Dubin-Johnson syndrome and neonatal cholestasis : case report and review of pathogenesis

Abstract EN

A one month old male infant presented with neonatal cholestasis and steatorrhea.

Urinary bile acids and bile alcohols were elevated.

Liver biopsy showed brown pigment in centrilobular hepatocytes indicative of Dubin-Johnson Syndrome (DJS).

Extensive investigations ruled out known causes of cholestasis.

The association of DJS and neonatal cholestasis is discussed.

Bahrain Med Bull 1996;18(1): Dubin-Johnson Syndrome (DJS) is relatively benign and rare cause of conjugated hyperbilirubinaemia.

Patients are mostly asymptomatic with mild intermittent episodes of jaundice, nausea, vague abdominal pain and fatigue.

Studies on experimental animal models of DJS1,2 and on membrane vesicles from human liver3 indicate the existence of at least two separate transport systems across the canalicular membrane; one for non bile acid organic anions and the other for the major bile acids.

Serum concentrations of bile acids in adults with DJS are normal.

This finding has led to the speculation that the defect involves only the transport system for non bile acid organic anions such as bilirubin diglucoronide.

Hence, DJS is considered as a non-cholestatic liver disease.

However, the findings in our patient and the other recently reported cases of DJS syndrome and neonatal cholestasis4-8 may seem to contradict this notion.

We report this case in an attempt to shed light on the association of the two conditions and to discuss the pathogenesis of the condition.