Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction

Area of Science:

• Neurology
• Internal Medicine
• Radiology

Background:

• Posterior reversible encephalopathy syndrome (PRES) is associated with neuropsychiatric symptoms during acute hepatic porphyrias (AHP) attacks.
• Case reports suggest a link, but systematic review of clinical-radiological features and mechanisms is lacking.

Purpose of the Study:

• To systematically review the clinical-radiological features of PRES in patients with AHP during porphyric attacks.
• To investigate likely pathogenic mechanisms of PRES in this context.

Main Methods:

• Systematic literature search of PubMed, Scopus, Ovid MEDLINE, and Google Scholar up to July 30, 2019.
• Inclusion criteria: convincing evidence of AHP, confirmed porphyric attacks, and PRES on neuroimaging.

Main Results:

• 46 patients from 43 articles were analyzed; 84.8% were female, median age 24 years.
• Commonly observed: systemic arterial hypertension (70.2%), seizures (more frequent than expected, p<.001), mental changes, and hyponatremia (more frequent than expected).
• Brain lesions predominantly in occipital (81.4%) and parietal (65.1%) regions; cerebral vasoconstriction noted in 41.7%; 19.6% had ischemic lesions, 4.3% long-term sequelae.

Conclusions:

• Brain edema, vasoconstriction, and ischemia in PRES are likely responsible for central nervous system symptoms during some porphyric attacks.
• This systematic review highlights the clinical-radiological spectrum and potential mechanisms of PRES in AHP.