Tavasoli Ali, Armangue Thais, Ho Cheng-Ying, Whitehead Matthew, Bornhorst Miriam, Rhee Jullie, Hwang Eugene I, Wells Elizabeth M, Packer Roger, van der Knaap Marjo S, Bugiani Marianna, Vanderver Adeline
1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.
2 Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
J Child Neurol. 2017 Feb;32(2):184-187. doi: 10.1177/0883073816673263. Epub 2016 Oct 10.
Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and structural changes to the basal ganglia/thalamus. In rare cases, focal lesions have been seen and cause concern for primary malignancies. Here the authors present an infant initially diagnosed with a chiasmatic astrocytoma that was later identified as having glial fibrillary acidic protein mutation-confirmed Alexander disease. Pathologic and radiologic considerations that were helpful in arriving at the correct diagnosis are discussed.
亚历山大病是一种脑白质营养不良，由编码胶质纤维酸性蛋白的基因中的显性错义突变引起。患有这种疾病的个体通常呈现出典型的神经放射学模式，包括伴有脑干受累的白质异常、选择性对比增强以及基底神经节/丘脑的结构变化。在罕见情况下，会出现局灶性病变，这引起了对原发性恶性肿瘤的担忧。本文作者报告了一名最初被诊断为视交叉星形细胞瘤的婴儿，后来被确定患有胶质纤维酸性蛋白突变确诊的亚历山大病。文中讨论了有助于做出正确诊断的病理和放射学因素。
