Florell S R, Townsend J J, Klatt E C, Pysher T J, Coffin C M, Wittwer C T, Viskochil D H
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City 84132, USA.
Am J Med Genet. 1996 Jun 28;63(4):542-8. doi: 10.1002/(SICI)1096-8628(19960628)63:4<542::AID-AJMG6>3.0.CO;2-Q.
Aprosencephaly is a rare, lethal malformation sequence of the central nervous system that has been attributed to a postneuralation encephaloclastic process. We describe autopsy findings consistent with aprosencephaly in 2 fetuses conceived from a consanguineous mating (first cousins). Both showed anencephalic manifestations; however, the crania were intact, with fused sutures. The neuropathologic findings were essentially identical. Each fetus had complete absence of the telecephalon and pyramidal tracts, rudimentary diencephalic and mesencephalic structures, primitive cerebellar hemispheres, posterolateral clusters of primitive neural cells in the medullas suggesting an abnormality of neural migration, a normally-formed spinal cord, and retinal dysplasia within normally-formed globes. In addition, both fetuses manifested a peculiar perivascular mesenchymal proliferation seen only within the central nervous system. The similarity of these cases, coupled with parental consanguinity, suggests a primary malformation in brain development due to the homozygous representation of a mutant allele. We hypothesize that these patients may represent a defect in a gene important in brain development, the nature of which has yet to be elucidated.
无脑畸形是一种罕见的、致命的中枢神经系统畸形序列，其病因被认为是神经形成后发生的脑破坏过程。我们描述了2例近亲婚配（表亲）受孕胎儿尸检结果与无脑畸形相符的情况。二者均表现为无脑儿表现；然而，颅骨完整，缝线融合。神经病理学发现基本相同。每个胎儿均完全缺失端脑和锥体束，间脑和中脑结构发育不全，原始小脑半球，延髓中原始神经细胞的后外侧簇提示神经迁移异常，脊髓形态正常，眼球形态正常但存在视网膜发育异常。此外，两个胎儿均仅在中枢神经系统内表现出一种特殊的血管周围间充质增生。这些病例的相似性，再加上父母的近亲关系，提示由于突变等位基因的纯合表现导致脑发育的原发性畸形。我们推测这些患者可能存在一个对脑发育很重要的基因缺陷，其性质尚待阐明。
