Bahi-Buisson Nadia, Kaminska Anna, Nabbout Rima, Barnerias Christine, Desguerre Isabelle, De Lonlay Pascale, Mayer Michele, Plouin Perrine, Dulac Olivier, Chiron Catherine
Service de Maladies métaboliques et Neurologie Pédiatrique, Hôpital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris cedex 15, France.
Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x.
Epilepsy is one of the main features of Menkes disease (MD), although it is not described in depth. To determine the spectrum of epilepsy, we studied its main characteristics.
Based on clinical charts, we retrospectively analyzed the evolution of electroclinical features of 12 patients with confirmed MD.
Epilepsy could be divided into three periods: (a) an early stage (median age, 3 months), characterized by focal clonic status epilepticus, usually triggered by fever (10 patients). Ictal EEG showed runs of slow spike-waves and slow waves in the posterior regions, and interictal EEG multifocal and polymorphic slow waves (three cases), or mixed slow spike-waves and slow waves (seven cases). Partial seizure control was obtained in nine patients during 5.9 months; (b) an intermediate stage (median age, 10 months) with intractable infantile spasms (11 patients) in which interictal EEG demonstrated modified hypsarrhythmia (seven cases), diffuse irregular slow waves and spike-waves (four cases). Six patients died at the median age of 15 months; and (c) a late stage in the six remaining patients (median age, 25 months), with multifocal seizures, tonic spasms, and myoclonus in four patients, whereas two patients became seizure free. Interictal EEG showed multifocal high-amplitude activity, mixed with irregular slow waves in all six cases. These patients died at the median age of 3.6 years.
Based on a relatively large series of MD patients with a quite prolonged survival, we individualized three successive periods in the course of epilepsy: early focal status, then infantile spasms, and then myoclonic and multifocal epilepsy after age 2 years.
癫痫是门克斯病（MD）的主要特征之一，尽管对此并未深入描述。为确定癫痫的范围，我们研究了其主要特征。
基于临床病历，我们回顾性分析了12例确诊MD患者的电临床特征演变情况。
癫痫可分为三个阶段：（a）早期（中位年龄3个月），以局灶性阵挛性癫痫持续状态为特征，通常由发热诱发（10例患者）。发作期脑电图显示后部区域有慢棘波和慢波的节律性发放，发作间期脑电图显示多灶性和多形性慢波（3例），或慢棘波和慢波混合（7例）。9例患者在5.9个月内实现部分癫痫发作控制；（b）中期（中位年龄10个月），出现难治性婴儿痉挛（11例患者），发作间期脑电图显示变异型高峰节律紊乱（7例）、弥漫性不规则慢波和棘波（4例）。6例患者在中位年龄15个月时死亡；（c）晚期，其余6例患者（中位年龄25个月），4例出现多灶性癫痫发作、强直性痉挛和肌阵挛，而2例患者癫痫发作停止。发作间期脑电图显示所有6例均有多灶性高幅活动，并伴有不规则慢波。这些患者在中位年龄3.6岁时死亡。
基于一系列存活时间较长的MD患者，我们将癫痫病程分为三个连续阶段：早期局灶性癫痫持续状态，随后是婴儿痉挛，然后是2岁以后的肌阵挛性和多灶性癫痫。
