Volumen 16 número 1 - Abril 2019
ISSN 0718-0918
Tabla de Contenidos > Caso Clínico

Keyla Milena Meneses Silvera 1, Adriana Patricia Pinilla Orejarena 2, Andrea Carolina Zárate Vergara 3, Irina Suley Tirado Pérez 5
1 Médica, Residente Cuidado Intensivo pediátrico, Hospital Internacional de Colombia, Piedecuesta - Santander
2 Médica, Cirujana pediátrica, Hospital Internacional de Colombia, Piedecuesta - Santander
3 Médica Epidemióloga, Residente Cuidado Intensivo pediátrico, Universidad de Santander, Colombia.
4 Médica Epidemióloga, Residente Cuidado Intensivo pediátrico, Máster Cuidado Paliativo Pediátrico, Universidad de Santander, Colombia.

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Introduction: Alagille syndrome is a disease with multiple impairments, is autosomal dominant with variable expressivity.  It is identified by manifestations of vertebral, liver, heart, eye and facial dysmorphia. 
Objective: Report a case of Alagille S. with hepatic involvement, debuting with hemorrhage of upper digestive tract.
Materials and methods: Clinical case report confronting articles reviewing subjects in electronic search in RIMA databases, MEDLINE, PUBMED, MEDSCAPE, from 1993-2018. Result: 2 year old patient, with late diagnosis of liver disease, with progression to cirrhosis and physical exam findings that confirm Alagille Syndrome.  Confirmed the diagnostic molecular coinciding with the main genetic finding which are anomalies associated with the gene Jagged 1 (JAG1) located on chromosome 20 and the NOTCH2 of chromosome 1.
Conclusions: It is important to highlight this uncommon disease which poses a diagnostic challenge, multiple organic involvement must be taken into account by which an interdisciplinary management is essential.

Keywords: Alagille Syndrome, Cholestasis, Liver Cirrhosis
Revista Pediatría Electrónica
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ISSN 0718-0918