Iranian Journal of Child Neurology

Abstract

Objective

Wilson disease (WD) is an inherited copper metabolism dysfunction disease characterized by cirrhosis and CNS findings. Wilson disease is important because it is fatal if not recognized and treated. Our Goal of study is to investigate the clinical signs and symptoms, lab results and other relevant matters in our patients in order to obtain a better understanding of this potentially lethal disease in our country.

Materials & Methods

We have evaluated 21 cases of children with Wilson disease who were referred to Loghman and Imam Hussein Hospital between years 1998-2005. The mean age of our patients was 9 years.

Results

The presenting symptom was ascites and extremity edema in 6(28.5%) patients, behavioral changes or neurological signs in 5 (24%) simultaneous Ascites and icter in 9(43%) patients and in one patient the presenting manifestation was hemolytic anemia(4.8%). One of our patients died because of fulminant hepatitis in the course of admission(4.8%).

Conclusion

we showed in this study that Wilson disease can be presented by a manifold symptoms in children and adolescence .Having a good concept of these symptoms and high clinical suspicious are required to diagnose this potentially lethal disease at the proper time in order to decrease the potential adverse effects of the disease especially the neuropsychiatric damages significantly.