Lai Jinxing, Zhong Zhenzhou, Lai Zhaohui, Liu Xianghong
Department of Neurology, The Affiliated Ganzhou Hospital of Nanchang University, Ganzhou, CHN.
Emergency Department, The Affiliated Ganzhou Hospital of Nanchang University, Ganzhou, CHN.
Cureus. 2023 Sep 21;15(9):e45736. doi: 10.7759/cureus.45736. eCollection 2023 Sep.
Acute intermittent porphyria (AIP) is the most common form of acute porphyria and is characterized by acute onset and recurrent episodes. Clinical presentation frequently initiates with gastrointestinal symptoms and is often misdiagnosed or delayed secondary to nonspecific symptoms. Acute porphyria with epilepsy as the primary symptom is a very unusual or unexpected manifestation. This family case found an unexpected association between acute porphyria and seizures. This patient is a 33-year-old woman whose initial symptom was symptomatic epilepsy, followed by significant abdominal pain. After excluding infection, immunity, and other factors, whole exome sequencing analysis showed the presence of c.22dupG mutation in the HMBS gene and the patient was finally diagnosed with AIP. Her symptoms significantly improved after receiving high-glucose and high-carbohydrate load treatment. This case report is rare and suggests that for patients who experience epileptic seizures coupled with complaints related to the abdomen, the possibility of porphyria should be specially considered in the differential diagnosis.
急性间歇性卟啉病（AIP）是急性卟啉病最常见的形式，其特点是急性起病且反复发作。临床表现常以胃肠道症状开始，且常因症状不具特异性而被误诊或延误诊断。以癫痫为主要症状的急性卟啉病是一种非常不寻常或意外的表现。这个家族病例发现了急性卟啉病与癫痫发作之间意想不到的关联。该患者是一名33岁女性，最初症状是症状性癫痫，随后出现严重腹痛。在排除感染、免疫等因素后，全外显子测序分析显示HMBS基因存在c.22dupG突变，该患者最终被诊断为AIP。接受高糖和高碳水化合物负荷治疗后，她的症状明显改善。本病例报告很罕见，提示对于经历癫痫发作并伴有腹部相关主诉的患者，在鉴别诊断中应特别考虑卟啉病的可能性。
