Department of Radiology, Pusan National University Yangsan Hospital, College of Medicine, Pusan National University.
Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital.
Medicine (Baltimore). 2021 Mar 26;100(12):e25171. doi: 10.1097/MD.0000000000025171.
Acute 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.
A 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.
Brain 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.
Patients were treated conservatively with anticonvulsive agents, intravascular immunoglobulin, and steroids.
Among the 3 siblings, 2 male siblings died from familial ANE, whereas the female sibling was asymptomatic.
These 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.
急性坏死性脑病（ANE）是一种特定类型的脑病，通常在发热感染后发生。它具有侵袭性的临床病程；然而，在自发性 ANE 情况下，通常不会在恢复后再次发生。尽管如此，有几项研究报告了 RAN 结合蛋白 2（RANBP2）突变的家族性 ANE 复发。亚洲人群中家族性 ANE 伴 RANBP2 突变的病例较少。
一名 21 个月大的韩国男孩，既往健康，在副流感病毒和 bocavirus 感染后出现癫痫发作，随后在发热性呼吸道疾病后出现 2 次复发性癫痫发作和脑炎。与此同时，他 3 岁的妹妹在因头部外伤就诊时神经影像学检查显示有局灶性脑病变。这对兄弟姐妹还有一个哥哥，他在 10 个月大时因发热性呼吸道疾病出现癫痫持续状态。
为了评估癫痫发作和神经系统症状，进行了脑部磁共振成像检查。影像学表现显示出不同的谱-从非特异性弥漫性白质损伤模式到扩散加权图像上典型的“三色模式”的 ANE。另外 2 个兄弟姐妹表现为外囊的局灶性病变和严重弥漫性脑肿胀。基因测试在 2 个兄弟姐妹及其母亲中发现了 RANBP2 [c.1754C>T (p.Thr585Met)]的杂合错义突变。
患者接受了抗惊厥药物、血管内免疫球蛋白和类固醇的保守治疗。
在这 3 个兄弟姐妹中，2 个男性兄弟姐妹死于家族性 ANE，而女性兄弟姐妹无症状。
这些病例强调了在 3 个家族成员中 RANBP2 基因不完全外显的家族性 ANE 的放射学表现，在磁共振图像上显示出不同的脑受累和自然病史。放射科医生应注意家族性 ANE 的典型和非典型影像学表现，以便及时管理受影响的患者。
