Antiepileptic treatment and blood lactate level alteration in patients with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome in a Chinese family

作者：Xiao, Fei; Li, Jia; Zhang, Xiaogang; Wang, Xuefeng^*

来源：Neurology Asia, 2013, 18(1): 47-51.

• MITOCHONDRIAL-DNA
• VALPROIC ACID
• DEFECTS
• MELAS
• LEVETIRACETAM
• METABOLISM
• MYOPATHY
• MUTATION
• PROTEIN

Background: Myoclonic epilepsy with ragged-red fibers (MERRF) is a type of mitochondrial encephalomyopathy, clinical experience with the antiepileptic treatment for myoclonus in MERRF is still limited. Myoclonus appears to be intractable, and some antiepileptic drugs may change the blood lactate level. Objective: In this study, we report on two patients, a girl and her mother, both with MERRF in a Chinese family. We aimed to study their myoclonus attack, response to AEDs and blood lactate level. Methods: The diagnosis was based on muscle biopsies and a genetic test. We recorded their myoclonus and detected alterations of blood lactate when the patients received antiepileptic drugs. Results: The patients displayed substantial differences in their responses to antiepileptic drugs. The mother exhibited a good response to valproic acid, although valproic acid is not recommended for mitochondrial disease; however, her daughter was refractory to many antiepileptic drugs until she received a combination treatment of levetiracetam and topiramate. We did not find valproic acid, levetiracetam or topiramate affected the blood lactate levels. @@@ Conclusion: These findings imply that not all MERRF patients are resistant to antiepileptic drugs, and for those who are intractable, combination treatment involving levetiracetam and topiramate may be effective for treating myoclonus in MERRF and does not worsen lactic acidosis.

• 出版日期2013-3
• 单位重庆医科大学