Article Text

Download PDFPDF
Unexpected presentation of acute porphyria
  1. Chiun Khang Kiew and
  2. Adeline Serena Ee Ling Lam
  1. General Medicine Department, Tan Tock Seng Hospital, Singapore
  1. Correspondence to Dr Adeline Serena Ee Ling Lam; adeline_el_lam{at}ttsh.com.sg

Abstract

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.

  • epilepsy and seizures
  • poisoning
  • delirium
  • metabolic disorders
  • genetic screening / counselling

Statistics from Altmetric.com

Footnotes

  • Contributors This clinical case was managed medically by both the first and second author, and both authors contributed to this report.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.