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以腹疼为首发表现的急性间歇性血卟啉病合并后部可逆性脑病综合征(PRES)

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain.

机构信息

Neurology Department, Wagga Wagga Base Hospital, Wagga Wagga, Australia

Neurology Department, St Vincent's Hospital Sydney, Sydney, Australia.

出版信息

Pract Neurol. 2020 Dec;20(6):486-488. doi: 10.1136/practneurol-2020-002599. Epub 2020 Jun 17.

Abstract

Acute intermittent porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with acute intermittent porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute intermittent porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.

摘要

急性间歇性卟啉病是一种罕见的遗传性疾病,其血红素合成受阻会导致卟啉前体的过度产生。偶尔,它与后部可逆性脑病综合征(PRES)相关,表现为头痛、意识混乱、癫痫发作和视觉障碍。我们描述了一位患有急性间歇性卟啉病的患者,其表现为癫痫发作和 PRES,且此前有不明原因的严重腹痛。急性间歇性卟啉病应被视为 PRES 的可能病因,尤其是在那些有不明原因腹痛的患者中,因为延迟诊断可能导致永久性并发症。

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