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黏多糖贮积症中的夜间额叶癫痫

Nocturnal frontal lobe epilepsy in mucopolysaccharidosis.

作者信息

Bonanni Paolo, Volzone Anna, Randazzo Giovanna, Antoniazzi Lisa, Rampazzo Angelica, Scarpa Maurizio, Nobili Lino

机构信息

Epilepsy and Clinical Neurophysiology Unit, IRCCS "E. Medea", Conegliano, TV, Italy.

Epilepsy and Clinical Neurophysiology Unit, IRCCS "E. Medea", Conegliano, TV, Italy.

出版信息

Brain Dev. 2014 Oct;36(9):826-9. doi: 10.1016/j.braindev.2013.12.002. Epub 2014 Jan 18.

Abstract

Nocturnal frontal lobe epilepsy (NFLE) is an epileptic syndrome that is primarily characterized by seizures with motor signs occurring almost exclusively during sleep. We describe 2 children with mucopolysaccharidosis (MPS) who were referred for significant sleep disturbance. Long term video-EEG monitoring (LT-VEEGM) demonstrated sleep-related hypermotor seizures consistent with NFLE. No case of sleep-related hypermotor seizures has ever been reported to date in MPS. However, differential diagnosis with parasomnias has been previously discussed. The high frequency of frontal lobe seizures causes sleep fragmentation, which may result in sleep disturbances observed in at least a small percentage of MPS patients. We suggest monitoring individuals with MPS using periodic LT-VEEGM, particularly when sleep disorder is present. Moreover, our cases confirm that NFLE in lysosomal storage diseases may occur, and this finding extends the etiologic spectrum of NFLE.

摘要

夜间额叶癫痫(NFLE)是一种癫痫综合征,其主要特征是几乎仅在睡眠期间出现伴有运动体征的发作。我们描述了2名患有黏多糖贮积症(MPS)的儿童,他们因严重的睡眠障碍前来就诊。长期视频脑电图监测(LT-VEEGM)显示与NFLE一致的睡眠相关性运动过多性发作。迄今为止,MPS中尚未有睡眠相关性运动过多性发作的病例报道。然而,之前已经讨论过与异态睡眠的鉴别诊断。额叶癫痫的高发作频率会导致睡眠片段化,这可能是至少一小部分MPS患者出现睡眠障碍的原因。我们建议对MPS患者定期进行LT-VEEGM监测,尤其是在存在睡眠障碍的情况下。此外,我们的病例证实溶酶体贮积病中可能发生NFLE,这一发现扩展了NFLE的病因谱。

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