Abstract

We reported a case of Wilson's disease, which was histologically confirmed by liver biopsy in a 15 year-old boy and made a comprehensive analysis on the sum of 22 cases reported in Korean literature. Although Wilson's disease is still rare, it should be included in the differential diagnosis of chronic liver diseases particularly in children of 5 to 15 years old. For the clinical diagnosis of Wilson's disease, changes in serum ceruloplasmin, plasma copper and urine copper values are most important as well as Kayser-Fleischer ring and family hestory. The serum level of GOT, when elevated, were always higher than GPT. This atypical transaminase profile may be a clue for diagnosis of hepatic diseases by a metabolic derangement. Among various histologic changes of the liver in Wilson's disease, what have diagnostic importance are anisonucleosis, nuclear glycogenosis and Mallory body, all of which may appear in any stages of the disease. In 3 cases only neurologic symptoms such as dysarthria and athetosis were found. Hemolytic anemia was another rare complication.

• Keywords: Wilson's disease;Hepatolenticular degeneration;Copper;Cirrhosis;Ceruloplasmin