Sztriha L, Várady E, Hertecant J, Nork M
Department of Pediatrics, UAE University, Al Ain, United Arab Emirates.
Neuropediatrics. 1998 Oct;29(5):272-5. doi: 10.1055/s-2007-973574.
An infant is described who had a combination of lobar holoprosencephaly and open-lip schizencephaly. Midline fusion of the basal ganglia was associated with bilateral absence of abundant parts of the brain mantle. Agenesis of the corpus callosum, hypoplasia of the optic nerves and chiasm, absence of the septum pellucidum, posterior pituitary and olfactory bulbs were further components of the malformation. Blindness, intractable seizures, spastic tetraplegia, somatomental retardation and diabetes insipidus were the main clinical features. A defect in the induction of the mediobasal part of the prosencephalon and failure of cell proliferation can be responsible for this complex malformation. Recent results of homeobox gene research relevant to the development of the prosencephalon are discussed.
本文描述了一名患有叶状全前脑畸形和开放性唇裂性脑裂畸形的婴儿。基底神经节的中线融合与双侧大脑皮质大量部分缺失有关。胼胝体发育不全、视神经和视交叉发育不全、透明隔、垂体后叶和嗅球缺失是该畸形的其他组成部分。失明、顽固性癫痫、痉挛性四肢瘫痪、躯体智力发育迟缓及尿崩症是主要临床特征。前脑中间基部诱导缺陷及细胞增殖失败可能是导致这种复杂畸形的原因。文中讨论了与前脑发育相关的同源盒基因研究的最新结果。
