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

Rotor syndrome (RS) is a benign, inherited, commonly misdiagnosed cause of conjugated hyperbilirubinemia whose identification prevents unnecessary invasive investigations. We present the case of a 3-y-old boy with phenotypic and laboratory findings of RS but negative genetic test results, whose diagnosis was confirmed by hepatobiliary scintigraphy.

[A case with Rotor syndrome in hyperbilirubinemic family].

Rotor syndrome is a rare, benign familial disorder characterized by chronic fluctuating, nonhemolytic and predominantly conjugated hyperbilirubinemia with normal hepatic histology. In contrast to Dubin-Johnson syndrome, there is no liver pigmentation in Rotor syndrome. A 36-year-old man was admitted due to asymptomatic persistent jaundice. His siblings had jaundice with direct hyperbilirubinemia. Physical examination revealed icteric sclerae without hepatosplenomegaly. Laboratory findings showed increased serum bilirubin with direct bilirubinemia. Hepatic uptake and storage capacity of indocyanine green was markedly reduced, while excretion into bile was slightly suppressed. Markedly decreased hepatic uptake and poor visualization of the gallbladder and biliary tract were shown in 99mTc-DISIDA scan. Histology of the liver showed mild steatosis without pigmentation. We report a case with the review of literature.

Tc-99m di-isopropyl-iminodiacetic acid cholescintigraphic findings in Rotor's syndrome.

A 10-year-old girl with Rotor's syndrome was studied using Tc-99m di-isopropyl-iminodiacetic acid cholescintigraphy. The findings showed slow hepatic uptake, persistent cardiac blood pool radioactivity, and prominent renal excretion. The contribution of cholescintigraphy and pathophysiology will be discussed via a literature review.

Cholescintigraphy in the diagnosis of Rotor syndrome.

In three patients with chronic conjugated hyperbilirubinemia who carried the diagnosis of Rotor syndrome, 99mTc-HIDA cholescintigraphy was performed. In these patients, the liver was either not visualized or it was seen very faintly with slow liver uptake, persistent visualization of the cardiac blood pool and prominent kidney excretion. The present observation emphasizes the contribution of cholescintigraphy in the diagnosis of Rotor syndrome.

Scintigraphic aspect of Rotor's disease with technetium-99m-mebrofenin.

A 28-yr-old male with Rotor's disease was studied with 99mTc-mebrofenin. The scintigraphic pattern was that of a slow liver uptake with unimpaired excretion and persistent visualization of the cardiac blood pool, kidneys and urinary tract up to 6 hr. The gallbladder was visualized at 55 min postinjection.

Hepatic uptake of technetium-99m diisopropyl iminodiacetic acid (DISIDA) is not impaired by very high serum bilirubin levels.

The hepatic clearance of Tc-99m labeled iminodiacetic acid (IDA) compounds is believed to be impaired in patients with severe hyperbilirubinemia. Competitive inhibition of hepatocyte uptake of IDA by bilirubin has been demonstrated in vitro, but not by clinical scintigraphy. We present a patient with Crigler-Najjar syndrome without evidence of hepatobiliary damage, who demonstrated normal uptake and excretion of Tc-99m DISIDA despite a serum indirect bilirubin level in excess of 30 mg/dl. It is therefore suggested that a markedly elevated serum bilirubin level per se does not inhibit hepatic uptake of Tc-IDA and does not preclude clinically useful scintigraphic examination.

[Cholescintigraphy and hepatic clearance of 99mTc-p-butyl HIDA in Gilbert's syndrome]. / La colescintigrafia e la clearance epatica del 99mTc-p-butil IDA nella sindrome di Gilbert.

99mTc-p-butyl IDA clearance was measured in three subjects with Gilbert's syndrome at the same time as traditional cholescintigraphy. Cholescintigraphy persistently revealed a delayed liver display together with a normal fast display of the biliary ways. The Tu (semi-uptake time) of 99mTc-p-butyl IDA was higher in all three cases than in normal subjects, whereas Te (semisecretion time) was normal in all cases. The typical liver function profile provided by the association of cholescintigraphy and 99mTc-p-butyl IDA hepatocyte clearance renders the examination, which is both simple and free of side-effects, extremely useful in the clinical identification of subjects with suspected Gilbert's syndrome.

99mTc-HIDA cholescintigraphy in Dubin-Johnson and Rotor syndromes.

99mTc-HIDA cholescintigraphy was performed in 6 patients with Dubin-Johnson syndrome and 1 patient with Rotor syndrome. In the patients with Dubin-Johnson syndrome, the cholescintigrams had a characteristic pattern of delayed visualization or nonvisualization of the gallbladder and bile ducts in the presence of intense, homogeneous, and prolonged visualization of the liver. In the patient with Rotor syndrome, the hepatobiliary system was not visualized at all. It is concluded that 99mTc-HIDA cholescintigraphy may be helpful in the diagnosis of Dubin-Johnson syndrome and Rotor syndrome and in the differential diagnosis between these two conditions.

The hepatic excretion of 131I-rose bengal and 99mTc-IDA derivatives in Rotor's syndrome.

Bilirubin kinetics and hepatobiliary excretion of some exogenous anions (BSP, 131I-rose bengal, diethyl and parabutly-IDA labeled with 99mTc) were studied in three patients presenting with Rotor's syndrome. Two were brothers; a nonjaundiced fraternal twin of one of them was also evaluated. The hepatic clearance of the radiopharmaceuticals was impaired in the affected patients but the degree of impairment was different among the tested anions, i.e., maximal for 99mTc-diethyl-IDA and minimal for 131I-rose bengal. Parabutyl-IDA was cleared better than the diethyl derivative. The metabolic derangement seems to be at the level of transfer from plasma to liver and of the hepatic storage, rather than at the level of hepatocyte excretory pathways, as in the case of Dubin-Johnson syndrome.

[Contribution of sequential scintigraphy with 131I-BSP to the differential diagnosis of jaundice (author's transl)]. / Der Beitrag der sequentiellen Szintigraphie mit 131J-BSP zur Ikterus-Differentialdiagnose.

Patients with constitutional hyperbilirubinemia and with extra intrahepatic cholestasis have been explored by means of sequential scintigraphy, with the following results: 1. in Gilbert's syndrome liver uptake and output of 131I-BSP were normal; 2. in the Dubin-Johnson syndrome liver uptake and plasma clearance of 131I-BSP were normal; the substance was retained for a long period (2 hrs) in the liver without any tendency to be excreted; 3. in the Rotor syndrome 131I-BSP uptake was delayed and liver clearance prolonged; 4. in total biliary obstruction no intestinal activity could be recorded even in the late registrations (the latest after 24 hrs); 5. in partial extrahepatic biliary obstruction there was a normal liver uptake with an abnormal retention in the choledochus and a delayed excretion (more than 2 hrs); and 6. in intrahepatic cholestasis 131I-BSP liver uptake, retention and excretion were delayed; differentiation of these cases from total biliary obstruction is difficult. Late determinations, the last 24 hrs after injection of the tracer, were performed in these cases, in order to exclude a total obstruction with parenchymal injuries, by assessing the enteral output.