All issues > Volume 35(11); 1992

Case Report

J Korean Pediatr Soc. 1992;35(11):1573-1577. Published online November 15, 1992.

A Case of Wilson Disease Associated with Hemolytic Anemia and Cholelithiasis

Kyeong Cheol KC Yoon¹, Yong Hwa YH Shin¹, Ho Seek HS Ahn¹, Sung Won SW Kim¹

¹Department of Pediatrics, Saint Benedict Hospital, Busan, Korea

Abstract

Wilson disease is an autosomal recessive abnormality in the hepatic excretion of copper that results in toxic accumulation of the metal in liver, brain, and other organs. Hemolytic anemia frequently complicates the courses of Wilson disease and may be the initial clinical feature of Wilson disease. Since hemolysis may be preceding the onset of hepatic manifestation and Kayser-Fleischer ring is absent in this situation, the diagnosis should be excluded biochemically in all children who have Coombs' test negative hemolytic anemia. Hemolysis has been cited as the primary pathogenic mechanism of cholelithiasis, hence cholelithiasis must always be considered in patients with Wilson disease who have had episodes of hemolysis. In this case, a 12-year-old girl presented with a history of intermittent abdominal pain for 3 months. She was admitted to our hospital due to sudden attack of jaundice, dark urine, and weakness and had evidence of hemolysis. She was found to have ascites and abnormal liver function tests during admission and a diagnosis of Wilson disease was made by the characteristic laboratory data. Penicillamine therapy was started. One month later the patient experienced severe right upper quadrant pain, and a diagnosis of cholelithiasis was made by abdominal ultrasonogram. We report a case of Wilson disease associated with hemolytic anemia and cholelithiasis with brief review of related literatures.

Keywords :Wilson disease, Hemolytic anemia, Cholelithiasis