Open AccessNeuro-ophthalmological consequences of acute influenza A encephalitis in a genetically predisposed child
Author(s) -
Catarina Xavier,
Miguel Vieira,
Cristina Ferreira,
Joana Ferreira
Publication year - 2020
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2020-235636
Subject(s) - medicine , encephalopathy , disease , population , virus , rare disease , pathology , neurology , mutation , pediatrics , gene , virology , genetics , biology , environmental health , psychiatry
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.