Computed tomography in Pelizaeus-Merzbacher disease
Computed tomography in Pelizaeus-Merzbacher disease
复制标题
佩利扎乌斯-梅茨巴赫病的计算机断层扫描
DOI：
10.1007/bf00344782
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发表时间：
2004
期刊：
影响因子：
2.8
通讯作者：
H. Spiess
中科院分区：
文献类型：
--
作者：
A. Statz;E. Boltshauser;A. Schinzel;H. Spiess
本文报告两例典型X连锁隐性Pelizaeus-Merzbacher病(PMD)患者的CT表现。CT显示一位25岁的患者有明显的小脑萎缩和局限性的脑白质脱髓鞘。这与已知的神经病理改变是一致的。然而，14岁的侄子的CT是正常的，尽管他的神经症状几乎和他叔叔的一样严重。从这一观察和文献中的稀少信息来看，经典PMD的CT在最初十年似乎是正常的，因此对早期PMD的诊断没有帮助。
CT findings in two related males suffering from the classical X-linked recessive form of Pelizaeus-Merzbacher disease (PMD) are described. CT revealed marked cerebellar atrophy and focal areas of demyelination of cerebral white matter in a 25-year-old patient. This agrees with known neuropathological changes. However, CT was normal in the 14-year-old nephew, although his neurological symptoms were nearly as severe as his uncle's. Judging from this observation and from the scant information in the literature it seems that CT in classical PMD is normal in the first decade and is therefore not helpful in confirming the diagnosis of PMD at an early stage.