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小脑半球部分中线融合伴垂直小叶:一种新的小脑畸形?

Partial midline fusion of the cerebellar hemispheres with vertical folia: a new cerebellar malformation?

作者信息

Takanashi J, Sugita K, Barkovich A J, Takano H, Kohno Y

机构信息

Department of Pediatrics, University of Chiba, Japan.

出版信息

AJNR Am J Neuroradiol. 1999 Jun-Jul;20(6):1151-3.

PMID:10445461
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7056222/
Abstract

MR imaging depicted vertically oriented folia instead of the normal horizontal folial pattern, hypoplastic cerebellar vermis, fusion of the inferior posterior cerebellum, and probable polymicrogyria in the superior cerebellar hemispheres in a child with hypotonia, nystagmus, ataxia, and psychomotor retardation. We propose that this newly discovered cerebellar malformation be added to the list of malformations associated with aplasia or hypoplasia of the cerebellar vermis, such as Dandy-Walker malformation, Joubert syndrome, tectocerebellar dysraphia, and rhombencephalosynapsis.

摘要

磁共振成像显示,一名患有肌张力减退、眼球震颤、共济失调和精神运动发育迟缓的儿童,其小脑叶呈垂直方向排列,而非正常的水平叶状模式,小脑蚓部发育不全,小脑后下部融合,小脑上半球可能存在多小脑回。我们建议将这种新发现的小脑畸形添加到与小脑蚓部发育不全或发育不良相关的畸形列表中,如丹迪-沃克畸形、儒贝尔综合征、顶盖小脑发育不全和菱形脑联合畸形。

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本文引用的文献

1
Rhombencephalosynapsis: cerebellar embryogenesis.菱脑融合:小脑胚胎发生
AJNR Am J Neuroradiol. 1998 Mar;19(3):547-9.
2
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.再探“乔伯特综合征”:关键眼球运动体征与磁共振成像的相关性
J Child Neurol. 1997 Oct;12(7):423-30. doi: 10.1177/088307389701200703.
3
Genetic disorders and cerebellar structural abnormalities in childhood.儿童期的遗传疾病和小脑结构异常
Brain. 1997 Oct;120 ( Pt 10):1739-51. doi: 10.1093/brain/120.10.1739.
4
Genetic analysis of cerebellar folial pattern in crosses of C57BL/6J and DBA/2J inbred mice.
Brain Res. 1993 Aug 13;619(1-2):81-8. doi: 10.1016/0006-8993(93)91598-m.
5
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions.福山型先天性肌营养不良的小脑磁共振成像:多小脑回伴囊性病变
AJNR Am J Neuroradiol. 1994 Oct;15(9):1755-9.
6
The cellular kinetics of the developing mouse cerebellum. II. The function of the external granular layer in the process of gyrification.发育中小鼠小脑的细胞动力学。II. 外颗粒层在脑回形成过程中的作用。
Brain Res. 1970 Oct 28;23(3):343-52. doi: 10.1016/0006-8993(70)90061-2.
7
Cerebellar foliation in rats. 1. Cortical changes preceding the formation of a fissure.
Acta Pathol Microbiol Immunol Scand A. 1985 Nov;93(6):385-9.
8
Destruction of meningeal cells over the newborn hamster cerebellum with 6-hydroxydopamine prevents foliation and lamination in the rostral cerebellum.用6-羟基多巴胺破坏新生仓鼠小脑上方的脑膜细胞会阻止小脑前部的叶片形成和分层。
Neuroscience. 1986 Feb;17(2):409-26. doi: 10.1016/0306-4522(86)90256-3.
9
MR imaging of rhombencephalosynapsis: report of three cases and review of the literature.菱脑融合的磁共振成像:三例报告并文献复习
AJNR Am J Neuroradiol. 1991 Sep-Oct;12(5):957-65.
10
Inverse cerebellum and occipital encephalocele. A dorsal fusion defect uniting the Arnold-Chiari and Dandy-Walker spectrum.小脑倒置与枕部脑膨出。一种将阿诺德-奇亚里畸形和丹迪-沃克综合征联系起来的背侧融合缺陷。
Neurology. 1977 Mar;27(3):246-51. doi: 10.1212/wnl.27.3.246.