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Unexpected presentation of acute porphyria
- Source :
- BMJ Case Rep
- Publication Year :
- 2023
-
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.
- Subjects :
- 0301 basic medicine
Adult
Pediatrics
medicine.medical_specialty
Abdominal pain
Case Report
Amphetamine overdose
Rhabdomyolysis
Diagnosis, Differential
03 medical and health sciences
Porphyrias
0302 clinical medicine
Seizures
Medicine
Humans
Acute Cystitis
030212 general & internal medicine
business.industry
General Medicine
medicine.disease
Abdominal Pain
030104 developmental biology
Porphyria
Porphyria, Acute Intermittent
Delirium
Female
medicine.symptom
Differential diagnosis
Presentation (obstetrics)
business
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 14
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- BMJ case reports
- Accession number :
- edsair.doi.dedup.....db8ef0401ac51cecd26d7ab3366ca5f8