Acute Intermittent Porphyria in Childhood Presenting with Hypertensive Emergency and Posterior Reversible Encephalopathy Syndrome

• Main Authors: Rishab Bharadwaj, Pallavi P Dagli, Aasheeta S Shah
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2016-01-01
• Series: Journal of Pediatric Critical Care
• Subjects: acute intermittent porphyria; posterior reversible encephalopathy syndrome; hypertensive crisis
• Online Access: http://www.jpcc.org.in/article.asp?issn=2349-6592;year=2016;volume=3;issue=2;spage=58;epage=60;aulast=Bharadwaj
• ISSN: 2349-6592; 2455-7099

Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system. We report an 8 year old female who had presented with hyponatremia, psychiatric manifestations, seizures, hypertension and Posterior Reversible Encephalopathy Syndrome (PRES) with a delayed diagnosis of Acute Intermittent Porphyria. As porphyria is thought to be very rare in pre-pubertal age, in view of the potentially fatal outcome of a severe attack, a high index of suspicion is essential.