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Unexpected presentation of acute porphyria


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

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