PMC8555623_01
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.. 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.
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V1
Ophthalmological examination revealed presence of corneal Keyser-Fleischer ring (Figure 1). Magnetic resonance imaging (MRI) of brain revealed presence of bilateral, symmetric, putaminal and caudate hyperintensities on T2 weighted sequences (Figure 1). Surface electromyography (EMG) of both upper limbs showed alternate bursts of muscle activity over flexor digitorum superficialis and extensor digitorum communis (Figure 1).