Abstract

Wilson’s disease is inherited in autosomal recessive pattern and can manifest in the form of hepatic, neurological or psychiatric symptoms. The neurological manifestations are still a clinical enigma and are being studied continuously for a better understanding.
Aims: To describe the range of abnormalities in brain magnetic resonance imaging (MRI) of patients with Wilson’s disease having neurological manifestations and their correlation with clinical findings and to evaluate the sensitivity of different MRI brain sequences in identifying the lesions in these patients
Materials and Methods: A descriptive cross-sectional study was conducted in the department of radiology, Nil Ratan Sircar Medical College and Hospital for a duration of one year from August 2021 to July 2022. A total of 23 patients of Wilson’s disease having neurological manifestations who attended the medicine or neuro-medicine outpatient department of Nil Ratan Sircar Medical College and Hospital, Kolkata were included in the study.
Result: The present study revealed abnormalities in the brain MRI of all the patients of Wilson’s disease with neurological manifestations. The sequences having highest sensitivity for the lesions were T2-weighted (96.4%) and T2-weighted FLAIR (96.4%) (Fluid-attenuated inversion recovery). Putamen (86.9%) was the most common site of involvement. Lesions in the region of thalamus, globus pallidus and putamen correlated with choreoathetosis. Number of MRI lesions correlated with age at presentation (p-value = 0.032).
Conclusion: Neurological symptoms are a common form of Wilson’s disease manifestation. Patients with neurological manifestations have characteristic signal intensity alterations on MRI study of brain especially in basal ganglia region. These signal alterations can be best picked up by T2-weighted and T2-weighted FLAIR sequences. MRI lesions show association with clinical features like tremors and choreoathetosis, and age at presentation