Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome.
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.
Faculty Hospital and Faculty of Medicine, Ostrava.
Pavel
P
Sirucek
Faculty Hospital and Faculty of Medicine, Ostrava.
Astrida
A
Sulakova
Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Milan
M
Jirsa
Faculty Hospital and Faculty of Medicine, Ostrava.
Lubomir
L
Mrhac
Faculty Hospital and Faculty of Medicine, Ostrava.
Martin
M
Havel
Faculty Hospital and Faculty of Medicine, Ostrava.
Otakar
O
Kraft
D002648:Child; D002765:Cholecystography / Q000379:methods*; D003937:Diagnosis, Differential; D005260:Female; D005704:Gallbladder / Q000000981:diagnostic imaging*; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000150:complications / Q000175:diagnosis*; D007565:Jaundice / Q000175:diagnosis / Q000209:etiology*; D011877:Radionuclide Imaging / Q000379:methods*
Rotor syndrome; conjugated hyperbilirubinemia; radionuclide cholescintigraphy