Myoclonic-chorea in PURA syndrome

Case presentation: A 5-year-old female with a history of neurodevelopmental delay, hypersomnolence, seizures, and feeding disturbance, presented complex movement disorder. Clinically, there was abnormal facial features, hypotonia, the patient mixed hyperkinetic disorder, consisting chorea, dystonia, myoclonus, hand stereotypies. The presence generalized interposed those movements, resembled “stop-motion” animation (Video 1), similar to technique, in which objects are photographed frames by frame. Brain MRI showed mild frontal cortical atrophy (Fig. 1). Genetic investigation performed, CGH-array finding pathogenic variant PURA gene, compatible Syndrome1.