Alagille Syndrome in an Infant: A Rare Case Report

Abstract

Alagille syndrome is a rare autosomal dominant disorder that affects multiple organs and systems including liver, heart, bones, vascular system, and kidneys and also causes facial abnormalities. Majority of the cases involve mutation in one copy of the JAG1 gene while rarely some patients may have mutations in NOTCH2 gene. There is substantial variation in the extent of symptomatology with which patients may present. However, mostly patients present in infancy with symptoms concerning liver like jaundice, pruritus due to cholestasis, vitamin A, D, E and K deficiencies. Additional symptoms include specific triangular facies, back pain due vertebras involvement and kidney failure. Diagnosis is generally made up on the basis of clinical manifestations, genetic studies and liver biopsy. Additional laboratory tests concerning the affecting organs like liver function tests etc. may further aid up in the diagnosis. There is no specific treatment and may require symptomatic treatment with multiple disciplinary approach. A 7 months old boy is presented as a case of Alagille syndrome with its typical features.