PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: The clinical manifestation of a 10-year-old girl was subcutaneous hemorrhage.
METHODS: Magnetic resonance imaging (MRI ) indicates that the person may have Caroli disease, cirrhosis, splenomegaly, portal hypertension, esophagogastric fundal varices, or sponge kidneys.
METHODS: The patient was advised for liver transplantation.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: The clinical manifestation of a 10-year-old girl was subcutaneous hemorrhage.
METHODS: Magnetic resonance imaging (MRI ) indicates that the person may have Caroli disease, cirrhosis, splenomegaly, portal hypertension, esophagogastric fundal varices, or sponge kidneys.
METHODS: The patient was advised for liver transplantation.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：Caroli病是一种罕见的先天性疾病，以肝内胆管扩张为特征，由PKHD1基因突变引起。Caroli综合征,以肝内胆管扩张伴先天性肝纤维化为特征，与常染色体隐性遗传性多囊肾病有关.Caroli病的临床表现不典型,Caroli病容易漏诊和误诊。因此,我们报道了这个病例，希望提高临床医生对这种疾病的认识。
方法：1例10岁女童临床表现为皮下出血。
方法：磁共振成像（MRI）表明患者可能患有Caroli病，肝硬化,脾肿大,门静脉高压症,食管胃底静脉曲张，或海绵肾。
方法：建议患者进行肝移植。
结果：患者父母没有接受我们的治疗建议，他们要求去更好的医院接受进一步的治疗，所以我们没有给病人任何治疗。
结论：这个案例提醒我们，如果我们在诊所遇到血友病患者，我们不仅应该考虑血液病和肝硬化，还要进行上腹部MRI和磁共振胰胆管造影术以排除Caroli病。
方法：1例10岁女童临床表现为皮下出血。
方法：磁共振成像（MRI）表明患者可能患有Caroli病，肝硬化,脾肿大,门静脉高压症,食管胃底静脉曲张，或海绵肾。
方法：建议患者进行肝移植。
结果：患者父母没有接受我们的治疗建议，他们要求去更好的医院接受进一步的治疗，所以我们没有给病人任何治疗。
结论：这个案例提醒我们，如果我们在诊所遇到血友病患者，我们不仅应该考虑血液病和肝硬化，还要进行上腹部MRI和磁共振胰胆管造影术以排除Caroli病。
