Shah Christopher T, Ward Tyson S, Matsumoto Julie A, Shildkrot Yevgeniy
Department of Ophthalmology, University of Virginia, Charlottesville, Virginia.
Department of Radiology and Medical Imaging, University of Virginia, Charlottesville, Virginia.
J AAPOS. 2016 Feb;20(1):81-3. doi: 10.1016/j.jaapos.2015.10.007.
A 14-year-old boy presented with a presumed diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The neurological examination, nerve conduction study, and brain imaging results were all consistent with the diagnosis. The ophthalmologic examination was notable for a prominent myelinated nerve fiber layer extending from the disk along the major temporal arcades in both eyes. Loss of foveal depression was noted clinically and on spectral domain optical coherence tomography. This case highlights a novel finding that may aid in the diagnosis of ARSACS.
一名14岁男孩被初步诊断为常染色体隐性遗传性夏勒沃-萨格奈痉挛性共济失调（ARSACS）。神经学检查、神经传导研究和脑部成像结果均与该诊断相符。眼科检查发现，双眼均有从视盘沿主要颞侧弓延伸的明显髓鞘神经纤维层。临床检查和光谱域光学相干断层扫描均发现中央凹凹陷消失。该病例突出了一个可能有助于ARSACS诊断的新发现。
