Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency
Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency
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DOI：
10.1016/j.pediatrneurol.2006.01.012
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发表时间：
2006-08-01
影响因子：
3.8
通讯作者：
Han, Si Hoon
中科院分区：
文献类型：
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作者：
Kang, Hoon-Chul;Kim, Heung Dong;Han, Si Hoon
Landau-Kleffner综合征的特征是癫痫失语伴随慢波睡眠的电状态。一名5岁女性，表现出正常的发育过程，在之前的4个月内主诉波动性感觉性失语和奇怪的行为。Landau-Kleffner综合征的临床和脑电特征得到证实，此外，患者的线粒体呼吸链复合体I缺乏症经成纤维细胞培养证实，有能量代谢紊乱的证据。患者的癫痫发作对多种抗癫痫药物、促肾上腺皮质激素和静脉注射免疫球蛋白无效，认知和行为严重下降，但生酮饮食配合辅酶Q10、核黄素、L肉碱和大剂量复合维生素等线粒体鸡尾酒成功控制了癫痫发作。患者最终恢复了完全正常的认知功能。在此病例中，伴有线粒体呼吸链复合体I缺乏症的Landau-Kleffner综合征通过生酮饮食和补充线粒体鸡尾酒疗法得到控制。(C)2006，Elsevier Inc.保留所有权利。
Landau-Kleffner syndrome is characterized by epileptic aphasia associated with electrical status epllepticus of slow wave sleep. A 5-year-old female, who had manifested normal developmental progress, was referred with principal complaints of fluctuating sensory aphasia and bizarre behavior during the preceding 4 months. Landau-Kleffner syndrome was confirmed by clinical and electroencephalographic features; in addition, the patient's mitochondrial respiratory chain-complex I deficiency was confirmed by fibroblast culture with the evidence of energy metabolism disorder. This patient's seizures were intractable to many antiepileptic drugs, adrenocorticotrophic hormone, and intravenous immunoglobulin, with catastrophic cognitive and behavioral decline, but the seizures were successfully controlled by ketogenic diet with supplementary mitochondrial cocktail including coenzyme Q10, riboflavin, L-carnitine, and high-dose multivitamins. The patient finally regained fully normal cognitive functioning. Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency was controlled in this case by ketogenic diet and supplementary mitochondrial cocktail therapy. (c) 2006 by Elsevier Inc. All rights reserved.