Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, NeuroCure Clinical Research Center, Berlin, Germany.
Brain Behav. 2021 Nov;11(11):e2389. doi: 10.1002/brb3.2389. Epub 2021 Oct 17.
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon-like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA-dehydratase porphyria (ALADP). Depending on the clinical presentation, the main differential diagnoses are Guillain-Barré syndrome and autoimmune encephalitis. Red flags that could raise the suspicion of acute porphyria are neurological symptoms starting after severe (abdominal) pain, in association with reddish urine, hyponatremia or photodermatitis, and the presence of encephalopathy and/or axonal neuropathy. We highlight the diagnostic difficulties by presenting three cases from our neurological intensive care unit and give a comprehensive overview about the diagnostic findings in imaging, electrophysiology, and neuropathology.
急性肝性卟啉症（AHP）可引起涉及中枢、自主和周围神经系统的严重神经症状。由于其相对罕见和表现形式多样，诊断延迟和误诊很常见。AHP 是遗传性疾病，由血红素生物合成酶缺乏引起，包括四种形式：急性间歇性卟啉症（AIP）、变异性卟啉症（VP）、遗传性粪卟啉症（HCP）和 ALA-脱水酶卟啉症（ALADP）。根据临床表现，主要的鉴别诊断是吉兰-巴雷综合征和自身免疫性脑炎。可能提示急性卟啉症的危险信号是严重（腹部）疼痛后出现神经症状，伴有红色尿液、低钠血症或光皮炎，以及脑病和/或轴索性神经病。我们通过介绍来自神经重症监护病房的三个病例，突出了诊断的困难，并对影像学、电生理学和神经病理学方面的诊断结果进行了全面概述。
