Biliary atresia: Presentation of a clinical case with late diagnosis and treatment
DOI:
https://doi.org/10.35954/SM2026.45.2.7.e501Keywords:
biliary atresia, cholestasis, early diagnosis, jaundice neonatal, portoenterostomy hepatic, hyperbilirubinemia neonatal, child nutrition disordersAbstract
Introduction: Neonatal cholestasis is characterized by a decrease or interruption in bile flow, leading to intrahepatic bile accumulation and progressive hepatocellular damage. It is defined by direct bilirubin levels >1 mg/dL, regardless of total bilirubin levels, and may be a manifestation of multiple diseases, most notably biliary atresia, which is the leading cause of obstructive jaundice and pediatric liver transplantation.
Objective: To analyze, based on a clinical case of biliary atresia, the importance of early diagnosis and timely treatment, as well as their impact on liver function and nutritional status.
Clinical case: A 2-month-and-22-day-old male infant was treated at the Hospital Centralde las Fuerzas Armadas for persistent jaundice and had been receiving irregular follow-up care. He was readmitted for generalized jaundice, choluria, and acholia, along with severe malnutrition. He presented with hepatomegaly and mild splenomegaly. He went on to show restoration of bile flow, clinical improvement, and nutritional recovery.
Discussion: Persistent jaundice requires early evaluation of direct bilirubin levels. Conjugated hyperbilirubinemia is an early marker of cholestasis, and its timely detection allows for early intervention. Biliary atresia may present with a good initial general condition; therefore, assessing the color of the stools is essential. Delayed diagnosis reduces the effectiveness of the Kasai procedure, especially after 60 days of life. Cholestasis is associated with malabsorption and malnutrition, requiring a multidisciplinary approach and intensive nutritional support. Neonatal screening and timely access to the healthcare system are key prognostic factors.
Conclusions: Prolonged jaundice should be investigated early. Early diagnosis and timely intervention improve liver function and nutritional status. Systematic follow-up and a multidisciplinary approach are essential in patients with biliary atresia.
NOTE: This article was approved by the Editorial Board.
Received for review: February 2026.
Accepted for publication: April 2026.
Publication date: July 2026.
Correspondence: Manila 2364 esq Mallorca. Zip Code 11600. Tel.: (+598) 092491208. Montevideo, Uruguay.
Contact email: karina.helguera@gmail.com
Downloads
References
Feldman AG, Sokol RJ. Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention. Neoreviews. 2021 Dec 1; 22(12):e819-e836. PMID:34850148; PMCID: PMC10103174. https://doi.org/10.1542/neo.22-12-e819
Fawaz R, Baumann U, Ekong U, Fischler B, Hadzić N, Mack CL, et al. Guideline for the evaluation of cholestatic jaundice in infants: Joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. 2017; 64(1):154-168. https://doi.org/10.1097/MPG.0000000000001334
Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, editors. Nelson Textbook of Pediatrics. 21st ed. Philadelphia: Elsevier, 2020.
Godoy M, López C, Álvarez Chávez F, Borges Pinto R, Botero Osorio V, Dolz Aguilar MV, Higuera M, Michel Aceves RJ, Ríos Marcuello G, Rodríguez González L, Rojo Lillo C, Soriano HE, Ciocca M. Colestasis neonatal: revisión narrativa del grupo de trabajo de la Sociedad Latinoamericana de Gastroenterología, Hepatología y Nutrición Pediátrica. Acta Gastroenterol Latinoam. 2022; 52(3):344-354. https://doi.org/10.52787/agl.v52i3.134
Bezerra JA, Wells RG, Mack CL, Karpen SJ, Hoofnagle JH, Doo E, Sokol R. Biliary atresia. Lancet. 2018; 391(10125):1301-1313. https://doi.org/10.1002/hep.29905
Davenport M, Sinha CK. Biliary atresia: diagnostic challenges. J Indian Assoc Ped Surg. 2008; 13(2):49. https://doi.org/10.4103/0971-9261.43015
Mack CL, Sokol RJ. Narkewicz MR, Karrer FM. Pathogenesis and outcome of biliary atresia: Current concepts. J Ped Gastroenterand Nut 2003; 37:4-21.
