Smith Garrett, Bell Stephanie K, Sladky John T, Kang Peter B, Albayram Mehmet S
Department of Radiology, University of Florida College of Medicine, 1600 SW Archer Road, Gainesville, FL 32610, USA.
Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, 1600 SW Archer Road, Gainesville, FL 32610, USA.
Clin Imaging. 2019 Jan-Feb;53:134-137. doi: 10.1016/j.clinimag.2018.09.017. Epub 2018 Oct 5.
Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. Ventral spinal root atrophy is a consistent pathological finding in post-mortem examinations of patients who suffered from various subtypes of spinal muscular atrophy; however, corresponding radiographic findings have not been previously reported. We present a patient with hypotonia and weakness who was found to have ventral spinal root atrophy in the lumbosacral region on MRI and was subsequently diagnosed with spinal muscular atrophy. More systematic analyses of imaging studies in spinal muscular atrophy will help determine whether such findings have the potential to serve as reliable diagnostic markers for clinical evaluations or as outcome measure for clinical trials.
脊髓性肌萎缩症是罕见的遗传性疾病，最常见的病因是SMN1基因的纯合缺失突变，该突变会导致前角细胞进行性神经变性。腹侧脊髓神经根萎缩是各种脊髓性肌萎缩症亚型患者尸检中的一致病理发现；然而，此前尚未有相应的影像学报告。我们报告一例肌张力减退和肌无力患者，其MRI检查发现腰骶部腹侧脊髓神经根萎缩，随后被诊断为脊髓性肌萎缩症。对脊髓性肌萎缩症影像学研究进行更系统的分析，将有助于确定这些发现是否有可能作为临床评估的可靠诊断标志物或临床试验的疗效指标。
