Objective: 1. To describe the various neurological manifestations in Wilson’s disease

2. To describe the non-neurological manifestations in Wilson’s disease

Background: Wilson’s disease is a rare neurometabolic disorder caused due to genetic mutation in ATP7B gene which causes defect in copper metabolism. It has an autosomal recessive pattern of inheritance. The primary organs involved are the brain and the liver. However, other systems that can be involved are the hematological system, renal system, osseomuscular system, and cardiac system. The global prevalence of Wilson’s according to WHO is 30-100 / million. The neurological manifestations are heterogeneous. Patient may present with treomrs, dystonia, Parkinsonism, ataxia, choreoathetosis, dysarthria, cognitive impairment and or seizures.

Method: 1. It is an ambispective descriptive study done in the department of Neurology from February 2024 to January 2026. 

2. The data was collected and entered in predesigned proforma.

Results: In our study, there were 3 cases of Wilson’s disease during the study period of 2 years. The neurological symptoms were seen in all 3 patients with dystonia being the predominant clinical manifestation followed by dysarthria, cerebellar ataxia and cognitive impairment. All patient had bilateral KF ring.  MRI brain showed T2/Flair hyperintensities and T1 hypointense signals involving bilateral basal ganglia, cerebral peduncles, antero-thalami, subthalami and tectal pons. The features were suggestive of Wilson’s disease. The serum ceruloplasmin was low with high urinary copper levels. She had features of chronic liver disease. The patients were started on copper chelating agents in the form of Zinc acetate and Trientine. She was advised to modify her diet so as to not to consume copper containing food and not to cook in copper vessels. On follow up, her dystonia had significantly reduced and there was improvement in her liver function test.

Conclusion: Wilson disease is a rare neurometabolic disorder with varied age of presentation. The manifestations can be neurological or non neurological.  Early recognition and treatment is of utmost important in reducing the complications. Maintenance of long term therapy is very important to minimize the progression. Counselling regarding the diet inorder to avoid copper containing food and to prevent cooking in copper vessels needs to be emphasized. Screening of other family members is very important.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/spectrum-of-wilsons-disease-from-a-tertiary-care-hospital/