Gross-Tsur Varda, Ben-Zeev Bruria, Shalev Ruth S
Neuropediatric Unit, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel.
Pediatr Neurol. 2004 Oct;31(4):287-90. doi: 10.1016/j.pediatrneurol.2004.05.001.
Malignant migrating partial seizures in infancy is a rare, age-specific epileptic encephalopathy. It is characterized by onset before age 6 months, virtually continuous multifocal seizures with ictal electrical encephalographic activity shifting from one hemisphere to the other, no identifiable immediate or remote causes, intractability to antiepileptic drugs, and developmental arrest. This report adds two patients to the 21 previously described in the literature. One infant, microcephalic at birth, developed at age 4 months clusters of nearly continuous multifocal seizures with secondary generalization, refractory to antiepileptic drugs. By age 4.5 years she was seizure-free but remains without any cognitive or motor function. Patient 2, born with a normal head circumference, began seizures at age 3 months, never became seizure-free, and died at age 18 months. Electroencephalograms of both children were characteristic, and the neuroimaging finding was one of progressive cortical and subcortical atrophy. It has been hypothesized that neurotransmitter dysfunction with persistent, pronounced excitatory or cytotoxic mechanisms may explain the continuous, erratic epileptic activity. Awareness of malignant migrating partial seizures in infancy and research focused on its pathophysiologic mechanisms may reveal innovative treatments of this devastating, age-specific disorder.
婴儿期恶性游走性局灶性癫痫发作是一种罕见的、特定年龄的癫痫性脑病。其特征为发病于6个月龄之前，几乎持续存在多灶性癫痫发作，发作期脑电图活动从一个半球转移至另一个半球，无明确的近期或远期病因，对抗癫痫药物难治，以及发育停滞。本报告在文献中先前描述的21例基础上新增了2例患者。一名婴儿出生时小头畸形，4个月龄时出现几乎持续的多灶性癫痫发作簇并继发全面性发作，对抗癫痫药物难治。到4.5岁时她无癫痫发作，但仍无任何认知或运动功能。患者2出生时头围正常，3个月龄时开始发作，从未无癫痫发作，18个月龄时死亡。两名儿童的脑电图均具有特征性，神经影像学表现为进行性皮质和皮质下萎缩。据推测，具有持续、明显兴奋性或细胞毒性机制的神经递质功能障碍可能解释了持续、不规则的癫痫活动。认识婴儿期恶性游走性局灶性癫痫发作并专注于其病理生理机制的研究可能会揭示针对这种毁灭性的、特定年龄疾病的创新治疗方法。
