Hayashi M, Sakamoto K, Kurata K, Nagata J, Satoh J, Morimatsu Y
Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Japan.
Acta Neuropathol. 1996 Dec;92(6):625-30. doi: 10.1007/s004010050571.
Little is known about the neuropathology of Cornelia de Lange syndrome. We report a unique type of cerebral malformation combined with Cornelia de Lange syndrome in a 5-year-old female child. At autopsy, the optic systems, hypothalamic nuclei, corpus callosum and cerebellar vermis were hypoplastic, and the septum pellucidum, fornix and anterior commissure were rudimentary. The brain had malformative features of septo-optic dysplasia combined with commissural dysplasia and cerebellar vermian hypoplasia. This case suggests an interrelationship between Cornelia de Lange syndrome and midline development of the brain.
关于科妮莉亚·德朗热综合征的神经病理学知之甚少。我们报告了一名5岁女童，其患有独特类型的脑畸形并伴有科妮莉亚·德朗热综合征。尸检时发现，视觉系统、下丘脑核、胼胝体和小脑蚓部发育不全，透明隔、穹窿和前连合发育不良。该大脑具有视隔发育不良合并连合发育不良及小脑蚓部发育不全的畸形特征。此病例提示科妮莉亚·德朗热综合征与大脑中线发育之间存在相互关系。
