Sell Katharina, Storch Katja, Hahn Gabriele, Lee-Kirsch Min Ae, Ramantani Georgia, Jackson Sandra, Neilson Derek, von der Hagen Maja, Hehr Ute, Smitka Martin
Klinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26.
Acute necrotizing encephalopathy (ANE) is a rare disease presenting with rapidly progressing encephalopathy. It usually occurs in otherwise healthy children after common viral infections. The hallmarks of ANE are the neuroradiological findings of multiple symmetric lesions in the thalami, midbrain, pons and brainstem. Most cases are sporadic and non recurrent. However, recurrent or familial forms of ANE due to mutations in RANBP2 gene have been reported. It has been suggested to give these cases the term ANE1. We report the clinical course in two male infants (P1, P2) with ANE1 and a variable clinical course and outcome. One patient is heterozygous for the most common RANBP2 missense mutation p.Thr585Met. In the other patient we observed a novel de novo missense mutation p.Trp681Cys in the RANBP2 gene causing recurrent ANE. Clinical and radiological features are presented and differential diagnoses are discussed. This report adds to the current knowledge of the phenotype in ANE, caused by mutations in RANBP2 gene.
急性坏死性脑病（ANE）是一种罕见疾病，表现为快速进展的脑病。它通常发生在原本健康的儿童在常见病毒感染之后。ANE的特征是丘脑、中脑、脑桥和脑干出现多个对称病变的神经放射学表现。大多数病例为散发性且非复发性。然而，已经报道了由于RANBP2基因突变导致的复发性或家族性ANE形式。有人建议将这些病例称为ANE1。我们报告了两名患有ANE1的男婴（P1、P2）的临床病程以及不同的临床病程和结局。一名患者是最常见的RANBP2错义突变p.Thr585Met的杂合子。在另一名患者中，我们在RANBP2基因中观察到一个新的新发错义突变p.Trp681Cys，导致复发性ANE。本文呈现了临床和放射学特征并讨论了鉴别诊断。本报告增加了目前对由RANBP2基因突变引起的ANE表型的认识。
