Ramaekers V T, Heimann G, Reul J, Thron A, Jaeken J
Division of Paediatric Neurology, University Hospital Aachen, Germany.
Brain. 1997 Oct;120 ( Pt 10):1739-51. doi: 10.1093/brain/120.10.1739.
Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine pontocerebellar hypoplasia, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy. Known genetic conditions did not occur with unilateral cerebellar involvement, whereas a high incidence of mostly autosomal recessively inherited diseases could be diagnosed in more than half of the patients with either pontocerebellar hypoplasia or progressive bilateral cerebellar atrophy. A minority of patients with vermis defects or non-progressive cerebellar hypoplasia suffered from genetic conditions. An overview of the literature is presented describing genetic and non-genetic syndromes, or metabolic disorders associated with cerebellar structural abnormalities. From these data, new proposals for improved diagnostic investigations will be presented.
在78例经神经影像学检查（CT和/或MRI）显示单侧或双侧（脑桥）小脑发育不全、萎缩或病变的患者中，16例表现为单侧发育不全或病变，15例为蚓部缺损，9例为脑桥小脑发育不全，10例为双侧小脑半球发育不全或病变的非进行性疾病，28例为进行性小脑萎缩。已知的遗传疾病在单侧小脑受累时未出现，而在超过半数的脑桥小脑发育不全或进行性双侧小脑萎缩患者中可诊断出大多为常染色体隐性遗传疾病的高发病率。少数蚓部缺损或非进行性小脑发育不全患者患有遗传疾病。本文提供了一份文献综述，描述了与小脑结构异常相关的遗传和非遗传综合征或代谢紊乱。根据这些数据，将提出改进诊断检查的新建议。
