Teaching Video NeuroImage: Stop-Motion Chorea in PURA Syndrome

Abstract

A 5-year-old female, with abnormal facial features, strabismus, horizontal nystagmus, hypotonia, and a history of hypersomnolence, seizures and developmental delay, began to present a generalized complex movement disorder. Clinically, there was a mixed hyperkinetic movement disorder, consisting of chorea, dystonia, myoclonus, and hand stereotypies. The presence of generalized jerks, interposed with those complex movements, resembled a "stop-motion" animation (Video 1), similar to the animation technique, in which objects are physically manipulated in small

Movement Disorders in PURA Syndrome: A Video Case Series

“…These movements are interspersed with myoclonic jerks. This combination of hyperkinetic movements appears to be a hallmark of PS, as it confers a very distinctive particularity to the disease 7,8 . In other series, abnormal movements were detected in 23.9% 1 to 36% 5 of the patients.…”

“…This combination of hyperkinetic movements appears to be a hallmark of PS, as it confers a very distinctive particularity to the disease. 7,8 In other series, abnormal movements were detected in 23.9% 1 to 36% 5 of the patients. All reported patients exhibited hypotonia, feeding disorders, nystagmus, and a complex movement disorder.…”

“…The patient may present complex hyperkinetic movements, in which chorea-like dyskinesia may be the core movement, but often, associated with dystonic movements, myoclonus, hand stereotypies, and ataxia. 1,4,5,7,8 The presence of those movements is variable, but when present, can be very useful to the diagnosis. 7,8 In this study, we aimed to describe and discuss the complex phenomenology of the movements exhibited by four patients diagnosed with PS.…”

“…1,4,5,7,8 The presence of those movements is variable, but when present, can be very useful to the diagnosis. 7,8 In this study, we aimed to describe and discuss the complex phenomenology of the movements exhibited by four patients diagnosed with PS. All patients' parents provided written consent for publication, video, and image.…”

“…Movement disorders in PS are very rich phenomenologically. The patient may present complex hyperkinetic movements, in which chorea‐like dyskinesia may be the core movement, but often, associated with dystonic movements, myoclonus, hand stereotypies, and ataxia 1,4,5,7,8 . The presence of those movements is variable, but when present, can be very useful to the diagnosis 7,8 …”