Janz Syndrome (Youth Mioclonics), Two Brothers Case Report and Literature Review

G. Nava
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Abstract

Introduction: Juvenile myoclonic epilepsy classified as a generalized genetic epilepsy, It occurs with sudden jerks of the upper limbs and if the lower limbs are affected, with falls and without loss of consciousness. They occur preferably in the first minutes upon waking. They are triggered by sleep deprivation and alcohol intake. The disease follows a non-progressive course Clinical Case: A 15-year-old female patient presented to the service due to an absence crisis and an apparent insomnia problem. The semiology of absence crisis is interrogated and in effect, as well as occasional nocturnal myoclonus, electroencephalogram is performed and a 4 Hz slow wave poly tip pattern is found throughout the stroke, especially in photo stimulation (Figure 1, 2). The patient has an older brother of 17 years who has developed school problems without a previous diagnosis of epilepsy, electroencephalogram is performed and also presents a generalized slow-wave poly tip pattern (Figure 3, 4) treatment with valproate is initiated with good response
Janz综合征(青年肌克隆),两兄弟病例报告及文献复习
青少年肌阵挛性癫痫被归类为一种全身性遗传性癫痫,发病时上肢突然抽搐,如果下肢受到影响,可摔倒,无意识丧失。它们最好发生在醒来后的最初几分钟。它们是由睡眠不足和酒精摄入引发的。临床病例:一名15岁女性患者,因缺勤危机和明显的失眠问题而就诊。对缺失危机的符号进行了询问,并有效地进行了检查,以及偶尔的夜间肌阵挛,进行了脑电图检查,在整个中风中发现了4hz慢波多尖端模式,特别是在光刺激中(图1,2)。患者有一个17岁的哥哥,他在没有癫痫诊断的情况下出现了学习问题,进行了脑电图检查,也出现了普遍的慢波多尖端模式(图3)。4)丙戊酸开始治疗后反应良好
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