Bodensteiner J B, Schaefer G B, Keller G M, Thompson J N, Bowen M K
Department of Neurology and Pediatrics, West Virginia University, Morgantown, USA.
J Child Neurol. 1997 Sep;12(6):365-8. doi: 10.1177/088307389701200605.
Other than hamartomatous enlargement of the cerebellum as in Lhermitte-Duclos syndrome, diffuse enlargement of the cerebellum is not clearly described. We report four patients (ages 9 months to 2 years) with diffusely enlarged cerebelli as identified by measurement of the cerebellum and comparison to age appropriate normal values. The cerebellar measurements were determined in absolute numbers and expressed as ratios of cerebellum to whole brain and supratentorial brain. The clinical features of these four children (3 boys, 1 girl) consistently include global developmental delay, tone abnormalities, preserved reflexes, delayed or abnormal maturation of the visual system (oculomotor apraxia), and deficient or delayed myelination of cerebral white matter. The etiology of the macrocerebellum is unknown but we propose that the cerebellum is responding to the elaboration of growth factors intended to augment the slow development of cerebral structures. Regardless of the etiology, the finding of a macrocerebellum appears to allow the clinician to predict the clinical features of the patient and probably represents a marker for disturbed cerebral development.
除了像Lhermitte-Duclos综合征那样小脑错构瘤样增大外，小脑弥漫性增大尚无明确描述。我们报告了4例（年龄9个月至2岁）小脑弥漫性增大的患儿，通过测量小脑并与相应年龄的正常值进行比较得以确诊。小脑测量值以绝对值表示，并以小脑与全脑及幕上脑的比值表示。这4名儿童（3名男孩，1名女孩）的临床特征始终包括全面发育迟缓、肌张力异常、反射保留、视觉系统（眼球运动失用）成熟延迟或异常，以及脑白质髓鞘形成不足或延迟。小脑增大的病因尚不清楚，但我们推测小脑是对旨在促进脑结构缓慢发育的生长因子的一种反应。无论病因如何，小脑增大这一发现似乎能让临床医生预测患者的临床特征，并且可能代表了脑发育紊乱的一个标志。
