title: Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations.
abstract: 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.
authors.affiliation: Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands. n.a.visser-3@umcutrecht.nl
authors.forename: Nora A
authors.initials: NA
authors.lastname: Visser
authors.forename: Kees P J
authors.initials: KP
authors.lastname: Braun
authors.forename: Frans S S
authors.initials: FS
authors.lastname: Leijten
authors.forename: Onno
authors.initials: O
authors.lastname: van Nieuwenhuizen
authors.forename: John H J
authors.initials: JH
authors.lastname: Wokke
authors.forename: Walter M
authors.initials: WM
authors.lastname: van den Bergh
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use*; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D008274:Magnesium / Q000627:therapeutic use*; D009154:Mutation; D013226:Status Epilepticus / Q000188:drug therapy* / Q000235:genetics*; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; D008274:Magnesium
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