Alagille syndrome in an eleven year old Nigerian child – A case report
Keywords: 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.
Abstract:
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.
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