caa a22 4500 445810904 CHVBK 20180317145211.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s00415-010-5721-2 doi (NATIONALLICENCE)springer-10.1007/s00415-010-5721-2 Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations [Elektronische Daten] [Nora Visser, Kees Braun, Frans Leijten, Onno van Nieuwenhuizen, John Wokke, Walter van den Bergh] Mutations in the gene encoding of the catalytic subunit of mtDNA polymerase gamma (POLG1) can cause typical Alpers' syndrome. Recently, a new POLG1 mutation phenotype was described, the so-called juvenile-onset Alpers' syndrome. This POLG1 mutation phenotype is characterized by refractory epilepsy with recurrent status epilepticus and episodes of epilepsia partialis continua, which often necessitate admission to the intensive care unit (ICU) and pose an important mortality risk. We describe two previously healthy unrelated teenage girls, who both were admitted with generalized tonic-clonic seizures and visual symptoms leading to a DNA-supported diagnosis of juvenile-onset Alpers' syndrome. Despite combined treatment with anti-epileptic drugs, both patients developed status epilepticus requiring admission to the ICU. Intravenous magnesium as anti-convulsant therapy was initiated, resulting in clinical and neurophysiological improvement and rapid extubation of both patients. Treating status epilepticus in juvenile-onset Alpers' syndrome with magnesium has not been described previously. Given the difficulties encountered while treating epilepsy in patients with this syndrome, magnesium therapy might be considered. The Author(s), 2010 Alpers' syndrome nationallicence POLG1 nationallicence Magnesium nationallicence Status epilepticus nationallicence Adolescence nationallicence Visser Nora Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Braun Kees Rudolf Magnus Institute of Neuroscience, Department of Child Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Leijten Frans Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut van Nieuwenhuizen Onno Rudolf Magnus Institute of Neuroscience, Department of Child Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Wokke John Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut van den Bergh Walter Department of Intensive Care, Academic Medical Centre, Amsterdam, The Netherlands aut Journal of Neurology Springer-Verlag 258/2(2011-02-01), 218-222 0340-5354 258:2<218 2011 258 415 https://doi.org/10.1007/s00415-010-5721-2 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-010-5721-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Visser Nora Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Braun Kees Rudolf Magnus Institute of Neuroscience, Department of Child Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Leijten Frans Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- van Nieuwenhuizen Onno Rudolf Magnus Institute of Neuroscience, Department of Child Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Wokke John Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- van den Bergh Walter Department of Intensive Care, Academic Medical Centre, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/2(2011-02-01), 218-222 0340-5354 258:2<218 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer