小头型原始侏儒症的中枢神经系统:Seckel或Seckel样综合征是否存在特征性的发育性脑病理?

H. Schmitt, C. Sergi
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引用次数: 3

摘要

尽管有70多例Seckel综合征(SS)或Seckel样原始小头畸形侏儒症的报道,但关于SS中枢神经系统病理调查的报道仍然很少。在这里,我们评论了一个家族性Seckel样小头畸形侏儒症的大脑神经病理学检查。6胎3期男胎妊娠19周经产前超声检查因严重小头畸形和宫内发育迟缓而流产,孕母有两个健康的姐妹。在两个流产胎儿和一个已故的兄弟姐妹中,死者也表现出塞克尔样表型,以及MRI扫描显示的小头畸形、胼胝体发育不全和厚脑回。对被试大脑的神经病理学检查显示了两类主要的变化:(1)端脑中线结构缺陷(尖脑畸形以及胼胝体、间隔、形成体和海马发育不全),以及(2)迁移功能障碍(小头畸形,端脑和斜脑都缺乏皮质神经母细胞,前者也有异位)。这些发现与少数神经病理学和神经放射学文献报道的结果一致,表明似乎存在SS‐样的原始小头畸形侏儒症和一种特征性的,尽管不是特异性的脑病理学,但可以用中度遗传性小头畸形的名称来充分概括。讨论了SS作为中枢神经系统发育不良基础的遗传背景。
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The central nervous system in microcephalic primordial dwarfism: Is there a characteristic developmental brain pathology in Seckel or Seckel‐like syndrome?
ABSTRACT In spite of the description of more than 70 cases of Seckel syndrome (SS) or Seckel‐like primordial microcephalic dwarfism, reports about investigations into the central nervous system pathology in SS remaind infrequent Here we comment on the thorough neuropathological examination of the brain in a familial case of Seckel‐like microcephalic dwarfism. The male fetus of a 6 gravida, 3 para was aborted at 19 weeks of gestation after prenatal ultrasound examination with the demonstration of severe microcephaly and retarded intrauterine development The propositus had two healthy sisters. Of two aborted fetuses and one deceased sibling, the deceased had also exhibited a Seckel‐like phenotype as well as, in MRI scans, micrencephaly, callosal agenesis and pachygyria. Neuropathological examination of the brain in the propositus resulted in the demonstration of two main categories of changes: (1) defective telencephalic midline structures (arhinencephaly as well as callosal, septal, fornical, and hippocampal agenesis), and (2) impairment of migration (micrencephaly with lack of cortical neuroblasts in both the telencephalon and the rhombencephalon as well as heterotopias in the former). These findings corresponded with those described in the few neuropathological and neuroradiological literature reports, indicating that there appears to be in SS‐like primordial microcephalic dwarfism and a characteristic, although not specific brain pathology which might be adequately summarized by the designation mediodysgenetic micrencephaly. The genetic background of SS as a basis for the CNS maldevelopment is discussed.
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