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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 1/2016

01-03-2016 | Original Article

The spectrum of epilepsy caused by POLG mutations

Authors: Wouter Janssen, Annelies Quaegebeur, Gert Van Goethem, Löfgren Ann, Katrien Smets, Rik Vandenberghe, Wim Van Paesschen

Published in: Acta Neurologica Belgica | Issue 1/2016

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Abstract

Mutations in POLG are increasingly recognized as a cause of refractory occipital lobe epilepsy (OLE) and status epilepticus (SE). Our aim was to describe the epilepsy syndrome in seven patients with POLG mutations. We retrospectively reviewed the medical records of seven patients with POLG mutations and epilepsy. Mutation analysis was performed by direct sequencing of the coding exons of the POLG gene. Disease onset was at a median age of 18 years (range 12–26). Epilepsy was the presenting problem in six patients. All had focal seizures, with motor (n = 6) and visual (n = 6) phenomena. Six patients had secondarily generalized seizures and two patients had myoclonic seizures. Six patients had one or more episodes of refractory SE, including focal (n = 5), subtle (n = 4), myoclonic (n = 2) and convulsive (n = 3) SE. During or after SE, brain MRI showed lesions affecting the occipital lobe in all patients, probably due to continuous epileptic activity. Five of the six patients with SE died during treatment of SE, one due to valproate-induced hepatotoxicity. Associated clinical symptoms were ataxia (n = 6), polyneuropathy (n = 6), progressive external ophthalmoplegia (PEO) (n = 3) and migraine (n = 3). Epilepsy may be the first and dominant neurological problem caused by POLG mutations. The epilepsy may be severe and the condition of the patient may end in fatal SE. Refractory OLE and SE in a patient with polyneuropathy, ataxia, PEO or migraine warrant screening for POLG mutations. In this clinical setting, valproate should not be given in view of the risk of fatal hepatotoxicity.
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Metadata
Title
The spectrum of epilepsy caused by POLG mutations
Authors
Wouter Janssen
Annelies Quaegebeur
Gert Van Goethem
Löfgren Ann
Katrien Smets
Rik Vandenberghe
Wim Van Paesschen
Publication date
01-03-2016
Publisher
Springer Milan
Published in
Acta Neurologica Belgica / Issue 1/2016
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-015-0499-8

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