SUMMARY
Wilson’s disease is an inherited autosomal recessive, degenerative disorder characterized by copper accumulation in the organs and tissues such as liver, brain, kidney, cornea, and placenta due to deficiency of copper excretion from the body by bile. Clinical findings varies according to involved organs. The diagnosis is based on increased urinary copper concentrations, reduced levels of serum ceruloplasmin, and determination of Kaiser-Fleischer rings. A 12-year old female who was diagnosed as Wilson disease with findings including dysarthria, drooling, Kaiser-Fleischer rings, lesion areas in the cerebral white matter, bilateral putamen, nucleus caudatus, and pons on brain magnetic resonance imaging and increased urinary copper concentration is presented and discussed. Particularly, evaluation of the cases presented with dysarthria for Wilson disease may prevent delaying in diagnosis and unnecessary laboratory studies. (Journal of Current Pediatrics 2009; 7: 41-4)
Key words:
Wilson’s disease, dysarthria, child Article in Turkish(Use the link for full-text in Turkish)