目的 探讨伴岛叶三层现象（TA）的急性坏死性脑病（ANE）临床及遗传学特征。方法 回顾分析1个确诊为 ANE家系的临床资料。结果 先证者为男性，4.5岁时以惊厥、意识障碍起病，1岁时有热性惊厥史；头颅磁共振示对称性 多灶性损害，岛叶存在TA。家系中有6例患者，起病年龄6月龄至50岁，主要以发热后惊厥或惊厥持续状态及意识障碍起 病，3例因惊厥持续状态死亡；免疫治疗及能量支持可改善预后。基因检测发现家系RANBP2基因变异（NM_006267；c.1754 C>T[p.T 585 M]）。结论 首次报道TA可出现于岛叶。

Objective To investigate the clinical and genetic characteristics of acute necrotizing encephalopathy (ANE) with trilaminar appearance (TA) of insular. Methods The clinical data of patients from one family diagnosed with ANE were collected and analyzed. Results The proband was a boy; he started development of convulsion and disturbance of consciousness at the age of 4 . 5 years, and a history of febrile convulsion at the age of 1 year. Head MRI showed symmetrical multifocal lesions with TA in the insular lobe. There were 6 patients in the family with onset ages ranging from 6 months to 50 years. The main symptoms of the patients were convulsion after fever or status convulsions and disturbance of consciousness, and 3 patients died of status convulsions. Whole-exon sequencing analysis confirmed that the pathogenic gene was RANBP2 (NM_ 006267 ; c. 1754 C>T [p.T 585 M]). Immunotherapy and energy support could improve the prognosis. Conclusion This study reported for the first time that TA can appear in the insula.