The spectrum of epilepsy caused by POLG mutations
| Autor: | Gert Van Goethem, Rik Vandenberghe, Löfgren Ann, Annelies Quaegebeur, Katrien Smets, Wim Van Paesschen, Wouter Janssen |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Ataxia Neurology Adolescent DNA Mutational Analysis DNA-Directed DNA Polymerase Status epilepticus Young Adult 03 medical and health sciences Epilepsy 0302 clinical medicine Fluorodeoxyglucose F18 Humans Medicine Child business.industry Electroencephalography General Medicine medicine.disease Magnetic Resonance Imaging DNA Polymerase gamma 030104 developmental biology Migraine Positron-Emission Tomography Anesthesia Mutation Epilepsy syndromes Female Neurology (clinical) Human medicine medicine.symptom business Occipital lobe Polyneuropathy 030217 neurology & neurosurgery |
| Zdroj: | Acta neurologica Belgica |
| ISSN: | 0300-9009 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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