alexa Abstract | Clinical, Biochemical and Radiological Profile of Wilson's Disease from a Tertiary Care Referral Centre in India

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Background: Wilson’s disease is the commonest treatable movement disorder in young adults. The disease has protean manifestations & patient may first present to a psychiatrist, neurologist, hepatologist, nephrologist, gastroenterologist or rheumatologist. A high index of suspicion is required for an early diagnosis and proper management to prevent the disabling sequalae.

Aims & objectives: The current study aimed to evaluate the clinical, biochemical, neuroimaging, and therapeutic aspects of Wilsons Disease patients coming to neurology outpatient department and wards of a tertiary care university hospital primarily caring for patients coming from Eastern part of India during the period from November 2007 to August 2009.

Material & methods: The present study was carried out on 31 patients of Wilson’s disease. All the patients fulfilling the inclusion criteria were subjected to a detailed clinical history, physical and neurological examination as per the standard protocol prepared by us after an informed consent. Biochemical parameters (serum copper, ceruloplasmin and 24 hours urinary copper), Neuroimaging and electroencephalography were performed in all patients.

Results: The mean age of onset was 12.41 ± 4.41 years (range7 to 21.5 years), the mean delay indiagnosis was 16.96 ± 10.716 months (range 4.92 to 42 months) and the mean age at diagnosis was 13.83 ± 4.69 years (range 7.5 to 23 years) 24 (77.4%) patients were juveniles (age below 18 years) and 7(22.6%) were adults (age more than 18 years) Dystonia was the commonest initial neurologic feature and was seen in 20(64.5%) patients and was followed by dysarthria (41.9%), drooling of saliva (38.7%), parkinsonian features (38.7%), abnormal gait (25.8%), abnormal behaviour (22.6%), tremors (16.1%) and declining school performance (9.7%) Among the main neurological features, the dystonic group predominated with (83.9%) patients, followed by the parkinsonian group (64.5%), cerebellar group (22.6%) and the choreoathetoid group (9.7%). Dystonia and parkinsonian features were the commonest clinical presentations in juvenile patients, while the elderly group of patient showed predominantly cerebellar features.

Conclusion: Early and correct diagnosis and institution of proper treatment with lifelong continuation can prevent devastating consequences as the disease is treatable. Screening of all asymptomatic siblings for Wilson disease is an important issue and must be carried out in all.

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Author(s): Niraj Kumar Deepika Joshi Abu Zafar Ansari Surya Prakash Patidar Vijay Nath Mishra Rameshwar Nath Chaurasia


Wilson's disease clinical profile, Wilson's disease and copper studies, Wilson's disease and neuroimaging, General Medicine, Food poisoning

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