Hartley Molly, Sinha Anjana, Kumar Ashutosh, Aliu Ermal, Mainali Gayatra, Paudel Sita
Penn State College of Medicine, Hershey, PA, USA.
Division of Neurology, Department of Pediatrics, Pennsylvania State Health College of Medicine, Hershey, PA, USA.
Child Neurol Open. 2021 Jul 29;8:2329048X211030751. doi: 10.1177/2329048X211030751. eCollection 2021 Jan-Dec.
Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which presents as bilateral symmetric thalamic, midbrain and/or hindbrain lesions that typically develops within 1-4 days post-acute viral infection, commonly occurring before age 6. These case reports highlight a retrospective analysis of clinical data and radiographic studies on 2 ANE1 cases from our institution. The novel p.Leu450Phe variant of the gene was analyzed using in silico algorithms (PolyPhen-2, SIFT, Mutationtaster) which suggests the p.Leu450Phe variant is probably deleterious. An expansion of documented ANE1 case presentations and clinically significant gene mutations has the potential to improve long term outcomes if more informed therapeutic decision making can be achieved.
感染诱发的急性脑病3型（IIAE3）是一种常染色体显性疾病，由该基因的致病性变异引起。IIAE3导致易患急性坏死性脑病复发（ANE1），其表现为双侧对称性丘脑、中脑和/或后脑病变，通常在急性病毒感染后1 - 4天内出现，常见于6岁之前。这些病例报告重点是对我们机构2例ANE1病例的临床数据和影像学研究进行回顾性分析。使用计算机算法（PolyPhen - 2、SIFT、Mutationtaster）分析了该基因新的p.Leu450Phe变异，结果表明p.Leu450Phe变异可能有害。如果能够做出更明智的治疗决策，记录在案的ANE1病例表现和具有临床意义的基因突变的扩充可能会改善长期预后。
