Abstract：
Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy-Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision. In this paper, we aim to re-evaluate the proposed association by reviewing the available literature and present a patient with CMN and a large posterior fossa cyst.
摘要：
先天性黑素细胞痣（CMN）综合征，以前称为神经皮肤黑变病，是一种罕见的疾病，由在黑素细胞前体的胚胎发生过程中发生的合子后镶嵌突变引起。CMN患者神经系统表现的严重程度与磁共振成像发现的中枢神经系统异常有关。CMN和Dandy-Walker畸形(DWM)之间的关联已经在文献中描述，但是影像学和遗传学的最新进展导致了诊断标准的修订。在本文中,我们的目标是通过回顾现有的文献并介绍一名患有CMN和大型后颅窝囊肿的患者,重新评估所提出的关联.
