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急性间歇性卟啉病伴发后部可逆性脑病综合征及脑电图显示的侧化周期性放电加快速活动。

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG.

作者信息

Silveira Diosely C, Bashir Mahrukh, Daniel Joshua, Lucena Michelle H, Bonpietro Frank

机构信息

JFK Neuroscience Institute and Seton Hall University of Health and Medical Sciences, 65 James Street, Edison, NJ 08820, United States.

Prefeitura Municipal de Curitiba, Secretaria de Saúde, Brazil.

出版信息

Epilepsy Behav Case Rep. 2016 Aug 25;6:58-60. doi: 10.1016/j.ebcr.2016.08.004. eCollection 2016.

Abstract

We report on a 20-year-old patient with a 6-month history of recurrent abdominal pain and a 3-day history of vomiting, hypertension, seizures, and encephalopathy. The brain MRI showed posterior reversible encephalopathy syndrome, and continuous EEG (cEEG) monitoring showed lateralized periodic discharges plus fast activity. Comprehensive CSF studies were negative. Because of severe abdominal pain without a definite etiology, we requested urine porphobilinogen and serum and fecal porphyrins, which suggested acute intermittent porphyria (AIP). The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet. Acute intermittent porphyria is potentially life-threatening without proper management and prevention of triggers if it is not recognized.

摘要

我们报告了一名20岁患者,有6个月反复腹痛病史,以及3天呕吐、高血压、癫痫和脑病病史。脑部MRI显示为后部可逆性脑病综合征,连续脑电图(cEEG)监测显示有侧化周期性放电加快速活动。全面的脑脊液检查结果为阴性。由于严重腹痛但病因不明,我们检测了尿卟胆原、血清和粪便卟啉,结果提示为急性间歇性卟啉病(AIP)。患者通过碳水化合物负荷和高热量饮食,症状完全缓解。急性间歇性卟啉病若未被识别,且未进行适当管理和预防诱因,可能会危及生命。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b80/5021915/269cfabea4aa/gr1.jpg

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