A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease.

The aims of this study were evaluate motor, somatosensory, visual and auditory brainstem evoked potential (MEP, SEP, VEP, ABER) changes in Wilson disease (WD) and correlate these with magnetic resonance imaging (MRI) and clinical findings. Neurologic WD diagnosed on the basis of clinical, ceruloplasmin and Kayser-Fleischer ring were evaluated including pedigree charting, hepatic, renal, hematologic and osteoarticular manifestations. Blood counts, serum chemistry, MRI, MEP to tibialis anterior, tibial SEP, VEP and ABER were performed. Evoked potential (EP) changes were correlated with clinical and MRI findings. Eighteen WD patients were recruited from 17 families whose mean age was 16 years. Movement disorders were present in 14, cognitive decline in 12 and pyramidal signs in 12 patients. MRI revealed involvement of basal ganglia in 80%, thalamus in 40%, brain stem in 46.7% and subcortical white matter in 53.3%. MEP was abnormal in 35.7%, SEP in 30.8%, VEP in 57% and ABER in 61.5% patients; the latter three EP changes were subclinical. Frequency and number of EP abnormalities were higher with increasing severity of illness. SEP, VEP and ABER reveals subclinical abnormality and MEP helps in documenting both clinical and subclinical abnormalities. Number of EP abnormalities increases with increasing clinical severity of WD.