Delayed Diagnoses of SGCE Myoclonus-Dystonia.

Background: Myoclonus-dystonia due to SGCE mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms. Case reports: Herein, we report patients misdiagnosed during childhood with Tourette syndrome and dyskinetic cerebral palsy, and, during adulthood, found to harbor SGCE frameshift mutations. Discussion: Myoclonus-dystonia may be underdiagnosed due to phenotypic misclassification during childhood. SGCE mutations should be included in the differential diagnosis of childhood movement disorders that ostensibly manifest with tics, myoclonus, or abnormal posturing secondary to dystonia and/or spasticity. Highlights: Due to pleiotropy, variable penetrance, broad differential, and hereditary effects of imprinting, the diagnosis of a disorder of childhood onset, myoclonus-dystonia due to SGCE mutations, may be delayed until adulthood, often compromising appropriate clinical management and genetic counseling.

Safety and Efficacy of Transvenous Lead Extraction Utilizing the Evolution Mechanical Lead Extraction System: A Single-Center Experience.

OBJECTIVES: The goal of this study is to assess the safety and efficacy of mechanical lead extraction utilizing the Evolution system. BACKGROUND: Compared with other techniques commonly used for lead extraction, data regarding the safety and efficacy of mechanical lead extraction using the Evolution system is limited and needs further evaluation. METHODS: Between June 1, 2009 and September 30, 2016, we retrospectively analyzed 400 consecutive patients who exclusively underwent mechanical lead extraction utilizing the Evolution system. RESULTS: A total of 400 patients underwent mechanical lead extraction of 683 leads. Mean age of extracted leads was 6.77 ± 4.42 years (range 1 to 31 years). The extracted device system was an implantable cardioverter-defibrillator in 274 patients (68.5%) and a pacemaker system in 126 patients (31.5%). Complete lead removal rate was 97% with a clinical success rate of 99.75%. Incomplete lead removal with <4-cm remnant was associated with older leads (lead age >8 years). Failure to achieve clinical success was noted in 1 patient (0.25%). Cardiac papillary avulsion, system-related infection, and cardiac tamponade were the major complications noted in 6 patients (1.5%). Minor complications were encountered in 24 patients (6%), of which hematoma requiring evacuation was the most common minor complication. There were no patient deaths. CONCLUSIONS: In our single-center study, lead extractions utilizing the Evolution mechanical lead extraction system were safe and effective and resulted in high clinical and procedural success, with low complication rates and no fatalities.