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BMJ Case Rep ; 13(9)2020 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-32928829

RESUMO

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.


Assuntos
Encefalite Viral/genética , Vírus da Influenza A/genética , Influenza Humana/fisiopatologia , Pré-Escolar , Tosse/etiologia , Febre/etiologia , Predisposição Genética para Doença , Humanos , Vírus da Influenza A/patogenicidade , Influenza Humana/genética , Imageamento por Ressonância Magnética/métodos , Masculino , Rinorreia/etiologia
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