Kiew Chiun Khang, Lam Adeline Serena Ee Ling
General Medicine Department, Tan Tock Seng Hospital, Singapore.
General Medicine Department, Tan Tock Seng Hospital, Singapore
BMJ Case Rep. 2021 Jun 29;14(6):e241580. doi: 10.1136/bcr-2021-241580.
Acute porphyrias are rarely reported in Southeast Asia. They may be underdiagnosed due to their clinical mimicry and lack of awareness among physicians. There is a common cognitive bias to gravitate towards common conditions. In this case report, a 28-year-old woman, who presented with seizures, rhabdomyolysis hyponatraemia and altered mental state, was initially diagnosed as amphetamine overdose. She had presented 3 days prior with abdominal pain, treated for acute cystitis and discharged. On readmission for seizures a day later, she was extensively worked up for altered mental state. Despite normalisation of serum sodium concentration and control of her seizures, she remained unwell. Further investigations later confirmed a diagnosis of acute porphyria. The aim of this case report is to highlight the non-specific nature of presentation of acute porphyria and the importance of considering it as a differential diagnosis in cases of abdominal pain with neuropsychiatric features.
急性卟啉病在东南亚地区鲜有报道。由于其临床表现具有迷惑性且医生对此缺乏认识,这些病例可能未得到充分诊断。人们普遍存在倾向于常见病症的认知偏差。在本病例报告中,一名28岁女性出现癫痫发作、横纹肌溶解、低钠血症及精神状态改变,最初被诊断为苯丙胺过量。她3天前因腹痛就诊,接受了急性膀胱炎治疗后出院。一天后因癫痫再次入院时,对其精神状态改变进行了全面检查。尽管血清钠浓度恢复正常且癫痫得到控制,但她仍感觉不适。进一步检查后来确诊为急性卟啉病。本病例报告的目的是强调急性卟啉病临床表现的非特异性,以及在伴有神经精神症状的腹痛病例中将其作为鉴别诊断的重要性。