• Yu-Jung Park, Jae-Yeon Hwang, Yong-Woo Kim, Yun-Jin Lee, and Ara Ko.
• Department of Radiology, Pusan National University Yangsan Hospital, College of Medicine, Pusan National University.
• Medicine (Baltimore). 2021 Mar 26; 100 (12): e25171e25171.

RationaleAcute necrotizing encephalopathy (ANE) is a specific type of encephalopathy usually followed by febrile infection. It has an aggressive clinical course; however, it usually does not recur after recovery in cases of spontaneous ANE. Nevertheless, there are several studies reporting recurrences in familial ANE with RAN-binding protein 2 (RANBP2) mutation. There are few cases of familial ANE with RANBP2 mutation in Asian populations.Patients ConcernsA 21-month-old Korean boy who was previously healthy, presented with seizure following parainfluenza - a virus and bocavirus infection, followed by 2 recurrent seizure episodes and encephalitis after febrile respiratory illnesses. Meanwhile, his 3-year-old sister had focal brain lesions on neuroimaging studies when evaluated for head trauma. The siblings also had an older brother who presented status epilepticus after febrile respiratory illness at the age of 10 months old.DiagnosisBrain magnetic resonance imaging was performed to evaluate the seizure and neurologic symptoms. Imaging findings showed variable spectrum - from non-specific diffuse white matter injury pattern to typical "tricolor pattern" of the ANE on diffusion-weighted images. The other 2 siblings showed focal lesions in both external capsules and severe diffuse brain edema. Genetic tests identified a heterozygous missense mutation in the RANBP2 [c.1754C>T (p.Thr585Met)] in 2 siblings and their mother.InterventionsPatients were treated conservatively with anticonvulsive agents, intravascular immunoglobulin, and steroids.OutcomesAmong the 3 siblings, 2 male siblings died from familial ANE, whereas the female sibling was asymptomatic.LessonsThese cases highlight the radiological aspects of familial ANE with incomplete penetrance of the RANBP2 gene in 3 family members, showing variable involvements of the brain and natural history on magnetic resonance images. Radiologists should be aware of the typical and atypical imaging findings of familial ANE for prompt management of affected patients.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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