Open AccessAcute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation
Author(s) -
Molly Hartley,
Anjana Sinha,
Ashutosh Kumar,
Ermal Aliu,
Gayatra Mainali,
Sita Paudel
Publication year - 2021
Publication title -
child neurology open
Language(s) - English
Resource type - Journals
ISSN - 2329-048X
DOI - 10.1177/2329048x211030751
Subject(s) - encephalopathy , medicine , mutation , disease , in silico , gene , bioinformatics , pathology , pediatrics , biology , genetics
Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the RANBP2 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. 1-6 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 RANBP2 gene was analyzed using in silico algorithms (PolyPhen-2, SIFT, Mutationtaster) which suggests the p.Leu450Phe variant is probably deleterious. 7 An expansion of documented ANE1 case presentations and clinically significant RANBP2 gene mutations has the potential to improve long term outcomes if more informed therapeutic decision making can be achieved.