单纯型遗传性痉挛性截瘫SPG6型中枢神经系统MRI表现

The MRI Appearance of Pure Hereditary Spastic Paraplegia (SPG6) in Central Nervous System

目的探讨单纯型遗传性痉挛性截瘫(purehereditary spastic paraplegia,PHSP)SPG6型患者的中枢神经系统MRI表现,提高对该病的认识。资料与方法分析一个家系6例PHSPSPG6型患者中枢神经系统的MRI表现,6例均行颅脑和脊髓MRI,分别测量C3、C7、T2、T4、T7脊椎水平脊髓前后径、横径和横断面积。另外选取60例在本院行颈椎和胸椎(各30例)MRI的患者作为对照组,测量方法同患者组,计算脊髓前后径、横径和横断面积的均值,并与患者组的均值进行比较。结果 6例中,5例颅脑MRI表现未见明显异常,1例表现为老年性脑改变;其颈髓及胸髓呈不同程度变细,灰白质均受累,蛛网膜下腔扩大;在变细明显的脊髓节段灰白质分界显示清楚,横轴位T2WI上灰质呈边界清楚、左右对称的点状或点片状高信号,矢状位上表现为连续纵行的条状高信号。6例患者的C3、C7、T2、T4脊椎水平的脊髓横断面积、前后径及横径明显小于对照组,二者之间的差异有统计学意义,T7脊椎水平的脊髓横断面积、前后径及横径与对照组之间的差异无统计学意义。结论 PHSPSPG6型患者的颅脑MRI表现可为正常。颈髓及上、中胸髓在MRI上表现为变细,灰白质分界清楚,下胸髓受累较轻,其MRI表现有一定的特征性。

Objective To explore the MRI appearance of PHSP SPG6 in the central nervous system and improve its diagnostic accuracy.Materials and Methods The clinical and imaging material of 6 patients in one family with PHSP SPG6 were collected,and all patients were examined with brain and spinal cord MRI.the AP diameter,transverse diameter and cross-sectional area of spinal cord at the levels of C3,C7,T2,T4 and T7 were measured.Simultaneously,we selected 60 normal controls matched for age and sex using MRI with the same measurement.Results All patients were normal on brain MRI besides one old man who appeared aged brain change.Different levels of spinal cord atrophy were found in every affected individual from this family,with involvement of the gray and white matter and expansion of the subarachnoid cavity.Spinal cord atrophy was more obviously in the cervical and upper,middle thoracic cord.In severe atrophic segments of spinal cord,a distinct gray and white matter boundary was observed.The lesions were presented as a clear boundary,median zygomorphic,increased spot or patch hyperintensity signal on axial T2WI,and continual longitudinal strip hyperintensity signal on the sagittal images.Statistically significant differences were found in anteroposterior diameters,transverse diameters and cross-sectional areas at the C3,C7,T2 and T4,levels compared to controls except T7 level.Conclusion Brain MRI features of patients with PHSP SPG6 may be normal,cervical and upper,middle thoracic cord appear marked atrophy wiith clear boundary of gray and white matter,which have some MRI characteristics.