Sundaram SS, Mack CL, Feldman AG, Sokol RJ. Biliary atresia: Indications and timing of liver transplantation and optimization of pretransplant care. Liver Transpl. 2017 Jan; 23(1):96-109. PMID:27650268; PMCID: PMC5177506. https://doi.org/10.1002/lt.24640
Reyes-Cerecedo A, Flores-Calderón J, Villasis-Keever MÁ, Chávez-Barrera JA, Delgado-González EE. Uso de la tarjeta colorimétrica visual para la detección oportuna de atresia de vías biliares. Bol Med Hosp Infant Mex. 2018; 75(3):160-165. https://www.scielo.org.mx/pdf/bmim/v75n3/1665-1146-bmim-75-03-160.pdf
Harpavat S, Ramraj R, Finegold MJ, Brandt ML, Hertel PM, Fallon SC, Shepherd RW, Shneider BL. Newborn Direct or Conjugated Bilirubin Measurements As a Potential Screen for Biliary Atresia. J Pediatr Gastroenterol Nutr. 2016 Jun; 62(6):799-803. PMID:26720765. https://doi.org/10.1097/MPG.0000000000001097
Harpavat S, Garcia-Prats JA, Anaya C, Brandt ML, Lupo PJ, Finegold MJ, Obuobi A, ElHennawy AA, Jarriel WS, Shneider BL. Diagnostic Yield of Newborn Screening for Biliary Atresia Using Direct or Conjugated Bilirubin Measurements. JAMA. 2020 Mar 24; 323(12):1141-1150. PMID:32207797; PMCID: PMC7093763. https://doi.org/10.1001/jama.2020.0837
Normatov I, Kaplan S, Azzam RK. Nutrition in Pediatric Chronic Liver Disease. Pediatr Ann. 2018 Nov 1; 47(11):e445-e451. PMID:30423187. https://doi.org/10.3928/19382359-20181022-03
Baker A, Stevenson R, Dhawan A, Goncalves I, Socha P, Sokal E. Guidelines for nutritional care for infants with cholestatic liver disease before liver transplantation. Pediatr Transplant. 2007 Dec; 11(8):825-34. PMID:17976116. https://doi.org/10.1111/j.1399-3046.2007.00792.x
Send SR. Nutritional Management of Cholestasis. Clin Liver Dis (Hoboken). 2020 Feb 25; 15(1):9-12. PMID:32104570; PMCID: PMC7041952. https://doi.org/10.1002/cld.865
Kemper AR, Newman TB, Slaughter JL, Maisels MJ, Watchko JF, Downs SM, Grout RW, Bundy DG, Stark AR, Bogen DL, Holmes AV, Feldman-Winter LB, Bhutani VK, Brown SR, Maradiaga Panayotti GM, Okechukwu K, Rappo PD, Russell TL. Clinical Practice Guideline Revision: Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation. Pediatrics. 2022 Sep 1; 150(3):e2022058859. PMID:35927462. https://doi.org/10.1542/peds.2022-058859
Schreiber RA, Kleinman RE. Biliary atresia. J Pediatr Gastroenterol Nutr. 2002; 35 Suppl 1:S11-16. PMID:12151815.
https://doi.org/10.1097/00005176-200207001-00005
Xing GD, Wang XQ, Duan L, Liu G, Wang Z, Xiao YH, Xia Q, Xie HW, Shen Z, Yu ZZ, Huang LM. Robotic-assisted Kasai portoenterostomy for child biliary atresia. World J Gastrointest Surg. 2024 Dec 27; 16(12):3780-3785. PMID:39734449. https://doi.org/10.4240/wjgs.v16.i12.3780
Zhou L, Shan Q, Tian W, Wang Z, Liang J, Xie X. Ultrasound for the Diagnosis of Biliary Atresia: A Meta-Analysis. AJR Am J Roentgenol. 2016 May; 206(5):W73-82. Epub 2016 Mar 24. PMID:27010179. https://doi.org/10.2214/AJR.15.15336
Ng VL, Haber BH, Magee JC, Miethke A, Murray KF, Michail S, Karpen SJ, Kerkar N, Molleston JP, Romero R, Rosenthal P, Schwarz KB, Shneider BL, Turmelle YP, Alonso EM, Sherker AH, Sokol RJ; Childhood Liver Disease Research and Education Network (CHiLDREN). Medical status of 219 children with biliary atresia surviving long-term with their native livers: results from a North American multicenter consortium. J Pediatr. 2014 Sep; 165(3):539-546.e2. Epub 2014 Jul 9. Erratum in: J Pediatr. 2015 Jan; 166(1):211. PMID:25015575; PMCID: PMC4144331. https://doi.org/10.1016/j.jpeds.2014.05.038
Squires RH, Ng V, Romero R, Ekong U, Hardikar W, Emre S, Mazariegos GV. Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline by the American Association for the Study of Liver Diseases, American Society of Transplantation and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Hepatology. 2014 Jul; 60(1):362-98. PMID:24782219. https://doi.org/10.1002/hep.27191
Feldman GA, Sundaram SS, Sokol RJ, Mack CL. Biliary atresia: Indications and timing of liver transplantation and optimization of pretransplant care. Liver Transplantation 2016; 23(1):96-109. https://doi.org/10.1002/lt.24640
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 : Karina Antonella Di Cenzo Helguera, Ana Laura Casuriaga Lamboglia, Martín Vázquez, María de Izaguirre.
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Until 2024 we use the Creative Commons Attribution/NonCommercial Attribution 4.0 International License https://creativecommons.org/licenses/by-nc/4.0/deed.es. Which states that: you are free to share, copy and redistribute the material in any medium or format, as well as to adapt, remix, transform and build upon the material. Under the following terms:
Attribution: you must give proper credit , provide a link to the license, and indicate if changes have been made . You may do so in any reasonable manner, but not in such a way as to suggest that you or your use is endorsed by the licensor.
NonCommercial: you may not use the material for commercial purposes.
As of 2025 authors retain their copyright and assign to the journal the right of first publication of their work, which shall simultaneously be subject to the license https://creativecommons.org/licenses/by-nc-sa/4.0/deed.es that permits sharing, copying and redistribution of the material in any medium or format provided that initial publication in this journal is indicated. Adapt, remix, transform and build upon the material. If you remix, transform, or build from the material, you must distribute your contribution under the same license as the original and may not make use of the material for commercial purposes.
Under the following terms:
1. Attribution: you must give proper credit, provide a link to the license, and indicate whether changes have been made. You may do so in any reasonable manner, but not in such a way as to suggest that you or your use is endorsed by the licensor.
2. NonCommercial: you may not use the material for commercial purposes.
3. ShareAlike: if you remix, transform or build upon the material, you must distribute your contribution under the same license as the original.
PlumX Metrics
