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Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations.

Authors :
Visser NA
Braun KP
Leijten FS
van Nieuwenhuizen O
Wokke JH
van den Bergh WM
Source :
Journal of neurology [J Neurol] 2011 Feb; Vol. 258 (2), pp. 218-22. Date of Electronic Publication: 2010 Aug 29.
Publication Year :
2011

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.

Details

Language :
English
ISSN :
1432-1459
Volume :
258
Issue :
2
Database :
MEDLINE
Journal :
Journal of neurology
Publication Type :
Academic Journal
Accession number :
20803213
Full Text :
https://doi.org/10.1007/s00415-010-5721-2