Auvin Stéphane, Pandit Florence, De Bellecize Jullita, Badinand Nicole, Isnard Hervé, Motte Jacques, Villeneuve Nathalie, Lamblin Marie-Dominique, Vallée Louis
Department of Pediatric Neurology, Lille University Hospital Roger Salengro, 59037 Lille Cedex, France.
Epilepsia. 2006 Feb;47(2):387-93. doi: 10.1111/j.1528-1167.2006.00433.x.
Benign myoclonic epilepsy in infants (BMEI) is a rare epileptic syndrome characterized only by generalized myoclonic seizures (MSs) in normal children during the first 2 years. Our aim was to assess the electroclinical features and the follow-up of this syndrome.
BMEI was confirmed by electroencephalogram (EEG) in four neuropediatric units in France between 1981 and 2002. Clinical and electroencephalographic findings at diagnosis and during the follow-up were collected. The Vineland scale or Wechsler scale or both were used to perform neuropsychological evaluations.
We report 34 patients with BMEI characterized by MSs occurring many times a day. The ictal EEG showed a generalized discharge of polyspikes, polyspikes-and-waves, or spikes-and-waves. The interictal EEG was usually normal. A family history of febrile seizures (FSs) or epilepsy was noted in six patients. A history of FSs was noted in 11 patients. Eleven patients had reflex MSs. Monotherapy with valproic acid was effective in 23 of 30 treated patients. The onset of epilepsy was known in all patients. Four patients had seizures after the initial symptoms. Juvenile myoclonic epilepsy developed in two patients, and cryptogenic partial epilepsy in another. Neuropsychological outcome was evaluated in 20 patients (10 with Wechsler scales and 17 with the Vineland scale). Cognitive functions were normal in 17 patients, whereas developmental delay was observed in three others.
BMEI is clinically characterized by myoclonic seizures involving the upper part of the body, occurring many times a day. The ictal EEG showed a generalized discharge of polyspikes, polyspikes-and-waves, or spikes-and-waves. The interictal EEG was usually normal. Reflex MSs were frequently observed, suggesting that two distinctive syndromes are not necessary. BMEI may be followed by juvenile myoclonic epilepsy. Despite a generally favorable neuropsychological outcome, mental retardation can be observed more frequently than in the general population.
婴儿良性肌阵挛癫痫（BMEI）是一种罕见的癫痫综合征，其特征仅为正常儿童在2岁前出现全身性肌阵挛发作（MSs）。我们的目的是评估该综合征的电临床特征及随访情况。
1981年至2002年间，法国四个神经儿科单位通过脑电图（EEG）确诊了BMEI。收集了诊断时及随访期间的临床和脑电图检查结果。使用文兰量表或韦氏量表或两者同时进行神经心理学评估。
我们报告了34例BMEI患者，其特征为每天多次出现MSs。发作期脑电图显示多棘波、多棘慢波或棘慢波的全身性放电。发作间期脑电图通常正常。6例患者有热性惊厥（FSs）或癫痫家族史。11例患者有FSs病史。11例患者有反射性MSs。30例接受治疗的患者中，23例使用丙戊酸单药治疗有效。所有患者癫痫发作的起始情况均已知。4例患者在初始症状后出现发作。2例患者发展为青少年肌阵挛癫痫，另1例发展为隐源性部分性癫痫。对20例患者（10例使用韦氏量表，17例使用文兰量表）进行了神经心理学结果评估。17例患者认知功能正常，另外3例观察到发育迟缓。
BMEI的临床特征为累及身体上部的肌阵挛发作，每天多次发作。发作期脑电图显示多棘波、多棘慢波或棘慢波的全身性放电。发作间期脑电图通常正常。经常观察到反射性MSs，提示不一定存在两种不同的综合征。BMEI可能继发青少年肌阵挛癫痫。尽管总体神经心理学结果良好，但与普通人群相比，智力发育迟缓的发生率可能更高。
