Dubin Johnson Syndrome Masquerading as Biliary Atresia in a Neonate

Biliary atresia (BA), a surgical cause of neonatal cholestasis, needs timely intervention. A term male neonate presented with yellowish discoloration and pale stool on the third week of life, suspected as BA based on the liver function test and hepatobiliary iminodiacetic acid (HIDA) scan. His intra...

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Published in:Journal of neonatology 2024-09, Vol.38 (3), p.472-473
Main Authors: Dhanawat, Avantika, Bachina, Prashant, Panda, Santosh Kumar
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Bachina, Prashant
Panda, Santosh Kumar
description Biliary atresia (BA), a surgical cause of neonatal cholestasis, needs timely intervention. A term male neonate presented with yellowish discoloration and pale stool on the third week of life, suspected as BA based on the liver function test and hepatobiliary iminodiacetic acid (HIDA) scan. His intraoperative cholangiogram was normal and finally diagnosed as a case of Dubin-Johnson syndrome (DJS) by whole exome sequencing. The baby became anicteric with the cholestasis regimen. DJS is one of the differential diagnoses of BA; genetic evaluation may be considered prior to an invasive cholangiogram in such cases.
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title Dubin Johnson Syndrome Masquerading as Biliary Atresia in a Neonate
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