Video 1
Stereotypies at presentation. Demonstration of a repetitive, involuntary, patterned, stereotypical, non-rhythmic movement of both upper limbs involving flexion extension “tapping” movement of fingers as well as “flapping” of both wrists. In addition, a non-rhythmic, side to side “no-no” head movement is noted, occurring independent of the hand movement. As it was suppressible, and not associated with any premonitory urge, it is, in all likelihood, a part of the stereotypical movement. Dystonia of forehead and lower jaw is evident (“vacuous smile”). Dystonic posturing of the toes of feet is also noted along with subtle choreiform movements (especially of left side). Subtle dystonic posturing of fingers of outstretched hands can be appreciated which is otherwise overshadowed by the dominant stereotypical movement.
Figure 1
(A) MRI Axial T2 weighted fluid attenuation inversion recovery (FLAIR) sequence showing symmetric hyperintensity of bilateral caudate and putamen as well as (B) hyperintensities of midbrain. (C) Demonstration of brown coloured KF ring in the patient (D) Surface EMG of right upper limb of patient with electrodes over Extensor digitorum communis (EDC) and flexor digitorum superficialis (FDS) showing alternating bursts of motor unit action potentials (MUAPs).
Video 2
Improvement on follow-up. Follow up video demonstrating reduction of stereotypies. It also shows the presence of dystonia of hands and neck and subtle choreiform toe movements.
Table 1
Illustration of previously reported cases of Wilson disease presenting with stereotypical movements and comparison with present case.
| YORIO AA ET AL., 1997 [7] | OKA Y ET AL., 2002 [8] | BHATTI A ET AL., 2018 [9] | PRESENT CASE | |
|---|---|---|---|---|
| Age/Sex | 26Y/Female | 45Y/Male | 31Y/Male | 12Y/Female |
| Stereotypical movement | Involuntary, patterned, repetitive movement of feet | Stereotypical, purposeless hand movements such as rubbing and clapping behind back | Finger flapping | Finger flapping |
| Brain imaging | Bilateral caudate, putamen, thalamic and upper brainstem T2 hyperintensity | Bilateral pallidal and brainstem involvement | Brain MRI showed abnormal T2 hyperintensities in the brainstem, with normal basal ganglia. FDG PET scan revealed severe hypometabolism in the basal ganglia | T2 hyperintensities in basal ganglia and midbrain |