Hemorragia digestiva como primeira manifestação na síndrome de Alagille - Relato de caso

Abstract

INTRODUCTION: The aim of this report is to describe a case of gastrointestinal bleeding that started at 1 month of age in a patient with Alagille Syndrome. CASE REPORT: Patient started recurrent gastrointestinal bleeding, leading to hypovolemic shock in the second month of life. During the investigation, cholestasis and incoagulable INR were evidenced. The facial stigmata, associated with the posterior embryotoxon in the ophthalmologic examination and transthoracic echocardiogram with stenosis of the pulmonary branches and patent foramen ovale, suggested the hypothesis of Alagille Syndrome, later confirmed by compatible liver biopsy and genetic testing with a mutation in the JAGGED1 gene. After administration of vitamin K, the patient evolved with normalization of the coagulogram, without new episodes of gastrointestinal bleeding. At follow-up, replacement of fat-soluble vitamins and treatment with ursodeoxycholic acid were initiated. DISCUSSION: Reports in the literature describe bleeding episodes in patients with Alagille Syndrome, however, the main site of bleeding is the central nervous system. There is no description of bleeding in the gastrointestinal tract as the initial and neonatal manifestation of the syndrome. The case reported is an uncommon form of presentation and shows the importance of diagnostic suspicion in cases of neonatal cholestasis with gastrointestinal bleeding, allowing for adequate treatment and improved prognosis.

Keywords

• alagille syndrome
• hemorrhage
• cholestasis intrahepatic