以瑞氏样综合征表现发病的原发性肉碱缺乏症

Chinese Journal of Endocrinology and Metabolism(2014)

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Abstract
患儿女婴,5个月7天,因“发热咳嗽8d,反复抽搐伴意识障碍2d”入院.8d前患儿发热38.5℃,伴咳嗽,胃纳差,次日热退,近2d咳嗽加重伴气喘,伴呕吐1~2次,精神变差,并突发抽搐,抽搐时双眼上翻或凝视,双上肢屈曲抖动,双下肢强直,每次发作2~3 min后缓解,反复发作4次,抽搐期及缓解期意识不清,予甘露醇、鲁米那等治疗抽搐缓解.既往史:出生体重3 500 g,母乳喂养,未添加辅食,生后未患其他疾病。
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