| Literature DB >> 32928829 |
Catarina Xavier1, Miguel Boncquet Vieira1, Cristina Ferreira1,2,3, Joana Tavares Ferreira4,3,5.
Abstract
Acute necrotising encephalopathy (ANE) is a rare disease that corresponds to a rapidly progressive encephalopathy induced by a viral infection. It is frequently associated with a mutation on the RAN-binding protein 2 (RANBP2) gene-ANE1. We present a case of a 5-year-old boy with a clinical picture of influenza aggravated to an acute encephalopathy picture after the 3rd day. Complementary examinations came back positive for the influenza A virus, and MRI showed aspects compatible with ANE. He was treated accordingly with subsequent improvement of the clinical picture. During ambulatory follow-up, a mutation was detected on the RANBP2 gene and, at the ophthalmological level, bilateral peripheral constriction on the campimetry and a significant reduction of bilateral peripapillary retinal nerve fibre layer was reported. Our case contributes to the enrichment of the neuro-ophthalmological literature and expands the spectrum of sequelae of this rare entity in the Caucasian population. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.Entities:
Keywords: infection (neurology); neuroopthalmology; visual pathway
Mesh:
Year: 2020 PMID: 32928829 PMCID: PMC7490926 DOI: 10.1136/bcr-2020-235636
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X