Alkan Ozlem, Kizilkilic Osman, Yildirim Tulin
Department of Radiology, Medical School, Baskent University, Ankara, Turkey.
Cerebellum. 2009 Sep;8(3):355-65. doi: 10.1007/s12311-009-0104-x. Epub 2009 Apr 1.
We report the results of a retrospective analysis of radiological and clinical findings in 45 cases of midbrain-hindbrain anomalies and review recent advances in embryology and molecular neurogenetics. Among 45 patients with midbrain-hindbrain malformations, 16 cases of molar tooth malformation, 12 of cerebellar hypoplasia, ten of posterior fossa cyst and cerebellar vermian hypoplasia, three of rhombencephalosynapsis, two of Fukuyama congenital muscular dystrophy and two cases of isolated cerebellar dysplasia were identified. Twenty-six patients presented with motor-mental retardation, which was the most common clinical finding. Eleven patients were born to consanguineous parents. The correct diagnosis of cerebellar malformation is important for determining prognosis, the risk of recurrence and the need for genetic counselling. Integrated classification of malformations based on morphology, embryology and molecular neurogenetics may be useful.
我们报告了对45例中脑-后脑异常的放射学和临床发现进行回顾性分析的结果，并综述了胚胎学和分子神经遗传学的最新进展。在45例中脑-后脑畸形患者中，确诊为16例磨牙症畸形、12例小脑发育不全、10例后颅窝囊肿和小脑蚓部发育不全、3例菱形脑融合、2例福山型先天性肌营养不良以及2例孤立性小脑发育异常。26例患者表现出运动-智力发育迟缓，这是最常见的临床发现。11例患者的父母为近亲结婚。正确诊断小脑畸形对于确定预后、复发风险以及遗传咨询需求至关重要。基于形态学、胚胎学和分子神经遗传学的畸形综合分类可能会有所帮助。
