Abstract
Abstract
Introduction
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.
Case presentation
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.
Conclusion
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.
Publisher
Springer Science and Business Media LLC
Reference19 articles.
1. Umar J, Kudaravalli P, John S. Caroli disease. In: StatPearls. StatPearls Publishing; 2022.
2. Wang ZX, Li YG, Wang RL, Li YW, Li ZY, Wang LF, Yang HY, Zhu Y, Wang Y, Bai YF, He TT, Zhang XF, Xiao XH. Clinical classification of Caroli’s disease: an analysis of 30 patients. HPB (Oxford). 2015;17(3):278–83.
3. Calinescu-Tuleasca AM, Bottani A, Rougemont AL, Birraux J, Gubler MC, Le Coultre C, Majno P, Mentha G, Girardin E, Belli D, Wildhaber BE. Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. Eur J Pediatr. 2013;172(7):877–81.
4. Wang S, Xiao M, Hua L, Jia Y, Chen S, Zhang K. Endoscopic therapy for gastro-oesophageal varices of Caroli’s syndrome: a case report. J Int Med Res. 2020;48(2):300060519877993.
5. Cabral Correia P, Morgado B. Caroli’s disease as a cause of chronic epigastric abdominal pain: two case reports and a brief review of the literature. Cureus. 2017;9(9): e1701.
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