[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.

[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.

Cholescintigraphy in the diagnosis of Rotor syndrome.

A 2-year-old boy with Rotor syndrome was studied with Tc-99m N-(di-isopropylphenyl carbamoylmethyl) iminodiacetic acid (DIPA). In this patient, the liver was not visualized, and there was persistent visualization of the cardiac blood pool and along with prominent kidney excretion. It is concluded that Tc-99m DIPA cholescintigraphy may be helpful in the diagnosis of Rotor syndrome.

[Hepatobiliary gammagraphy in the diagnosis of Dubin-Johnson syndrome in children]. / Hepatobiliárna gamagrafia v diagnostike Dubinovho-Johnsonovho syndrómu u detí.

Using hepatobiliary gammagraphy (99mTc-EHIDA), the authors made 26 examinations in six families with Dubin-Johnson's syndrome. From a series of gammagrams they evaluated the hepatobiliary kinetics and from measurements of the activity of series of blood samples they assessed the half-time of decline of the rapid (Tk1) and slow (Tk2) phase of the curve and the percentage of retention in blood during the 45th minute (R45). The values in a group of normal subjects were 3.4 +/- 0.6 min., 49.1 +/- 8.5 min. and 9.9 +/- 1.7%. In 12 patients with a fully developed clinical picture the liver was visualized intensively and homogeneously within 10 min., in 10 it was enlarged. The intrahepatic biliary pathways were not visualized the passage of activity into the intestinal lumen was delayed above 60 to 120 min., and the increased retention in the liver persisted for more than 120 min. The gallbladder was visualized in six but late and with low intensity. Tk1 was 4.3 to 10.0 min., R45 16.7 to 30.0%. In 9 subjects with the clinically inapparent form the visualization of the intrahepatic pathways was only indicated, the gallbladder was not visualized only in one patient. A protracted retention in the liver was in seven subjects above 60 min., in 2 above 90 min. and in 1 above 120 min. Tk1 was 4.0 to 9.0 min. and R45 12.0 to 27.1%. Hepatobiliary gammagraphy with evaluation of blood clearance of the pharmaceutical preparation is a non-invasive method which helps in the diagnosis of Dubin-Johnson's syndrome.

[The rotor syndrome]. / Das Rotor-Syndrom.

Case reports of 4 patients with Rotor syndrome are given, including clinical chemistry values for liver function, BSP-test, histology, as well as sequential scintigraphy results with 131I-BSP. All results were normal, except serum bilirubin, which was increased, conjugated bilirubin making up for the largest part of the increase. The BSP-curve showed elevated 45-minute-values and liver scintigraphy disturbed hepatic uptake and storage of BSP. Therapy with phenobarbital led to a decrease of serum levels of bilirubin and BSP-retention.

Hepatic computerized tomography in the Dubin-Johnson syndrome: increased liver density as a diagnostic aid.

Computed tomography of the liver was performed in 17 patients with Dubin-Johnson syndrome as well as 50 control patients free of liver disease. Multiple readings of liver attenuation values were made in the patients in these two groups and their values compared. The Dubin-Johnson group had liver attenuation values significantly higher than the control group but considerable overlap between the 2 groups existed. It is concluded that computed tomography may be useful as confirmatory evidence of Dubin-Johnson syndrome.

A case of infantile Dubin-Johnson syndrome with high CT attenuation in the liver.

We report a case of Dubin-Johnson syndrome (DJS) with severe infantile cholestasis and elevated computed tomography (CT) attenuation of the liver. Increased levels of urinary coproporphyrin I were found as well as pigment granules in the hepatocytes and hepatosteatosis. The CT attenuation was markedly higher in the liver of this patient at the ages of 3 and 7 months than in the spleen or kidneys. This high attenuation may be a finding specific to infantile DJS and, therefore, abdominal CT may be helpful in the diagnosis.

99mTc-HIDA cholescintigraphy in children with Dubin-Johnson syndrome.

Tc-HIDA cholescintigraphy in Dubin-Johnson syndrome (DJS) demonstrates intense prolonged homogeneous visualization of the liver, together with delayed visualization of the gall bladder and extrahepatic ducts. Such a cholescintigram has not been described for any other hyperbilirubinemic state. Because it is a noninvasive and easy technique, it is recommended for the evaluation of children suspected of having DJS.

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.

Congenital extrahepatic portocaval shunt associated with hepatic hyperplastic nodules in a patient with Dubin-Johnson syndrome.

We report a rare case of congenital extrahepatic portocaval shunt diagnosed during evaluation of hyperplastic nodules in the liver. Diagnostic imagings showed hypoplasia of the intrahepatic portal venous system and splanchnic portal venous return to the inferior vena cava through aberrant vessels. Altered hepatic blood flow dynamics due to this shunt may have been implicated in the etiology of the hepatic hyperplastic nodules.