Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome

Abstract

A 7-year-old girl had been followed up for persistent conjugated hyperbilirubinemia since birth. Alanine aminotransferase, aspartate aminotransferase and γ-glutamyl transpeptidase activity was within the normal range, and liver protein synthesis had always been normal. Infectious etiology of jaundice, autoimmune diseases, drug-induced liver injury, hemolytic anemia, α-1 anti-trypsin deficiency, Wilson disease and Gilbert syndrome were ruled out. At the age of 8 years the patient underwent radionuclide dynamic cholescintigraphy, indicating poor accumulation of the radiotracer in the liver on one hand, and severe retention of the radiopharmaceutical in the blood pool (including the heart) on the other hand. Rotor syndrome was suspected and finally confirmed on molecular analysis. This case represents the first cholescintigraphy report in a pediatric patient with genetically proven Rotor syndrome.

Is Hepatobiliary Scintigraphy Sufficient to Diagnose Rotor Syndrome in a 3-Year-Old Boy?

“…The abnormal, instead of normal, hepatic perfusion phase (increased or anticipated) due to liver arterialization is more likely in these disorders. Dubin--Johnson syndrome, a similar syndrome of conjugated hyperbilirubinemia, presents, in contrast, HBS findings of intrahepatic cholestasis (no biliary phase, associated with prolonged, rapid, and intensive, instead of slow and negligible, liver radiotracer uptake) (3,4).…”