Abstract:

Aim:Thisstudyaimedtopresentclinical and laboratory features of 41 children with Wilson's disease. Material and Methods: The medical records of all of the patients who had got a diagnosis of Wilson's disease between 2001 June and 2005 March in Ankara Dr. Sami Ulus Training& Research Hospital, Turkey. Demographic, clinical and biochemical information was obtained from the patients' records. Findings were retrospectively analyzed by the SPSS Windows 16.0 (SPSS Inc. IL, USA) statistical software. Results:A total of 41 patients had got the diagnosis of Wilson's disease: 24 boys and 17 girls, between in the range of 3-14 years old. The mean age of patients was 9.05±2.84 years. Kayser-Fleischerrings were observed in 24 patients.Urinary copper excretion in 24-hours urine was high in 39 of 40 patients. Serum ceruloplasmin levels were found low in 35 of 40 patients. Thirteen of patients were diagnosed after the family screening. Pathologic brain MR findings were detected in 4 of 8 patients without neurological system complaints or physical examination findings. Conclusion: Especially in societies that consanguineous marriages are so common, Wilson's disease should be considered in differential diagnosis of chronic liver diseases, prolonged hypertransaminasemia, and degenerative brain disorders of unknown origin. In our study, it has been shown that Wilson's disease diagnosis and follow-up preserved the value of classical diagnostic methods and it has been shown that neuroimaging may be useful for early detection of neurological involvement even if neurological findings do not occur.

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