Radiological Imaging Features of Wilson’s Disease in an Early Adolescent Male: Case Report
Krishna Kumar M1*, Aboorva S2, Priyadarshini V2 and Ananda Kumar B3
1Professor of Radiology, Department of Radio-Diagnosis, Trichy SRM Medical College Hospital and Research Centre, Irungalur, Trichy, India
2Postgraduate Student and Resident, Department of Radio-Diagnosis, Trichy SRM Medical college hospital and Research Centre, Irungalur, Trichy, India
3Assistant Professor, Department of Radio-Diagnosis, Trichy SRM Medical College Hospital and Research Centre, Irungalur, Trichy, India
*Shared Authorship: Krishna Kumar M, Professor of Radiology, Department of
Radio-Diagnosis, Trichy SRM Medical College Hospital and Research Centre, Irungalur, Trichy, India.
January 12, 2023; Published: February 07, 2023
Inborn defect in the copper metabolism leads to Wilson’s disease (WD) with an autosomal recessive pattern of inheritance. Abnormal accumulation of copper in various tissues is caused by ATP7B mutation. In individuals affected by WD, however, impaired copper metabolism and excretion leads to the deposition of redundant free copper in the brain, liver, cornea, kidney and other organs, resulting in organ damage. Diagnosis of WD is made based on various neurologic and hepatic clinical symptoms, Kayser-Fleischer (K-F) rings in the cornea and biochemical tests for copper. Neurological manifestations of WD include pyramidal and extrapyramidal features, as well as cognitive and psychiatric symptoms. Earlier diagnosis and intervention are necessary for patients with WD. Both clinical symptoms and neuroimaging abnormalities are partially reversible with anti-copper treatment. Radiological imaging features were evaluated in a 13 years old preadolescent male with WD, who presented with involuntary movements of extremities, drooling of saliva, dysarthria, vomiting, itching and behaviour disorders for the past 45 days.
Keywords: Hepatolenticular Degeneration; Kayser-Fleischer Rings; Wilson’s Disease
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