Alagille syndrome: cause of the child's cholestasis to have in account
Abstract
Background: Alagille syndrome, also known as arterio-hepatic dysplasia, is a rare disease in infants. It is a hereditary disease, of autosomal dominant transmission with incomplete penetration. Clinically, it is determined by five main characteristics: cholestasis, congenital pulmonary stenosis, butterfly-shaped vertebrae, ocular alterations, and unique features.
Objective: to present a case of an infant with Alagille syndrome as cause of chronic cholestasis.
Case report: a two month old female white patient from the Camagüey province, who was admitted to the Eduardo Agramonte Piña Pediatric Hospital in October 2018, with a history of low birth weight, who presented with icterus, coluria, acholia, peculiar phenotype (triangular face, hypertelorism, wide forehead, deep eyes, pointed chin) and insufficient weight gain. For these symptoms she is attended by the specialty of Gastroenterology.
Conclusions: the Alagille syndrome must be suspected in infants with symptoms and signs of chronic cholestasis. Their follow-up is ambulatory, in chronic hepatopaty's consultation.
DeCS: ALAGILLE SYNDROME; CHOLESTASIS; INFANT; CASE REPORTS; LIVER DISEASES.
Downloads
References
1. Ortega Pérez SN, González Santana D, Ramos Varela JC, Cañizo Fernández D, Peña Quintana L. Síndrome de Alagille; una patología que tener en cuenta. Rev Pediatr Aten Primaria [Internet]. Jul-Sep 2017 [citado 12 Ene 2019];19(75):[aprox. 4 p.]. Disponible en: https://scielo.isciii.es/pdf/pap/v19n75/1139-7632-pap-20-75-00267.pdf
2. Zafra Anta MA, Salvo Amores A, Medino Muñoz, Seoane Sanz A. Epónimos en Pediatría (16). ¿Quién fue Daniel Alagille? Canar Pediatr [Internet]. Ene-Abr 2017 [citado 12 Ene 2019];41(1):[aprox. 10 p.]. Disponible en: https://scptfe.com/wp-content/uploads/2020/03/Canarias-Pedia%CC%81trica-41-01.pdf
3. Bravo AI, Astudillo C. Estenosis aórtica severa en paciente con Síndrome de Alagille. Rev Chil Cardiol [Internet]. 2015 [citado 12 Ene 2019];34:[aprox. 6 p.]. Disponible en: https://scielo.conicyt.cl/pdf/rchcardiol/v34n3/art08.pdf
4. Román Castellini EV, Umpiérrez García I, Ponce Rodríguez FM, López Zayas MA. Evolución de paciente pediátrico con Síndrome Alagille. Reporte de caso. Rev Med Electrón [Internet]. Mar-Abr 2012 [citado 12 Ene 2019];34(2). Disponible en: http://www.revmatanzas.sld.cu/revista%20medica/ano%202012/vol2%202012/tema12.htm
5. Ortiz-C LM, Samudio-S GC. Síndrome de Alagille. Presentación de un caso. Pediatr (Asunción) [Internet]. Abr 2014 [citado 12 Ene 2019];41(1):[aprox. 6 p.]. Disponible en: http://scielo.iics.una.py/pdf/ped/v41n1/v41n1a07.pdf
6. Silverio García CE. Colestasis Neonatal y del Lactante. En: Paniagua Estévez ME, Piñol Jiménez FN, editores. Gastroenterología y hepatología clínica. La Habana: ECIMED; 2016. p. 2451-2467.
7. Sifuentes Giraldo WA, Gallego Rivera JI, Vázquez Díaz M. Vértebra en mariposa. Reumatol Clín [Internet]. 2015 [citado 12 Ene 2019];11(1):[aprox. 9 p.]. Disponible en: https://www.reumatologiaclinica.org/es-vertebra-mariposa-articulo-S1699258X14000072 DOI: 10.1016/j.reuma.2014.01.001
8. Di Pinto D, Adragna M. Anomalías renales en niños con síndrome de Alagille. Arch argent pediatr [Internet]. 2018 [citado 12 Ene 2019];116(2):[aprox. 4 p.]. Disponible en: https://www.sap.org.ar/docs/publicaciones/archivosarg/2018/v116n2a20e.pdf
9. Morales Martínez A, Mena Cedillos CA, Nieto Zermeño J, Morán Barroso V, Villalpando Carrión S, Ramírez Dovala S. Manifestaciones dermatológicas del síndrome de Alagille. Bol Med Hosp Infant Mex [Internet]. Mar-Abr 2012 [citado 12 Ene 2019];69(2):[aprox. 5 p.]. Disponible en: http://himfg.com.mx/descargas/documentos/BMHIM_2012/BMHIM_vol_69_Espanol/BMHIM_69-2-feb-mzo_2012_espanol.pdf
10. Muñoz Bartolo G, Frauca Remacha E. Colestasis del recién nacido y del lactante. En: Argüelles F, García MD, Pavón P, Román E, Silva G, Sojo A, editores. Tratado de Gastroenterología, Hepatología y Nutrición Pediátrica de la SEGHNP. Madrid: Océano Ergon; 2010. p. 427-444.
11. De la Vega A, Frauca Remacha E. Síndrome colestásico. Actitud diagnóstico terapéutica. Pediatr Integral [Internet]. 2015 [citado 12 Ene 2019];XIX(3):[aprox. 13 p.]. Disponible en: https://www.pediatriaintegral.es/wp-content/uploads/2015/xix03/02/n3-168-179_Angela%20Vega.pdf
12. D’Amato M, Ruiz P, Aguirre K, Gómez Rojas S. Colestasis en pediatría. Rev Col Gastroenterol [Internet]. 2016 [citado 12 Ene 2019];31(4):[aprox. 9 p.]. Disponible en: http://www.scielo.org.co/pdf/rcg/v31n4/v31n4a11.pdf
Published
How to Cite
Issue
Section
License
Copyright: Camagüey Medical Archive Magazine, offers immediately after being indexed in the SciELO Project; Open access to the full text of the articles under the principle of making available and free the research to promote the exchange of global knowledge and contribute to a greater extension, publication, evaluation and extensive use of the articles that can be used without purpose As long as reference is made to the primary source.
Conflicts of interest: authors must declare in a mandatory manner the presence or not of conflicts of interest in relation to the investigation presented.
(Download Statement of potential conflicts of interest)
The Revista Archivo Médico de Camagüey is under a License Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 International (CC BY 4.0).
This license allows others to distribute, to mix, to adjust and to build from its work, even for commercial purposes, as long as it is recognized the authorship of the original creation. This is the most helpful license offered. Recommended for maximum dissemination and use of licensed materials. The full license can be found at: https://creativecommons.org/licenses/
22 julio 2025