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    Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients: A Cohort Study
    (Turkiye Klinikleri, 2021) Doğan G.M.; Güngör Ş.; Okut G.; Cengiz A.; Doğan S.M.; Varol F.İ.; Siğirci A.
    Objective: Wilson disease is a very rare disease of copper metabolism. The objective of this study is to describe the magnetic resonance imaging (MRI) findings and to correlate the laboratory values and brain MRI findings in Wilson disease. Material and Methods: A total of 55 patients with Wilson disease and 55 normal controls underwent conventional MRI and susceptibility weighted imaging (SWI). MRI findings and laboratory findings of the patients were analyzed retrospectively. The patients were examined in 3 groups according to T1-T2 signal intensity features and in 2 groups according to the dark paramagnetic signal in SWI. Results: A total of 25 (45.4%) patients had abnormal signal intensities either on T1 or T2 sequences. The globus pallidus and the putamen were the most commonly involved localizations on T1 and T2 sequences, respectively. Eighteen patients (32.7%) had dark paramagnetic signals in the basal ganglia in SWI. Ceruloplasmin levels were low in the 90% of the patients (n=50) and 24-hour urine copper levels were found high in the 94.5% of the patients (n=52). The mean ceruloplasmin level was lower and the mean urine copper level was higher in the group with high signal intensity on T2-weighted image and in the group with darc paramagnetic signal in SWI than others. Conclusion: Although biochemical tests are used in the diagnosis of Wilson disease, additional findings are needed to confirm the diagnosis. Brain MRI findings can be helpful in the diagnosis. © 2021 by Türkiye Klinikleri.