Klein Jessica L, Lemmon Monica E, Northington Frances J, Boltshauser Eugen, Huisman Thierry A G M, Poretti Andrea
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Neurosciences Intensive Care Nursery Program, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Department of Pediatrics, Medical University of South Carolina, Charleston, SC USA.
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Neurosciences Intensive Care Nursery Program, The Johns Hopkins University School of Medicine, Baltimore, MD USA ; Division of Pediatric Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC USA.
Cerebellum Ataxias. 2016 Jan 13;3:1. doi: 10.1186/s40673-016-0039-1. eCollection 2016.
Cerebellar abnormalities are encountered in a high number of neurological diseases that present in the neonatal period. These disorders can be categorized broadly as inherited (e.g. malformations, inborn errors of metabolism) or acquired (e.g. hemorrhages, infections, stroke). In some disorders such as Dandy-Walker malformation or Joubert syndrome, the main abnormalities are located within the cerebellum and brainstem. In other disorders such as Krabbe disease or sulfite oxidase deficiency, the main abnormalities are found within the supratentorial brain, but the cerebellar involvement may be helpful for diagnostic purposes. In In this article, we review neurological disorders with onset in the neonatal period and cerebellar involvement with a focus on how characterization of cerebellar involvement can facilitate accurate diagnosis and improved accuracy of neuro-functional prognosis.
在大量新生儿期出现的神经系统疾病中会遇到小脑异常情况。这些疾病大致可分为遗传性（如畸形、先天性代谢缺陷）或后天性（如出血、感染、中风）。在某些疾病中，如丹迪 - 沃克畸形或乔伯特综合征，主要异常位于小脑和脑干。在其他疾病中，如克拉贝病或亚硫酸盐氧化酶缺乏症，主要异常位于幕上脑，但小脑受累情况可能有助于诊断。在本文中，我们回顾新生儿期起病且伴有小脑受累的神经系统疾病，重点关注小脑受累的特征如何有助于准确诊断并提高神经功能预后的准确性。
