【摘 要】
：
Objectives: Information about epilepsy in mitochondrial disorders (MIDs) is scarce although a number or syndromic and non-syndromic MIDs frequently manifest with focal or generalised seizures.Aim of t
【机 构】
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Danube University Krems Austria
【出 处】
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BIT`s 2nd Annual World Congress of Endobolism-2012(2012第二届内分
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Objectives: Information about epilepsy in mitochondrial disorders (MIDs) is scarce although a number or syndromic and non-syndromic MIDs frequently manifest with focal or generalised seizures.Aim of the study was to describe epilepsy in syndromic and non-syndromic MIDs with epilepsy as a dominant or collateral feature of the phenotype.Methods: Reviewed were the records of patients with epilepsy in whom also a MID was diagnosed.Records were particularly reviewed for type of epilepsy, type of seizures, seizure frequency, antiepileptic treatment, collateral manifestations of MID, and outcome.Results: syndromic MIDs obligatory associated with epilepsy include MELAS-syndrome, MERRF-syndrome, Leighsyndrome, MEMSA (SCAE), ANS, Alpers-Huttenlocher-disease, and Wolf-Hirschhorn-syndrome.Occasionally,epilepsy is a phenotypic feature in LHON, NARP, MILS, MIDD, CPEO, KSS, IOSCA, LBSL, or Wolfram-syndrome.All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.Treatment of epilepsy in patients with MIDs is not at variance from epilepsy of other causes but mitochondrion-toxicity of various antiepileptic drugs, such as valproic acid, carbamazepine etc.has to be considered to avoid severe complications or deterioration of the underlying disease.Conclusions: epilepsy is a common phenotypic feature of syndromic as well as non-syndromic MIDs.Treatment of epilepsy in MIDs is not at variance from treatment of epilepsy due to other causes but mitochondrion-toxic drugs should be avoided.
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