Literature DB >> 31706631

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

Daniel A Jaramillo-Calle1, Juan M Solano2, Alejandro A Rabinstein3, Herbert L Bonkovsky4.   

Abstract

BACKGROUND AND AIM: An association between neuropsychiatric manifestations and neuroimaging suggestive of posterior reversible encephalopathy syndrome (PRES) during porphyric attacks has been described in numerous case reports. We aimed to systematically review clinical-radiological features and likely pathogenic mechanisms of PRES in patients with acute hepatic porphyrias (AHP) and porphyric attacks.
METHODS: PubMed, Scopus, Ovid MEDLINE, and Google Scholar were searched (July 30, 2019). We included articles describing patients with convincing evidence of an AHP, confirmed porphyric attacks, and PRES in neuroimaging.
RESULTS: Forty-three out of 269 articles were included, which reported on 46 patients. Thirty-nine (84.8%) patients were women. The median age was 24 ± 13.8 years. 52.2% had unspecified AHP, 41.3% acute intermittent porphyria, 4.3% hereditary coproporphyria, and 2.2% variegate porphyria. 70.2% had systemic arterial hypertension. Seizures, mental changes, arterial hypertension, and hyponatremia occurred more frequently than expected for porphyric attacks (p < .001). Seizures and hyponatremia were also more frequent than expected for PRES. The most common distributions of brain lesions were occipital (81.4%), parietal (65.1%), frontal (60.5%), subcortical (40%), and cortical (32.5%). Cerebral vasoconstriction was demonstrated in 41.7% of the patients who underwent angiography. 19.6% of the patients had ischemic lesions, and 4.3% developed long-term sequelae (cognitive decline and focal neurological deficits).
CONCLUSIONS: Brain edema, vasoconstriction, and ischemia in the context of PRES likely account for central nervous symptoms in some porphyric attacks.
Copyright © 2019. Published by Elsevier Inc.

Entities:  

Keywords:  Central nervous system; Neuroimaging; Neuropsychiatry; Physiopathology; Porphyria; Posterior leukoencephalopathy syndrome

Mesh:

Year:  2019        PMID: 31706631     DOI: 10.1016/j.ymgme.2019.10.011

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  7 in total

1.  Endothelial Dysfunction in Acute Hepatic Porphyrias.

Authors:  Andrea Ricci; Gilda Sandri; Matteo Marcacci; Elena Di Pierro; Francesca Granata; Chiara Cuoghi; Stefano Marchini; Antonello Pietrangelo; Paolo Ventura
Journal:  Diagnostics (Basel)       Date:  2022-05-24

Review 2.  Acute porphyrias - A neurological perspective.

Authors:  Lea M Gerischer; Franziska Scheibe; Astrid Nümann; Martin Köhnlein; Ulrich Stölzel; Andreas Meisel
Journal:  Brain Behav       Date:  2021-10-17       Impact factor: 2.708

Review 3.  Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.

Authors:  Matteo Marcacci; Andrea Ricci; Chiara Cuoghi; Stefano Marchini; Antonello Pietrangelo; Paolo Ventura
Journal:  Orphanet J Rare Dis       Date:  2022-04-07       Impact factor: 4.123

4.  Porphyria-induced Postpartum Reversible Posterior Encephalopathy Syndrome.

Authors:  Shri R Sharma; Nalini Sharma; Baiakmenlang Synmon; Yasmeen Hynniewtaya
Journal:  Indian J Crit Care Med       Date:  2022-06

5.  Management and Clinical Outcome of Posterior Reversible Encephalopathy Syndrome in Pediatric Oncologic/Hematologic Diseases: A PRES Subgroup Analysis With a Large Sample Size.

Authors:  Marady Hun; Min Xie; Zhou She; Amin S Abdirahman; Cuifang Li; Feifeng Wu; Senlin Luo; Phanna Han; Rithea Phorn; Pan Wu; Haiyan Luo; Keke Chen; Jidong Tian; Wuqing Wan; Chuan Wen
Journal:  Front Pediatr       Date:  2021-07-01       Impact factor: 3.418

6.  High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach.

Authors:  Isabel Solares; Laura Izquierdo-Sánchez; Montserrat Morales-Conejo; Daniel Jericó; Francisco Javier Castelbón; Karol Marcela Córdoba; Ana Sampedro; Carlos Lumbreras; María Jesús Moreno-Aliaga; Rafael Enríquez de Salamanca; Pedro Berraondo; Antonio Fontanellas
Journal:  Biomedicines       Date:  2021-03-05

Review 7.  Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias.

Authors:  Andrea Ricci; Elena Di Pierro; Matteo Marcacci; Paolo Ventura
Journal:  Diagnostics (Basel)       Date:  2021-11-26
  7 in total

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