友病患者时，不仅要考虑血液系统疾病和肝硬化，还要进行上腹部 MRI 和磁共振胰胆管成像，以排除 Caroli 病。
