期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 57, 期 1, 页码 37-39出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2013.11.003
关键词
Arrhythmia; Seizures; Mortality; Rapid onset dystonia-parkinsonism
资金
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- Swiss National Science Foundation
- SICPA Foundation, Prilly, Switzerland
Alternating hemiplegia is a rare condition presenting with episodes of hemiplegia, epileptic seizures and, at times, dysautonomic attacks. De novo ATP1A3 (Na+/K+ ATPase subunit) mutations were recently found to be the most common cause. We report a patient with alternating hemiplegia with de novo ATP1A3 mutation who experienced new-onset episodes of collapse in early adulthood unrelated to seizures. An implantable cardiac loop recorder documented episodes of asystole up to 5 s long. Subsequently a permanent pacemaker was implanted. ATP1A3 heart expression may be the explanation for the association of alternating hemiplegia and asystole episodes. Alternating hemiplegia has been associated with an increased risk of sudden death and lethal cardiac arrhythmias may be causative. Patients may need referral for appropriate cardiac investigations, especially if there is a change in symptoms. This case highlights the importance of clinical vigilance in patients with alternating hemiplegia. (C) 2013 Elsevier Masson SAS. All rights reserved.
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