结节性硬化症一家系七例
Chinese Journal of Medical Genetics(2019)
Abstract
先证者(Ⅲ5)女,14岁,因"发作性意识丧失3年,加重3天"于2018年2月收入院.患者3年前因惊吓后出现意识丧失,伴双眼左上方斜视,持续数秒后缓解,结合临床症状及视频脑电图诊断为"癫痫".住院给予抗癫痫药物治疗,病情好转后出院,院外每日服用0.3g奥卡西平片,症状间断复发,未行诊治.3天前因急性上呼吸道感染后再发意识丧失,双眼仍斜视左上方,偶伴双上肢抽搐或尿失禁,10~20min发作一次,每次发作持续数秒缓解,发作间期意识不清.入院后查体:生长发育无异常,无智力障碍,神经系统无异常体征.双侧颊部散在粟粒状丘疹(图1A),四肢及腰骶部多处色素脱失斑(图1B),腰骶部鲨鱼皮样斑(图1C),趾末端甲周结节状纤维瘤样病变(图1D).
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