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Abstract：
BACKGROUND: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. Atrial septal defect is one of the most common congenital heart diseases, occurring when the connection between the left and the right atriums fails to close. Polydactyly is one of the most common congenital malformations of the hands and feet. It manifests in excess fingers on the hands or toes.
METHODS: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved.
CONCLUSIONS: The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology.
METHODS: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved.
CONCLUSIONS: The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology.
摘要：
背景：Caroli病是连接到主管的大型肝内胆管的多灶性节段扩张。它被认为是一种罕见的疾病，发病率为1,000,000个婴儿中的1个。Caroli有两种类型：第一种类型是简单类型，Caroli病,其中仅包括肝内胆管的囊性扩张。第二种叫做Caroli综合征,由Caroli病和先天性肝纤维化组成，可能导致门静脉高压，导致食管静脉曲张和脾肿大。房间隔缺损是最常见的先天性心脏病之一。当左右心房之间的连接无法关闭时发生。多指畸形是手脚最常见的先天性畸形之一。它表现为手或脚趾上多余的手指。
方法：一名6岁的阿拉伯女孩因腹部肿大而上月因腹痛入院。患者出生时已被诊断出患有Caroli病和多指（每条肢体上有六个手指）。包括全血细胞计数在内的调查,血涂片,骨髓活检,食管镜检查,腹部超声，计算机断层扫描显示脾肿大与脾功能亢进有关，四级非出血静脉曲张,左叶和右叶的肝内囊性形成，和左向右分流的房间隔缺损。在患者接种适当的疫苗后，她计划进行脾切除术。在医院随访一周后，全血细胞计数有改善.一个月后,患者有肝脓肿和胆瘘,经适当治疗,症状得到缓解.
结论：肝脏疾病的关联，多指,先天性心脏病极为罕见，文献中只记载了几次。然而,根据我们的知识，房间隔缺损以前从未参与过这种组合.家族史也使这种情况变得独特，并强烈暗示了遗传病因。
方法：一名6岁的阿拉伯女孩因腹部肿大而上月因腹痛入院。患者出生时已被诊断出患有Caroli病和多指（每条肢体上有六个手指）。包括全血细胞计数在内的调查,血涂片,骨髓活检,食管镜检查,腹部超声，计算机断层扫描显示脾肿大与脾功能亢进有关，四级非出血静脉曲张,左叶和右叶的肝内囊性形成，和左向右分流的房间隔缺损。在患者接种适当的疫苗后，她计划进行脾切除术。在医院随访一周后，全血细胞计数有改善.一个月后,患者有肝脓肿和胆瘘,经适当治疗,症状得到缓解.
结论：肝脏疾病的关联，多指,先天性心脏病极为罕见，文献中只记载了几次。然而,根据我们的知识，房间隔缺损以前从未参与过这种组合.家族史也使这种情况变得独特，并强烈暗示了遗传病因。
