MRI IN COCKAYNE SYNDROME TYPE-I
MRI IN COCKAYNE SYNDROME TYPE-I
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DOI：
10.1007/bf00344359
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发表时间：
1989-01-01
期刊：
影响因子：
2.8
通讯作者：
VALAVANIS, A
中科院分区：
文献类型：
--
作者：
BOLTSHAUSER, E;YALCINKAYA, C;VALAVANIS, A
本文报告两例柯凯因综合征（CS） I型患者的MRI表现，年龄分别为11岁和37岁。这些变化与弥漫性白质髓鞘化相一致。两例患者均有基底神经节钙化，老年患者小脑萎缩明显。在适当的临床背景下，MRI可以支持CS的诊断。CS是一种髓鞘异常疾病的观点得到了进一步的证实。
MRI findings are reported from two patients with Cockayne syndrome (CS) type I, aged 11 and 37 years. Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient. MRI may support the diagnosis of CS in the appropriate clinical context. The view that CS is a dysmyelinating disorder is further substantiated.