van der Knaap M S, Valk J
Department of Child Neurology, University Hospital, Utrecht, The Netherlands.
AJNR Am J Neuroradiol. 1989 Jan-Feb;10(1):99-103.
Pelizaeus-Merzbacher disease is a rare disease of infants and young children in which there is an arrest of myelination of the CNS. The cause of the disorder is unknown. Three cases are reported, representing the connatal and classical forms of the disease. The MR images obtained of these children are compared with histologic findings as reported in the literature. In the connatal form a complete absence of myelin in the brain is demonstrated. In the classical form an arrest of myelination in an early stage of development is shown in combination with progressive abnormalities of the unmyelinated white matter and possibly a slow degradation of some myelin. MR imaging appears to be a unique diagnostic method for assessing the degree of hypomyelination, the core of Pelizaeus-Merzbacher disease, and for contributing to the understanding of the underlying pathology of this disorder.
佩利措伊斯-梅茨巴赫病是一种发生于婴幼儿的罕见疾病，其特征为中枢神经系统髓鞘形成停滞。该疾病的病因尚不清楚。本文报告了3例病例，分别代表了先天性和典型性佩利措伊斯-梅茨巴赫病。将这些患儿的磁共振成像（MR）图像与文献中报道的组织学结果进行了比较。在先天性病例中，大脑显示完全缺乏髓鞘。在典型性病例中，显示在发育早期髓鞘形成停滞，同时伴有未髓鞘化白质的进行性异常，并且可能存在部分髓鞘的缓慢降解。磁共振成像似乎是评估佩利措伊斯-梅茨巴赫病核心——髓鞘形成不足程度以及有助于理解该疾病潜在病理机制的独特诊断方法。
