López-Laso E, Mateos-González M E, Pérez-Navero J L, Camino-León R, Briones P, Neilson D E
Servicio de Pediatría, Hospital Universitario Reina Sofía, Córdoba, España.
An Pediatr (Barc). 2009 Sep;71(3):235-9. doi: 10.1016/j.anpedi.2009.05.020. Epub 2009 Jul 29.
Acute necrotizing encephalopathy (ANE) presents in children after common viral infections. Most cases of ANE are non-familial and non-recurrent and have been mainly reported in Asian patients, although ANE affects children worldwide. Recently, missense mutations in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2) have been found in several families with familial or recurrent cases of ANE. We describe a Spanish family with familial and recurrent ANE without mutations in RANBP2. Mutations in RANBP2 are not the sole susceptibility alleles for familial or recurrent ANE.
急性坏死性脑病（ANE）常见于儿童病毒感染后。虽然ANE在全球范围内影响儿童，但大多数ANE病例为非家族性且非复发性，主要报道于亚洲患者。最近，在一些有家族性或复发性ANE病例的家族中发现了编码核孔蛋白Ran结合蛋白2（RANBP2）的基因错义突变。我们描述了一个西班牙家族，其患有家族性和复发性ANE，但RANBP2没有突变。RANBP2突变并非家族性或复发性ANE的唯一易感等位基因。
