283 The Coincidence of Rotor and Gilbert syndrome – a case report

• Published in: Archives of disease in childhood Vol. 106; no. Suppl 2; p. A120
• Main Authors: Vuković, Antonija, Žitko, Vanda
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 11-10-2021; BMJ Publishing Group LTD
• Subjects: Abstracts; Antibiotics; Antinuclear antibodies; Autoantibodies; Autoimmune diseases; Bilirubin; Case reports; Ceruloplasmin; Connective tissue diseases; Connective tissues; Diagnosis; Gilbert's syndrome; Hepatitis; Hereditary diseases; Hyperbilirubinemia; Jaundice; Liver; Liver diseases; Parasites; Pediatrics; Porphyrins; Urine
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2021-europaediatrics.283

Rotor syndrome is an autosomal recessive hereditary conjugated hyperbilirubinemia characterized by the appearance of mild, intermittent jaundice in otherwise asymptomatic patients. The prevalence of the disease is unknown but is assumed to be very low (<1: 1000000). The diagnosis is made on the basis of elevated levels of conjugated bilirubin and elevated levels of coproporphyrin in the urine, at the expense of coproporphyrin I, with the exclusion of other liver diseases. We will present the case of a seventeen-year-old boy who was hospitalized in our Clinic in 2019. due to cholestatic jaundice that manifested after a short-term febrile illness treated with antibiotics. In 2015., we proved that the young man was heterozygous for Gilbert syndrome (familial benign unconjugated hyperbilirubinemia), but in the initial laboratory findings during this hospitalization we isolated total bilirubin 124 umol/L of which 104 umol/L was conjugated (83.8%), which is not a characteristic of Gilbert syndrome. Clinically, he was in good general condition, had normocolored stool with dark orange urine (bilirubin in urine +++). There were no signs of hemolysis, alpha-1-antitrypsin as well as ceruloplasmin arrived at normal values, markers of hepatitis were negative, and synthetic and metabolic function of the liver was preserved. Antinuclear antibodies arrived borderline positive (1:80) but all of the other autoantibodies of connective tissue diseases were negative. Microbiological stool analysis (culture, parasite antigen detection) was negative. Abdominal ultrasound and MRCP did not show chnages in the morphology of the liver, cholecyst, biliary tree, and pancreatic duct. After all of the diagnostic procedures that excluded other liver diseases (infections, autoimmune diseases, pathomorphological changes in the liver and biliary tree), we assumed that it was another inherited disease of bilirubin metabolism, this time characterized by direct hyperbilirubinemia – Rotor or Dubin Johnson syndrome. To distinguish between the two syndromes, porphyrins were made in 24-hour urine. They were elevated at the expense of coproporphyrin I (527.0 nmol/ dU; ref. Limit 7 nmol/ dU) which supports the diagnosis of Rotor syndrome in a patient diagnosed with Gilbert’s syndrome. Researching the available literature, we did not find the coincidences of Gilbert and Rotor syndrome described so far, but this case warned us that regardless of the rare incidence of Rotor syndrome, it should always be considered in any patient who has chronic but mild hyperbilirubinemia at the expense of conjugated bilirubin.