
Adult-onset seizures as the initial presentation of acute intermittent porphyria
Abstract
Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by the deficiency of enzyme porphobilinogen deaminase used in haeme biosynthesis. Nonspecific abdominal pain is the classical presentation of AIP. Patients rarely present with rapid-onset neurological manifestations such as acute peripheral neuropathy or seizures. The knowledge on the management of seizures in AIP is important as some antiepileptic drugs may exacerbate acute attack. Hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion is a recognised cause of seizures in AIP. We report a case of a 20-year-old woman presenting to a tertiary care hospital in Sri Lanka with seizures due to hyponatremia who was eventually diagnosed with AIP. Although AIP is not frequently reported in Sri Lanka, it’s important to have a strong clinical suspicion as an early diagnosis will reduce mortality and morbidity.
© 2023 A. S. Rajapaksha, R. Kalupahana, A. Fernando, E. Jasinge, U. Eranthaka, published by Ceylon College of Physicians
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