An 8-year-old boy with recurrent jaundice
Year: 2026
Type: article
Study design: Case Report
Abstract: An 8-year-old boy presented with recurrent jaundice since early infancy. He had normal growth and development and no clinical features of chronic liver disease. Investigations repeatedly demonstrated predominantly conjugated hyperbilirubinaemia, with normal liver enzymes and preserved synthetic function. Haemolytic evaluation was negative, and abdominal ultrasonography showed mild hepatomegaly with normal echotexture, without biliary dilatation, gallstones, chronic liver disease, or portal hypertension. Whole-exome sequencing confirmed the diagnosis of Dubin-Johnson syndrome, a benign disorder due to defective bilirubin transport. The child remains clinically well, with stable biochemical parameters, and requires no specific treatment. This case highlights the importance of recognizing benign hereditary bilirubin transport disorders in children with isolated conjugated hyperbilirubinaemia and normal liver function, thereby avoiding unnecessary investigations and providing appropriate reassurance and counselling to families.
Source: Paediatrics & Child Health
DOI: 10.1093/pch/pxag095
Authors: Vybhav Venkatesh, Manoj Kumar Golla
Institution: Rainbow Children's Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7212115965