Ophthalmology, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal.
Ophthalmology, Hospital CUF de Cascais, Cascais, Portugal.
BMJ Case Rep. 2020 Sep 14;13(9):e235636. doi: 10.1136/bcr-2020-235636.
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 () 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 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.
急性坏死性脑病（ANE）是一种罕见的疾病，对应于由病毒感染引起的快速进行性脑病。它常与 RAN 结合蛋白 2 () 基因突变 -ANE1 相关。我们报告了一例 5 岁男孩的病例，其临床表现为流感，第 3 天后加重为急性脑病。补充检查对甲型流感病毒呈阳性，MRI 显示符合 ANE 的表现。他随后接受了相应的治疗，临床症状有所改善。在门诊随访中，检测到 基因发生突变，在眼科方面，进行视野检查时发现双侧周边收缩，双侧视盘周围视网膜神经纤维层明显变薄。我们的病例丰富了神经眼科文献，并扩展了这一罕见疾病在白种人群中的后遗症谱。
