Abstract
Objective: To analyze the most current and reliable data to elucidate the clinical picture, diagnosis, and treatment of Alagille syndrome. Bibliographic review: Alagille Syndrome is a multisystemic, autosomal, dominant disease, with varied expression, manifested due to defects in the NOTCH receptor in it signaling pathway, with 97% of cases caused by haploinsufficiency of the JAGGED1 gene. The main feature of this syndrome is bile duct hypoplasia, making it known as arteriohepatic dysplasia. It can also be related to cardiac, ophthalmological, and liver malformations. Currently, it is possible to make a clinical diagnosis using primary and secondary criteria. The treatment is still uncertain, and the measures taken are related to the progression of the symptoms, making the prognosis related to each affected organ and presenting a mortality ranging from 10 to 20%. Final considerations: In this review, we provide a broader picture related to Alagille syndrome as it presents a challenge for the medical profession because, as seen in the articles, it is a multisystem disease, and as there is a variety in the genotype and phenomenon related to the disease, the diagnosis and the differentiation of the same becomes determined to be elucidated.