Objective: To study the epidemiological profile of neurologic Wilson’s disease (WD) and to study clinical, biochemical and radiological features of neurologic WD

Background: Wilson’s disease is treatable disease of copper metabolism affecting children’s and young adults usually in their first three decades of life. The disease has diverse manifestations causing hepatic dysfunction, neurologic, neuropsychiatric or neuromuscular symptoms.

Method: This was single center cross sectional observational study. Demographic parameters, clinical features and laboratory parameters were noted. Cranial magnetic resonance imaging (MRI) was done.

Results: 30 patients with neurologic WD included in study out of which, 17 were males and 13 were females. 3 patients had third degree parental consanguity and 2 patients were having siblings with WD. 17 (56.66%) patients presented in the second decade. Hand tremors was presenting symptoms in 18 (60%) patients, while speech abnormality in 6 (20%), difficulty in walking in 5 (16.66%) and myoclonic jerks in 1 (3.33%) were other presenting symptoms. K-F ring was present in all 30 patients. Reduced serum ceruloplasmin and increased 24 hour free copper excretion was found in all 30 patients. Putamen and caudate nuclei abnormalities was the most common finding on neuroimaging.

Conclusion: Most of the patients with neurologic WD presented in second decade. Hand tremors is most common presenting symptom. Increased 24 hour free copper excretion and reduced serum ceruloplasmin were most consistent biochemical abnormalities found in all patients.

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4 Bagchi M, Paul N, Ghosh S, Majumdar S, Saha S, et al. Spectrum of Abnormal Movement in a Cohort of Neuro-Wilson Patients with Radiological Associations. J Neurol Disord 2016; 4(1): 259.
5 Sinha S, Taly AB, Ravishankar S, Prashanth LK, Venugopal KS, Arunodaya GR, Vasudev MK, Swamy HS. Wilson’s disease: cranial MRI observations and clinical correlation. Neuroradiology. 2006 Sep;48(9):613-21.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/study-of-epidemiological-and-clinical-profile-of-neurologic-wilsons-disease-from-a-tertiary-care-hospital-in-india/