Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain

2020 ◽  
Vol 20 (6) ◽  
pp. 486-488
Author(s):  
Grace Swart ◽  
Su San Lim ◽  
Martin Jude
Keyword(s):  
Abdominal Pain ◽  
Posterior Reversible Encephalopathy Syndrome ◽  
Acute Intermittent Porphyria ◽  
Visual Disturbance ◽  
Severe Abdominal Pain ◽  
Genetic Condition ◽  
Posterior Reversible Encephalopathy ◽  
Reversible Encephalopathy ◽  
Possible Cause

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.

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

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.

scholarly journals Posterior reversible encephalopathy syndrome following appendicitis in a young child: A case report and review of the pediatric literature

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110534
Author(s):  
Yaseen Rafee ◽  
Ruba Allabwani ◽  
Tala Haddadin ◽  
Ahmad Kaddurah
Keyword(s):  
Posterior Reversible Encephalopathy Syndrome ◽  
Vasogenic Edema ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Altered Mental Status ◽  
Visual Disturbance ◽  
Complicated Appendicitis ◽  
Posterior Reversible Encephalopathy ◽  
Severe Infections ◽  
Reversible Encephalopathy

Posterior reversible encephalopathy syndrome is an acute or subacute neurological disorder with variable clinical manifestations including encephalopathy, headache, seizures, visual disturbance, and focal neurologic deficits. Neuroimaging often shows frequently reversible vasogenic edema that predominantly involves the subcortical parieto-occipital lobes. Posterior reversible encephalopathy syndrome has been associated with hypertension and reported in patients with many conditions including eclampsia/pre-eclampsia and immunosuppressive therapy. Recently, posterior reversible encephalopathy syndrome is recognized to occur in association with severe infections such as complicated appendicitis. Here, we describe a case of 11-year-old male admitted for complicated appendicitis and severe sepsis. He developed seizures and had an altered mental status 10 days into his hospitalization with brain magnetic resonance imaging findings consistent with posterior reversible encephalopathy syndrome. We review the pediatric literature and discuss the pathogenesis of posterior reversible encephalopathy syndrome in association with an infection. We highlight the importance of recognizing this syndrome as a possible cause for acute neurological deterioration in children with severe infections.

Posterior reversible encephalopathy syndrome as a rare presenting feature of acute intermittent porphyria

2015 ◽  
Vol 63 (4) ◽  
pp. 607 ◽  
Author(s):  
HansRaj Pahadiya ◽  
Jagdish Singh ◽  
Shashank Bhansali ◽  
Sukhdev Choudhary ◽  
Hemant Jangid ◽  
...  
Keyword(s):  
Posterior Reversible Encephalopathy Syndrome ◽  
Acute Intermittent Porphyria ◽  
Posterior Reversible Encephalopathy ◽  
Reversible Encephalopathy

scholarly journals Successful management of a patient with sudden loss of vision and eclampsia complicated by posterior reversible encephalopathy syndrome

2019 ◽  
Vol 8 (11) ◽  
pp. 4590
Author(s):  
Babita Vaswani ◽  
Sriram Gopal ◽  
Meena Satia
Keyword(s):  
Posterior Reversible Encephalopathy Syndrome ◽  
Visual Disturbance ◽  
Cortical Blindness ◽  
Common Mechanism ◽  
Successful Management ◽  
Posterior Reversible Encephalopathy ◽  
Sudden Loss ◽  
Reversible Encephalopathy ◽  
Visual Disturbances ◽  
Retinal Arteriolar

Reversible visual disturbances in patients with eclampsia may be due to either retinal detachment or retinal arteriolar vasospasm or thrombosis of the central retinal arteries or PRES (posterior reversible encephalopathy syndrome). Although retinal arteriolar vasospasm is the most common mechanism of visual disturbance, cortical blindness may occur in 1% to 15% of patients with eclampsia. Reporting herewith a case of reversible cortical blindness in the setting of severe preeclampsia complicated with eclampsia.

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