Volume : VI, Issue : XII, December - 2016

Wilson’s disease: A study of 26 cases from south India

Dr Monika Ghai, Dr Mohini Singh, Dr S. R. Ramakrishnan

Abstract :

 Background : Wilson disease is an inborn error of copper metabolism, which is potentially treatable. This disease has protean manifestations and patient may first present to a psychiatrist, neurologist or gastroenterologist. Early and correct diagnosis and institution of proper treatment and lifelong continuation can prevent devastating consequences as the disease is treatable. Aims and objective :To describe the clinical presentation, biochemical, neuroimaging and therapeutic aspects of Wilson disease. Materials and methods: Twenty six Wilson‘s disease patients from may 2015 to april 2016, were retrospectively evaluated according to their clinical presentation, biochemical parameters, neuroimaging, response to therapy and outcome. Results: The study material included 12 males and 14 females with age ranging from 6 and 53 years respectively. The clinical syndrome included neurological in 8, followed by hepatic in 7 patients, combination of symptoms in 5, psychiatric and asymptomatic presentation in 3 patients each. Kayser–Fleischer rings were noted in 14 patients out of 26 patients. These rings were most prevalent in 7 patients with exclusive neurological manifestations followed by 4 patients with mixed disease presentation and 3 patients with exclusively hepatic symptoms. Serum ceruloplasmin levels ranged from 3.1 to 60.1 mg/dl and 22 (84%) out of 26 patients had serum ceruloplasmin levels < 20 mg/dl. 24 hour urinary copper (>100 µg/day) was increased in 17 (65%) patients with 24 hour urinary copper values varying from 26.16µg/day to 2445.68 µg/day. Serum copper was low (<70mg/dl) in 23 (88%) patients with serum copper values ranging from 13.1mg/dl to 129.4mg/dl. 8 patients had basal ganglia hyperintensity on T2–weighted MRI images, 2 patients showed hyperintensities in the ainstem, 2 patients showed involvement of thalamus and 1 patient had simultaneous involvement of the basal ganglia, thalamus, and ainstem. All the 26 patients were treated with D–penicillamine. 4 patients had worsening of symptoms, skin rash was noted in 3 cases, gastrointestinal intolerance was observed in 1 patient and 2 patients developed thrombocytopenia. In these cases the drug was substituted with zinc sulphate (150–250 mg/day). Conclusion: Wilson disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved with treatment. High index of suspicion is required for an early diagnosis and proper management to prevent the disabling sequalae. Screening of all asymptomatic siblings for Wilson disease is a very important issue and must be carried out in all.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Dr Monika Ghai, Dr Mohini Singh, Dr S. R. Ramakrishnan, Wilson¥s disease: A study of 26 cases from south India, Indian Journal of Applied Research,Volume : 6 | Issue : 12 | December 2016

Number of Downloads : 354

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