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Background: Alagille syndrome (AGS) is a rare cause of prolonged jaundice. It has an autosomal dominant inheritance pattern expressed variably, with a reported incidence of 1:100,000 live births in the United States. The objective is to highlight the clinical features and diagnostic challenges to this rare cause of cholestatic jaundice.
Case Report: T.O, Female 11 years, had a history of recurrent episodes of yellowness of the eyes, first noticed soon after birth, associated with pale stools, dark urine, and body itching. From age three she was noticed to have progressive loss of sight, recurrent body swellings and irrational talks. She was diagnosed to have a cardiac murmur at age six, when diagnosis of ALS was made due to features of, recurrent jaundice and perculiar facies of broad forehead, flat nasal bridge, prognathia and genetic report of no mutation in JAG 1 gene, karyotype 46XX. At the time of current hospital admission she was in addition small for age, had hepatosplenomegy, ascities and talked irrationally. Chest radiograph showed multiple butterfly vertebrae; Echocardiograph aortic and pulmonary stenosis; Liver aminotransferase were marked elevated. Brain MRI showed multiple chronic infarcts. She was diagnosed with Allagille syndrome presenting in hepatic failure with encephalopathy.
Conclusion: Allagille syndrome should be considered early in older children with persistent cholestatic jaundice.
Keywords: Allagille, syndrome, cholestatic, jaundice, hepatic encephalopathy and congenital heart disease