A case report on Alagille syndrome and its clinical features

Abstract

Alagille syndrome is a rare, chromosome dominant inherited complex disorder affecting varying organs like the liver, heart, kidneys, skeleton, and brain. lt invariably happens because of Notch signaling pathway defects, primarily as a result of JAG1 mutation (ALGS type 1), but it conjointly occurs seldom because of neurogenic locus notch homolog protein (NOTCH2) mutation (ALGS type 2). The symptoms and severity of Alagille syndrome can vary widely, often in the same family, from person to person. Some people may have mild forms, while others may have more severe forms. Blocking of bile flow from the liver (cholestasis), yellowish discoloration of the skin and mucosal membranes (jaundice), low body weight, and extreme itching (pruritis) are the common symptoms, which often occur within the first three months of life. In this current study, we tend to report a case of 14 years old female child who was hospitalized with characteristic facial features like a broad forehead, yellowish discoloration of sclera and skin, posterior embryotoxon, intense itching, dry, coarse skin, mild splenomegaly, mild hepatomegaly. She conjointly had a history of progressive neonatal jaundice with prominent skin lesions and edema. Therefore our study emphasizes and focuses mainly on understanding and identification of distinct features associated with this syndrome to aid better management in all cases.