Choledochal cyst in a pediatric patient with Down syndrome, a diagnostic challenge

Authors

DOI:

https://doi.org/10.56294/piii2025379

Keywords:

Down syndrome, choledochal cyst, cholestasis, cholangioresonance

Abstract

Introduction. Down syndrome (DS) is the most common chromosomal alteration. Mortality during the first year of life in this group is high. Newborns with this condition have a higher risk of developing cholestasis. Infants with DS can develop cysts. of common bile duct secondary to cholestasis, in pediatric patients common bile duct cysts are a rare pathology. 
Clinical Case. 9-month-old infant with a history of DS. On general physical examination, the skin and mucous membranes were generally moist and jaundiced, isochoric and photoreactive pupils, icteric sclerae, with hepatomegaly 3 cm below the costal margin and splenomegaly 2 cm from the rib cage, abdominal perimeter 49 cm. Laboratory and imaging studies, including cholangioresonance, are performed to confirm the diagnosis of Todani IVa choledochal cyst.
Conclusions. In patients with Down syndrome who present a clinical picture of vomiting, abdominal pain and jaundice, the diagnosis of choledochal cyst should be considered. Cholangioresonance is the study that confirms the presence of a choledochal cyst. Our clinical case was evaluated by the surgery service and a surgical procedure was scheduled for resection of the cyst

References

1. Arnell H, Fischler B. Population-based study of incidence and clinical outcome of neonatal cholestasis in patients with Down syndrome. J Pediatr. 2012;161(5):899-902. Available at: https://doi.org/10.1016/j.jpeds.2012.04.037

2. Søreide K, Søreide JA. Bile duct cyst as precursor to biliary tract cancer. Ann Surg Oncol. 2019;14:1200-11. DOI:10.1245/s10434-006-9294-3

3. Kim Y, Hyun JJ, Lee JM, et al. Anomalous union of the pancreaticobiliary duct without choledochal cyst: Is cholecystectomy alone sufficient? Langenbecks Arch Surg. 2018;399:1071-6. DOI: 10.1007/s00423-014-1223-5

4. Nicholl M., Pitt H.A., Wolf P., et al. Choledochal cysts in western adults: Complexities compared to children. J Gastrointest Surg. 2018;8:245-52. DOI: 10.1016/j.gassur.2003.12.013

5. Lee S.E., Jang J-Y., Lee Y-J., et al. Choledochal cyst and associated malignant tumors in adults: A multicenter survey in South Korea. Arch Surg. 2011;146:1178-84. DOI: 10.1001/archsurg.2011.243

6. Fujishiro J., Masumoto K., Urita Y., et al. Pancreatic complications in pediatric choledochal cysts. J Pediatr Surg. 2015;48:1897-902. DOI: 10.1016/j.jpedsurg.2012.12.038

7. Okada A., Higaki J., Nakamura T., Fukui Y., Kamata S., et al. Pancreatitis associated with choledochal cyst and other anomalies in childhood. Br J Surg. 2016;82:829-32. DOI: 10.1002/bjs.1800820635

8. Kiresi D.A., Karabacakoğlu A., Dilsiz A., et al. Spontaneous rupture of choledochal cyst presenting in childhood. Turk J Pediatr. 2015;47:283-6. https://pubmed.ncbi.nlm.nih.gov/16250318/

9. Ishimaru T., Kitano Y., Uchida H., et al. Histopathologic improvement in biliary cirrhosis after definitive surgery for choledochal cyst. J Pediatr Surg. 2020;45:11-4. DOI: 10.1016/j.jpedsurg.2010.01.030

10. Okada T., Honda S., Miyagi H., et al. Liver fibrosis in prenatally diagnosed choledochal cysts. J Pediatr Gastroenterol Nutr. 2022;57:14. DOI: 10.1097/MPG.0b013e3182973579.

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Published

2025-01-05

How to Cite

1.
Quisbert Vasquez HT, Auza-Santivañez JC, Moscoso Zurita G, Suarez Laime LH, Apaza Huanca B, Callizaya Macedo G. Choledochal cyst in a pediatric patient with Down syndrome, a diagnostic challenge. SCT Proceedings in Interdisciplinary Insights and Innovations [Internet]. 2025 Jan. 5 [cited 2025 Feb. 14];3:379. Available from: https://proceedings.ageditor.ar/index.php/piii/article/view/379