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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >Medial Temporal Lobe Dysgenesis and More in a Man with Hypochondroplasia and Epilepsy
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Medial Temporal Lobe Dysgenesis and More in a Man with Hypochondroplasia and Epilepsy

机译：中间颞叶脱肿瘤患者和患有次闭动力学和癫痫的男人

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Hypochondroplasia, achondroplasia, and thanatophoric dysplasia are related at the molecular level, all caused by fibroblast growth factor receptor 3 (FGFR3) gene mutations. They differ in severity. FGFR3 has critical roles in fibroblast growth factor (FGF) signalling pathways during bone growth and cerebral cortical development. Mutations of the FGFR3 gene lead to constitutive activation of FGFR3. The well-described brain malformation in thanatophoric dysplasia is characterized by gross abnormalities of temporal lobe patterning and severe dysplasia of the hippocampus. Experimental models suggest that increased proliferation, abnormal migration, and decreased apoptosis are involved. However, reports of the brain findings in hypochondroplasia are based solely on radiologic imaging.We present the neuropathology of a 44 year-old man with hypochondroplasia, epilepsy, and significant intellectual disability. The temporal lobes are enlarged, prominent fissures traverse the inferior temporal surface, and the hippocampus is abnormally folded. Microscopically, the dentate gyrus is variably small or thin and is located near the edge of a gyrus. Ammon’s horn is displaced and meandering. Subicular-like clusters are profuse. Complex gyri resemble microgyria. White matter forms a subpial border in some gyri. In summary: medial temporal lobe dysgenesis.This individual also had many autistic features including stereotypies and head banging. The latter could explain another surprising set of brain abnormalities unrelated to the presumed FGFR3-related syndrome.
机译：闭孔转移，疼痛的动力学和梭肌腱发育不良在分子水平相关，所有由成纤维细胞生长因子受体3（FGFR3）基因突变引起。它们的严重程度不同。 FGFR3在骨生长和脑皮质发育期间的成纤维细胞生长因子（FGF）信号传导途径具有重要作用。 FGFR3基因的突变导致FGFR3的组成型活化。迄今为止的脑卒中发育不良的良好脑畸形的特征在于颞叶图案的总异常和海马的严重发育不良。实验模型表明增殖增加，异常迁移和凋亡减少。然而，次闭经表现出的脑发现的报告仅基于放射学成像。我们呈现了一个44岁男性的神经病理学，癫痫发作性，癫痫和显着的智力残疾。颞叶被扩大，突出的裂缝横穿较差的颞裂，并且海马异常折叠。微观地，牙齿的回形物是可变的小或薄的并且位于回射的边缘附近。 AMMON的号角是流离失所和蜿蜒的。亚特写群集是丰富的。复杂的吉尔类似微吉其。白质在一些吉利中形成了一个子页面边界。总之：内侧颞叶功能因子。本身也有许多自闭症特征，包括刻板型和头部撞击。后者可以解释与假定的FGFR3相关综合征无关的另一种令人惊讶的大脑异常。

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