Limperopoulos Catherine, du Plessis Adré J
Neurology and Neurosurgery & School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada.
Curr Opin Pediatr. 2006 Dec;18(6):621-7. doi: 10.1097/MOP.0b013e32801080e8.
This review summarizes for the pediatrician the current understanding of normal cerebellar and brainstem development, and then discusses selected malformations to highlight advances in the area. The impact of prematurity on cerebellar growth and development is then examined. The important insights provided by recent neuroimaging and genetic advances are reviewed.
Previous areas of dispute are being addressed by advances in two major areas. Advanced neuroimaging studies during fetal and postnatal life are now providing important insights into the nature of normal and abnormal development of the brainstem and cerebellum. These powerful new techniques for defining morphology in vivo, together with major advances in genetics, are accelerating our understanding of genotype-phenotype relationships. Conversely, the ability to link early brain injury to subsequent cerebellar development has challenged previous understanding of the distinction between acquired and primary dysgenesis, presumed to be genetic in origin.
The synthesis of a rational and clinically useful classification of posterior fossa malformations has been elusive. Recent developments promise to resolve ongoing disputes that have delayed progress. However, these insights into disturbed structural development demand rigorous examination of their long-term functional significance and caution before their prognostic significance is applied clinically.
本综述向儿科医生总结了目前对正常小脑和脑干发育的认识，接着讨论了特定的畸形，以突出该领域的进展。随后研究了早产对小脑生长发育的影响。回顾了近期神经影像学和遗传学进展提供的重要见解。
两个主要领域的进展正在解决以前存在争议的领域。胎儿期和出生后先进的神经影像学研究现在为脑干和小脑正常与异常发育的本质提供了重要见解。这些用于在体内定义形态的强大新技术，连同遗传学的重大进展，正在加速我们对基因型 - 表型关系的理解。相反，将早期脑损伤与随后的小脑发育联系起来的能力对先前关于后天性和原发性发育异常（推测起源于遗传）之间区别的理解提出了挑战。
后颅窝畸形合理且临床有用的分类方法一直难以实现。近期的进展有望解决那些延误了进展的持续争议。然而，这些对结构发育紊乱的见解需要严格审视其长期功能意义，并且在临床应用其预后意义之前要谨慎。
