Abstract
Alagille syndrome [ALGS] is an autosomal dominant, complex multisystem disorder that includes a wide range of clinical aspects, most commonly manifest in infancy or early childhood. It is mostly caused by mutations of genes involved in the Notch signaling pathway. The major of clinic manifestations occur in liver, but also other organs, like heart, eye and skeleton can be impaired. Herein we report the story of a family in which four members were diagnosed with ALGS, leading the same gene mutation. The peculiarity of our case lies in the fact that they manifested the disease in different time of their life and with many different symptoms, highlighting the impressive clinical variability of the ALGS and the importance of considering it in the differential diagnosis of liver impairment disease.
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