Acute intermittent porphyria in childhood presenting with hypertensive emergency and Posterior Reversible Encephalopathy Syndrome
Journal Title: Journal Of Pediatric Critical Care - Year 2016, Vol 3, Issue 2
Abstract
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.
Authors and Affiliations
Rishab Bharadwaj, Pallavi P. Dagli, Aasheeta S. Shah
Keywords
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- EP ID EP339521
- DOI 10.21304/2016.0302.00120
- Views 62
- Downloads 0
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