Loevner L A, Shapiro R M, Grossman R I, Overhauser J, Kamholz J
Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia 19104, USA.
AJNR Am J Neuroradiol. 1996 Nov-Dec;17(10):1843-8.
To evaluate the MR findings in the central nervous systems of patients with deletions of the long arm of chromosome 18 (18q- syndrome).
Sixteen patients with 18q- syndrome ranging in age from 3 to 46 years (mean, 17 years) were studied with high-field-strength MR imaging. Images were analyzed for abnormal T2 hyperintensity in the white matter, abnormal T2 hypointensity in the deep gray matter, and atrophy.
Ten of 16 patients had abnormal white matter. Diffuse, bilaterally symmetric deep white matter T2 hyperintensity, most pronounced in the periventricular regions, was most common, noted in eight cases. Focal deep white matter lesions and/or abnormalities involving the subcortical white matter were also noted in four cases. The cerebellum, brain stem, and corpus callosum were spared. Ventriculomegally associated with volume loss, and abnormal T2 hypointensity in the basal ganglia and/or thalami were each present in 11 patients.
The 18q- syndrome is associated with white matter disease and abnormal T2 hypointensity in the deep gray matter. The basis for the white matter abnormalities is unknown, but may be related to one of the two genes for myelin basic protein included in the deleted segment of chromosome 18.
评估18号染色体长臂缺失（18q-综合征）患者中枢神经系统的磁共振成像（MR）表现。
对16例年龄在3至46岁（平均17岁）的18q-综合征患者进行高场强MR成像研究。分析图像中白质的异常T2高信号、深部灰质的异常T2低信号以及萎缩情况。
16例患者中有10例存在白质异常。弥漫性、双侧对称的深部白质T2高信号在脑室周围区域最为明显，最为常见，8例出现此情况。4例还发现局灶性深部白质病变和/或累及皮质下白质的异常。小脑、脑干和胼胝体未受累。11例患者均出现与体积缩小相关的脑室扩大，以及基底节和/或丘脑的异常T2低信号。
18q-综合征与白质疾病及深部灰质的异常T2低信号有关。白质异常的原因尚不清楚，但可能与18号染色体缺失片段中包含的髓鞘碱性蛋白的两个基因之一有关。
