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Revista Archivo Médico de Camagüey
On-line version ISSN 1025-0255
Abstract
CARMENATES-ALVAREZ, Bárbara Maitee; REYES-ESCOBAR, Ana Dianelis; PENA-BORROTO, Yamilka Joamis and ROJAS-PELAEZ, Yosvany. Alagille syndrome: cause of the child's cholestasis to have in account. AMC [online]. 2021, vol.25, n.5 Epub Oct 01, 2021. ISSN 1025-0255.
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.
Keywords : ALAGILLE SYNDROME; CHOLESTASIS; INFANT; CASE REPORTS; LIVER DISEASES.