All issues > Volume 27(11); 1984

Original Article

J Korean Pediatr Soc. 1984;27(11):1097-1102. Published online November 30, 1984.

A Clinical Study of Wilson`s Disease.

Jeong Soo Park¹, Chang Jun Ko²

¹Department of Pediatrics，Yonsei University, Severance Hospital

Abstract

Wilson’s disease is a rare, autosomal recessive inherited disorder characterized by excessive copper storage, particularly in the brain, liver, kidneys, and cornea, with resultant organ dysfunction. Five cases of Wilson’s disease were studied during the period from May 1977 to Dec. 1983 at the department of pediatrics, Yonsei University Severance hospital. The results were analyzed in relation to age and sex, family history, clinical manifestations, laboratory findings, and treatment. The results were as follows: 1) It was commoner in male, with a ratio of 4 : 1 and the mean age of onset was 12.4(range 11 〜 14). 2) Of five cases, two had compatible family histories. 3) Three cases experienced neurologic manifestations presenting with speech disturbance, spasticity and involuntary movement. None of them showed symptom of hepatic dysfunction, but liver biopsy showed cirrhotic change in two cases. All presented with Kayser-Fleischerring. In one case, renal and joint manifestations were associated with splenomegaly. 4) According to classification by natural history of disease, four belong to stage M, one, to stage I. 5) All cases showed low level of serum ceruloplasmin and three cases showed significant high level of urinary copper, excretion. 6) All cases were treated with penicillamine, of which four cases could not be followed up and one case was treated with penicillamine and L-dopa, who showed significant improvement.

Keywords :Wilson’s disease.