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DOI 10.1136/bcr-2021-241580

Медицинская библиотека · BMJ case reports · 2021

Unexpected presentation of acute porphyria.

Kiew Chiun Khang, Lam Adeline Serena Ee Ling

Клинический случайСтатьяПеревод в очереди

Аннотация

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.

Для цитирования: Kiew Chiun Khang, Lam Adeline Serena Ee Ling. Unexpected presentation of acute porphyria.. BMJ case reports. 2021. DOI: 10.1136/bcr-2021-241580.

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