Acute intermittent porphyria with posterior reversible encephalopathy syndrome in pregnancy: a case report

Background: The porphyrias are a clique of metabolic disorders caused by a faulty heme-synthesis process. The acute intermittent porphyria (AIP) is the most common type of porphyria. It results from a decrease in the porphobilinogen deaminase enzyme levels (PBG-D) which plays a vital role in the hepatic phase of heme synthesis. Case Report: A 26-years-old lady without any co-morbidity or prior history of any disease came with acute abdominal pain. The causes of acute abdominal pain such as the ectopic pregnancy and other causes were excluded after investigations. She was eventually diagnosed with AIP and managed accordingly. The findings of MRI Brain were suggestive of posterior reversible encephalopathy syndrome (PRES). The patient was treated with hematin, glucose and symptomatic treatment were also given. However, the patient had persistent autonomic dysfunction and hyponatremia, followed by cardiac arrest and death. Conclusion: The diagnosis of AIP is often missed in cases of an acute abdominal pain in pregnant women. Early diagnosis of AIP during pregnancy followed by proper management is associated with favourable maternal and foetal outcome. Delay in the management leads to the worse outcomes like maternal morbidity, mortality or foetal loss.