Pereira Andreia G, Bahi-Buisson Nadia, Barnerias Christine, Boddaert Nathalie, Nabbout Rima, de Lonlay Pascale, Kaminska Anna, Eisermann Monika
Pediatric Neurology Service, Dona Estefânia Hospital, Centro Hospitalar Lisboa Central, EPE, Lisbon, Portugal.
Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, INSERM U781, Paris Descartes University, Paris.
Epileptic Disord. 2017 Mar 1;19(1):15-23. doi: 10.1684/epd.2017.0901.
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG and epileptic spasms. Epileptic spasms were observed in patients with ALG1-, ALG6, ALG11-CDG and CDG-Ix, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months. In this patient, spasms had an unusual aspect; they did not occur in clusters and were immediately preceded by a myoclonus. All but one child also presented rare myoclonias. On EEG, background activity was poorly organized with abundant posterior spike and fast rhythm activity, but without hypsarrhythmia. At the last evaluation (age range: 6-12 years), two patients still presented epileptic spasms and subcortical myoclonias, one showed rare generalized tonic-clonic seizures, and two were seizure-free. CDG disorders can be associated with epileptic spasms showing particular features, such as absence of hypsarrhythmia, posterior EEG anomalies, and an unusual combination of epileptic spasms with myoclonus. These features, associated with pre-existing developmental delay and subcortical myoclonias, may shift toward CDG screening. [Published with video sequence and supplemental EEG plates on www.epilepticdisorders.com].
先天性糖基化障碍（CDG）是一组罕见的代谢性疾病，其特征为糖基化受损。多系统受累较为常见，中枢和外周神经系统的神经功能障碍尤为严重且致残。癫痫很常见，但详细的电临床描述却很少见。我们回顾性地描述了5例患有CDG和癫痫性痉挛的儿童的电临床特征。在患有ALG1 -、ALG6、ALG11 - CDG和CDG - Ix的患者中观察到癫痫性痉挛，且均在早期发病，除1例18个月开始出现痉挛外，其余所有病例均在6个月前发病。在该患者中，痉挛表现异常；它们不是成簇出现，且在肌阵挛之前立即发作。除1名儿童外，其他所有儿童还出现了罕见的肌阵挛。脑电图显示，背景活动组织不良，后头部有大量棘波和快节律活动，但无高峰失律。在最后一次评估时（年龄范围：6 - 12岁），2例患者仍有癫痫性痉挛和皮质下肌阵挛，1例出现罕见的全身强直 - 阵挛发作，2例无癫痫发作。CDG疾病可能与具有特殊特征的癫痫性痉挛相关，如无高峰失律、脑电图后头部异常，以及癫痫性痉挛与肌阵挛的异常组合。这些特征，再加上先前存在的发育迟缓及皮质下肌阵挛，可能会促使进行CDG筛查。[本文配有视频序列和补充脑电图图谱，发表于www.epilepticdisorders.com]
