Volume : IX, Issue : VIII, August - 2020

Atypical presentation of Wilson's disease

Dr Puneeta Gupta, Dr Rohit Raina, Dr Imran, Dr Sahil, Dr Anil K. Gupta

Abstract :

A 17–year–old boy, who was eventually diagnosed with Wilson’s disease (WD), was initially seen with gradually progressive weakness for at least 4 months prior to developing more typical symptoms of the disease. The clinical presentations of WD are protean and varied. The phenotypic variability of WD often leads to delay in diagnosis, unless there is a high index of suspicion. In a large series of 307 patients of WD, evaluated at NIMHANS, Bangalore, misdiagnosis at initial evaluation was recorded in 62.5% cases, leading to a mean delay of two years in arriving at correct diagnosis and initiating treatment. Musculoskeletal involvement in WD is uncommon; in a large series only 22 of 282 (0.07%) patients with WD manifested muscular symptoms. Early diagnosis and treatment may prevent serious long–term disability and life threatening complications. Combination of an elevated creatinine kinase (ck) with transaminase elevation guide primarily to assumed diagnosis of neuromuscular disease. In rare cases an elevated ck with musculoskeletal symptoms can be the initial manifestation of Wilson disease. An early diagnosis of Wilson disease is important to avoid a toxic concentration of copper in the tissue.

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Article: Download PDF    DOI : 10.36106/ijsr  

Cite This Article:

ATYPICAL PRESENTATION OF WILSON'S DISEASE, Dr Puneeta Gupta, Dr Rohit Raina, Dr Imran, Dr Sahil, Dr Anil K. Gupta INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : Volume-9 | Issue-8 | August-2020

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