A 20 Years Old Lady with Quadriparesis and Convulsion: A Case Report

Abstract

Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease that is caused by a partial deficiency of hydroxymethylbilane and deficiency results in the accumulation of delta-aminolaevulinic acid (ALA) and porphobilinogen (PBG). ALA is believed to be neurotoxic and affects the autonomic, peripheral and central nervous systems. We found a 20 years old Bangladeshi female complaining of severe debilitating weakness of all limbs. She was suffering from recurrent upper abdominal pain for last one year and underwent an emergency appendicectomy 4 months back. 2 months back she experienced several episodes of generalized tonic clonic seizure. Last 21 days she suffered from acute onset quadriparesis and tingling and numbness in distal part of limbs with high colored urine which especially found at morning after wakening but she denied any history of fever, dysuria. She had palpitation, extreme sleep disturbance, neck and back pain. She had a history of injectable contraceptive 1 month back. Her vitals were normal except there was tachycardia. Motor examination revealed flaccid quadriparesis. All modalities of sensation were impaired up to knee. The electrophysiological findings are consistent with sensory-motor axonal polyneuropathy. The result of quantitative urinary PBG was positive. The diagnosis of acute intermittent porphyria was made on the basis of available evidence. The patient showed improvement in symptoms with the initial treatment. The disease management was focused on oral anti-seizure medication, sleep disorder medication, a controlled diet (300gram glucose/day), physical therapy and psychiatric support. Though, Hematin was not given due to
unavailability.

Journal of National Institute of Neurosciences Bangladesh, July 2025;11(2):191-197