Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities
Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities
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DOI：
10.1007/s12311-015-0699-z
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发表时间：
2016-02-01
期刊：
影响因子：
3.5
通讯作者：
Huisman, Thierry A. G. M.
中科院分区：
文献类型：
--
作者：
Poretti, Andrea;Boltshauser, Eugen;Huisman, Thierry A. G. M.
人类小脑的发育时间很长，这使得它容易受到各种发育障碍的影响，包括畸形和破坏。从妊娠19至20周开始，产前磁共振成像（MRI）可以可靠地研究发育中的小脑。产前和产后神经成像在先天性小脑异常的诊断检查中发挥着关键作用。小脑畸形和破坏的诊断标准主要基于神经影像学表现。Dandy-Walker畸形的诊断是基于小脑蚓部发育不全、抬高和逆时针向上旋转以及第四脑室囊性扩张，其向后延伸填充后颅窝。对于Joubert综合征的诊断，需要有臼齿征（增厚、伸长和水平取向的上级小脑脚和异常深的脚间窝）。菱脑突触的诊断标准包括小脑蚓部的完全或部分缺失以及小脑半球在中线上的连续性。单侧小脑发育不全是指一侧小脑半球完全发育不全或发育不全。熟悉这些诊断标准以及广泛的其他神经影像学检查结果对于产前和产后的正确诊断非常重要。正确的诊断对于受影响儿童及其家人的管理，预后和咨询至关重要。
The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malformations and disruptions. Starting from 19 to 20 weeks of gestation, prenatal magnetic resonance imaging (MRI) can reliably study the developing cerebellum. Pre- and postnatal neuroimaging plays a key role in the diagnostic work-up of congenital cerebellar abnormalities. Diagnostic criteria for cerebellar malformations and disruptions are based mostly on neuroimaging findings. The diagnosis of a Dandy-Walker malformation is based on the presence of hypoplasia, elevation, and counterclockwise upward rotation of the cerebellar vermis and cystic dilatation of the fourth ventricle, which extends posteriorly filling out the posterior fossa. For the diagnosis of Joubert syndrome, the presence of the molar tooth sign (thickened, elongated, and horizontally orientated superior cerebellar peduncles and an abnormally deep interpeduncular fossa) is needed. The diagnostic criteria of rhombencephalosynapsis include a complete or partial absence of the cerebellar vermis and continuity of the cerebellar hemispheres across the midline. Unilateral cerebellar hypoplasia is defined by the complete aplasia or hypoplasia of one cerebellar hemisphere. Familiarity with these diagnostic criteria as well as the broad spectrum of additional neuroimaging findings is important for a correct pre- and postnatal diagnosis. A correct diagnosis is essential for management, prognosis, and counseling of the affected children and their family.