Epileptic spasms in congenital disorders of glycosylation.
Epileptic spasms in congenital disorders of glycosylation.
复制标题
先天性糖基化障碍引起的癫痫痉挛。
作者：
A. G. Pereira;N. Bahi;C. Barnerias;N. Boddaert;R. Nabbout;P. de Lonlay;A. Kaminska;M. Eisermann
先天性糖基化障碍（CDG）是一组以糖基化受损为特征的罕见代谢性疾病。多系统受累是常见的，神经功能损害尤其严重，涉及中枢和外周神经系统。癫痫是常见的，但详细的电临床描述是罕见的。我们回顾性地描述了5例CDG和癫痫痉挛儿童的电临床特征。在ALG 1-、ALG 6、ALG 11-CDG和CDG-Ix患者中观察到癫痫痉挛，并且在所有病例中均发生在6个月之前的早期年龄，除了1例在18个月时开始痉挛。在这个病人中，痉挛有一个不寻常的方面，他们没有发生在集群，并立即由肌阵挛。除一名儿童外，所有儿童均出现罕见的肌阵挛。EEG背景活动组织不良，后部棘波和快节律活动丰富，但无高度心律失常。在末次评价时（年龄范围：6-12岁），2例患者仍表现为癫痫痉挛和皮质下肌阵挛，1例患者表现为罕见的全身强直阵挛性癫痫发作，2例患者无癫痫发作。CDG障碍可与显示特定特征的癫痫痉挛相关，例如不存在高心律失常、后部EEG异常以及癫痫痉挛与肌阵挛的不寻常组合。这些特征，与预先存在的发育迟缓和皮质下肌阵挛，可能转向CDG筛查。[在www.epilepticdisorders.com上发布了视频序列和补充EEG板]。
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].
影响因子：
3.9
作者：
Thiel, Christian;Rind, Nina;Koerner, Christian
通讯作者：
Koerner, Christian