RT Journal Article
SR Electronic
T1 Unexpected presentation of acute porphyria
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e241580
DO 10.1136/bcr-2021-241580
VO 14
IS 6
A1 Chiun Khang Kiew
A1 Adeline Serena Ee Ling Lam
YR 2021
UL http://casereports.bmj.com/content/14/6/e241580.abstract
AB 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.