Autopsy case of thanatophoric dysplasia: Observations on the serial sections of the brain
Autopsy case of thanatophoric dysplasia: Observations on the serial sections of the brain
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致死性发育不良尸检病例：大脑连续切片观察
DOI：
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
K. Honma
中科院分区：
文献类型：
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作者：
K. Yamaguchi;K. Honma
本文报告一例致死性发育不良（TD）脑连续切片的尸检结果。该患者是一名女婴，在妊娠33周时出生，在第1天死亡。骨骼异常包括四肢短、胸部小、肋骨短、皮质椎体物质和胸骨物质厚以及肺发育不全，与TD的典型表型特征相符。大脑重370克，呈三叶草状巨脑畸形。计算机三维重建技术清晰显示了颞叶下表面垂直于神经轴排列的异常深沟，以及侧脑室的特殊构型变化。特别是，下角表现出一种不寻常的复杂形式。遗传异常变化主要位于前颞叶，如下：皮质多小回;软脑膜异位伴软膜下基底膜不连续;海马氨角（CA）1锥体细胞的蛇形排列;发育不全的齿状回;杏仁体增生;脑室周围白色物质中神经母细胞或胶质母细胞异位结节。除颞叶外，大脑软脑膜显示出不寻常的融合的两个面对片在沟和异位的神经细胞，小脑蚓部是小的。这里观察到的结果表明，过度生长和缺乏生长可以在TD脑中共存，这表明间充质和神经组织之间的一些相互作用可能在这两种细胞系的正常分化中发挥作用。
The neuropathological findings in an autopsy case of thanatophoric dysplasia (TD) with serial sections of the brain are described here. This patient was a female infant, born at 33 weeks gestation, who died on day 1. Skeletal anomalies, consisting of short limbs, a small thorax, short ribs, thick cortical vertebral body substance and sternum substance, and hypoplastic lungs, were compatible with typical phenotypic features of TD. The brain weighed 370 g, showing a cloverleaf megalencephaly. A computerized 3‐D reconstruction technique visualized clearly abnormal deep sulci arranged perpendicular to the neuraxis on the inferior surface of the temporal lobe, and peculiar configurational changes of the lateral ventricle. In particular, the inferior horn showed an unusual complex form. Dysgenetic changes were largely located in the anterior temporal lobe as follows: cortical polymicrogyria; leptomeningeal heterotopia with discontinuity of the subpial basement membrane; serpentine arrangement of pyramidal cells of the cornu ammonis (CA)1 of the hippocampus; hypoplastic dentate gyrus; hyperplasia of the amygdaloid body; and heterotopic nodules of neuroblasts or glioblasts in the periventricular white matter. Apart from the temporal lobe, the cerebral pia mater showed unusual fusion of two facing sheets in a sulcus and ectopia of nerve cells, and the cerebellar vermis was small. The findings observed here indicate that overgrowth and lack of growth can coexist in the TD brain, suggesting that some interaction(s) between the mesenchyme and the nervous tissue may play a role in normal differentiation of these two cell lines.
DOI：
10.1002/(sici)1096-8628(19980707)78:3
发表时间：
1998-07-07
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
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作者：
Wilcox, WR;Tavormina, PL;Rimoin, DL
通讯作者：
Rimoin, DL