Case history

Case history

A 14-year-old teenager is seen in the outpatient clinic with persistent jaundice. His mother reports that jaundice has been noted since early infancy and has never completely resolved. Some blood tests were done at that time, and they were told that apart from jaundice levels being high, the rest of the test results were all within normal limits. He was followed up for 1 year and then discharged as he remained well with no symptoms. His eyes have always looked slightly yellow, and he has always had dark-coloured urine. The boy's mother reports that he had a chest infection recently and that since then his jaundice has looked a lot worse. He is otherwise completely asymptomatic. Physical examination is unremarkable apart from obvious icterus.

Other presentations

Patients with RS are generally asymptomatic, and their jaundice and conjugated hyperbilirubinaemia are often discovered incidentally. In RS patients, bilirubin levels fluctuate and may be increased by intercurrent illness. Some patients describe mild symptoms including fatigue and vague abdominal pain.

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