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.

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