Clinical features, MRI brain, and MRS abnormalities of drug-naïve neurologic Wilson's disease

• Published in: Neurology India 2014-03, Vol.62 (2), p.153-158
• Main Authors: Pulai, Satyabrata, Biswas, Atanu, Roy, Arijit, Guin, Deb Sankar, Pandit, Alak, Gangopadhyay, Goutam, Ghorai, Prabhat Kumar, Sarkhel, Sujit, Senapati, Asit Kumar
• Format: Article
• Language: English
• Subjects: Adolescent; Chelation therapy; Child; Copper; Diagnosis; Disease; Dystonia - diagnosis; Dystonia - physiopathology; Female; Hepatolenticular Degeneration - complications; Hepatolenticular Degeneration - pathology; Hepatolenticular Degeneration - physiopathology; Humans; Magnetic resonance imaging; Magnetic Resonance Imaging - methods; Magnetic Resonance Spectroscopy - methods; Male; Methods; Nuclear magnetic resonance spectroscopy; Spectrum analysis; Statistical analysis; Studies; Tremor - diagnosis; Tremor - physiopathology; Wilson's disease; Young Adult
• ISSN: 0028-3886; 1998-4022
• DOI: 10.4103/0028-3886.132349

Magnetic resonance imaging (MRI) helps in the diagnosis of neurologic Wilson's disease (WD). The literature regarding MR spectroscopy (MRS) and diffusion-weighted imaging (DWI) in WD is limited. To evaluate the clinical features and neuroimaging findings in drug-naïve neurologic WD and to find correlation between clinical stage and disease duration with different imaging findings. The study subjects included consecutive and follow-up neurologic WD patients attending movement disorder clinic. The initial clinical and MRI features before commencement of chelation therapy were noted. Of 78 patients, 34 underwent DWI study and MRS was done in 38 patients and in 32 control subjects. Dystonia, dysarthria, tremor, and behavioral abnormality were common presenting features. All patients had MRI abnormality with major affection of basal ganglia. The clinical severity and anatomical extent of MRI abnormalities were positively correlated (P < 0.001; r s = 0.709). Presence of diffusion restriction was inversely related to duration of disease (P < 0.001; r s = 0.760). WD patients had reduced N-acetylaspartate/creatine (Cr) and choline (Cho)/Cr ratio (P < 0.001) as compared with control subjects in MRS study. Dystonia, dysarthria and tremor are common neurological features of WD. In this study, MRI abnormalities were positively correlated with disease severity; diffusion restriction was inversely correlated with the duration of the disease process. MRS was also a sensitive tool for diagnosing patient of neurologic WD.