Abstract


 Objective: Wilson’s disease is an autosomal recessive disorder characterized by copper metabolism disorder. Prognosis depends on the severity of liver involvement and neurological findings. Neurological involvement can sometimes be the first symptom in patients, early diagnosis and treatment can control brain damage and symptoms. In this study, we wanted to emphasize the importance of neurological involvement of the disease. 

Material and Methods: This study included Wilson patients with neurological findings who applied to Pediatric Neurology Department between April 2008 and May 2018. The age, gender distribution, complaints of the patients, neurological symptoms, hepatological findings, treatments and treatment responses were analyzed retrospectively. A detailed neurological examination was performed on all 42 Wilson patients who were eligible. Fifteen patients with neurological findings were evaluated. 






Results: The mean age of the patients was 12.5±3.6 years (8-20 years), 53.3% male, 46.7% female. Hepatologic symptoms were present in 66.7% of the patients, neurological symptoms in 35.7% and Kayser-Fleischer ring in 26.7% of the patients. The most common symptoms in patients with neurological findings were ataxia and tremor (40%). Other symptoms were dystonia (13.4%), korea (6.6%), seizures (13.4%), behavioral disorders (13.4%), dysarthria and sialorrhea (13.4%). Radiologic findings were present in 10 (66.7%) of the patients with neurological findings. Ten patients received penicilamine treatment and five patients received trientine treatment. At the end of the first year of treatment, neurological symptoms improved in 80% of those receiving trientine treatment and in 50% of those receiving penicillamine treatment. 






Conclusion: Neurological involvement is common in Wilson’s disease. Since the findings may be overlooked at the beginning of the disease, neurological examination should be performed in all patients receiving the diagnosis. Wilson’s disease should also be kept in mind in etiology in patients with movement disorder.

Keywords: Dystonia, Tremor, Wilson’s Disease

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How to cite

1.
Gül Mert G. Neurological Findings of Wilson Disease in Patients. Turk J Pediatr Dis [Internet]. 2019 Mar. 26 [cited 2025 May 25];13(2):95-100. Available from: https://turkjpediatrdis.org/article/view/627