%0 Journal Article
%T Alagille syndrome in an eleven year old Nigerian child ¨C A case report
%A M.G. Uno
%A P Ahmed
%A Y.O. Wey
%J -
%D 2017
%X 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.
%K T.O
%K Female 11 years
%K had a history of recurrent episodes of yellowness of the eyes
%K first noticed soon after birth
%K associated with pale stools
%K dark urine
%K and body itching. From age three she was noticed to have progressive loss of sight
%K recurrent body swellings and irrational talks. She was diagnosed to have a cardiac murmur at age six
%K when diagnosis of ALS was made due to features of
%K recurrent jaundice and perculiar facies of broad forehead
%K flat nasal bridge
%K prognathia and genetic report of no mutation in JAG 1 gene
%K karyotype 46XX. At the time of current hospital admission she was in addition small for age
%K had hepatosplenomegy
%K ascities and talked irrationally. Chest radiograph showed multiple butterfly vertebrae
%K Echocardiograph aortic and pulmonary stenosis
%K Liver aminotransferase were marked elevated. Brain MRI showed multiple chronic infarcts. She was diagnosed with Allagille syndrome presenting in hepatic failure with encephalopathy.
%U https://www.ajol.info/index.php/njp/article/view/152771