Severe acute intermittent porphyria characterized by abdominal pain, seizures, and consciousness disorders: a case report
10.3760/cma.j.cn113694-20240414-00237
- VernacularTitle:以腹痛、癫痫发作、意识障碍为表现的重症急性间歇性卟啉病1例
- Author:
Ying XU
1
;
Qun WANG
Author Information
1. 首都医科大学附属北京天坛医院神经病学中心 国家神经系统疾病临床研究中心，北京 100070
- Keywords:
Porphyria, acute intermittent;
Epilepsy;
Electrolyte disturbance;
Reversible posterior encephalopathy syndrome
- From:
Chinese Journal of Neurology
2024;57(10):1144-1149
- CountryChina
- Language:Chinese
-
Abstract:
Acute intermittent porphyria (AIP) is an autosomal dominant inherited metabolic disorder caused by mutations in the HMBS gene, with clinical manifestations characterized by gastrointestinal and neurological involvement. Most patients have a favorable long-term outcome, and acute episodes usually recover, but some patients may have recurrent episodes, and severe acute episodes may be life-threatening. In this article, a 22-year-old female patient admitted to Beijing Tiantan Hospital of Capital Medical University is reported, who developed intermittent abdominal pain with vomiting, secondary seizures, and progressive aggravation of impaired consciousness due to unsafe medication after infection with COVID-19, and was diagnosed with AIP by combining the clinical manifestations and auxiliary examinations, and was given symptomatic treatments of arginate hemoglobin, hyperglycemia, antiepileptic, and anti-infection. And her symptoms improved. This case is reported to enrich clinicians′ understanding of this disease, to increase attention to the safe use of medication in porphyrias, and to improve diagnostic and therapeutic tools.
