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Wilson's disease in a 15-year-old boy: A case report and literature review of cases reported in India.
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- Abstract:
Excessive copper accumulation in various body organs is due to mutations of alleles located on the ATP7B gene on chromosome 13. The presence of musculoskeletal symptoms, neurological symptoms, and psychiatric symptoms individually promotes misdiagnosis. Complete knowledge of Wilson's disease (WD) promotes early resolution of the case. This study presents a case of WD and reviews literature published in India. A 15-year-old boy from a non-consanguineous family presented with tremors, dysphagia, drooling of saliva, emotional tantrums, and Kayser-Fleischer rings. Magnetic resonance imaging shows hyperintensity in the basal ganglia; the Leipzig score was 6. Based on the score the patient was diagnosed with WD. The patient was treated with zinc sulfate 50 mg, twice daily. Significant improvement was observed in neurological symptoms after 30 days. Early condition assessment avoids complications and promotes improvement of the patient's condition. Regular monitoring of therapy reduces the occurrence of adverse drug reactions. Counseling minimizes the possibility of events in the next generation and promotes early diagnosis of late-onset WD among family members. [ABSTRACT FROM AUTHOR]
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