Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures

Acute intermittent porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with acute intermittent porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute intermittent porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.

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Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures

Indian Journal of Critical Care Medicine ◽

10.5005/jp-journals-10071-23532 ◽

2020 ◽

Vol 24 (8) ◽

pp. 724-726

Author(s):

Sarala Kumari Daram ◽

Murthy NLN Arumilli ◽

L Siva Kumar Reddy ◽

Duvvuru Nageshwar Reddy ◽

Revanth Motor

Keyword(s):

Abdominal Pain ◽

Posterior Reversible Encephalopathy Syndrome ◽

Acute Intermittent Porphyria ◽

Posterior Reversible Encephalopathy ◽

Reversible Encephalopathy

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

Journal of Medical Research and Innovation ◽

10.15419/jmri.142 ◽

2018 ◽

pp. e000142

Author(s):

Hemalata Arora ◽

Gaurav Baheti ◽

Ankur Jain ◽

Maulik Bhalsod ◽

Varshil Mehta

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Posterior Reversible Encephalopathy Syndrome ◽

Acute Abdominal Pain ◽

Acute Intermittent Porphyria ◽

Synthesis Process ◽

Posterior Reversible Encephalopathy ◽

Heme Synthesis ◽

Co Morbidity ◽

Reversible Encephalopathy

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.

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