Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
Pediatr Neurol. 2022 Jul;132:4-10. doi: 10.1016/j.pediatrneurol.2022.04.014. Epub 2022 May 5.
Cerebellar mutism syndrome (CMS), also known as posterior fossa syndrome, occurs in a subset of children after posterior fossa tumor resection, most commonly medulloblastoma. Patients with this syndrome exhibit often transient, although protracted, symptoms of language impairment, emotional lability, cerebellar, and brainstem dysfunction. However, many patients experience persistent neurological deficits and lasting neurocognitive impairment. Historically, research and clinical care were hindered by inconsistent nomenclature, poorly defined diagnostic criteria, and uncertainty surrounding risk factors and etiology. Proposed diagnostic criteria include two major symptoms, language impairment and emotional lability, as proposed by the international Board of the Posterior Fossa Society in their consensus statement as well as other experts in this field. Risk factors most commonly associated with development of CMS include midline tumor location, diagnosis of medulloblastoma and specific tumor subtype, younger age at diagnosis, and preoperative language impairment. A proposed etiology of CMS includes disruption of the cerebellar outflow tracts, the cerebellar nuclei, and their efferent projections through the superior cerebellar peduncle. Treatment for CMS remains supportive. Herein, we present a comprehensive overview of CMS etiology, diagnosis, risk factors, clinical presentation, and clinical management. In addition, we identify essential multidisciplinary research priorities to advance diagnostics, prevention, and intervention efforts for patients with, or at risk for, development of CMS.
小脑缄默症（CMS），又称后颅窝综合征，发生于后颅窝肿瘤切除术后的一部分儿童中，最常见于髓母细胞瘤。患有这种综合征的患者表现为语言障碍、情绪不稳定、小脑和脑干功能障碍等通常是短暂的，尽管是持久的症状。然而，许多患者经历持续的神经功能缺损和持久的神经认知障碍。从历史上看，由于命名不统一、诊断标准定义不明确以及对危险因素和病因的不确定性，研究和临床护理受到了阻碍。国际后颅窝学会董事会在其共识声明以及该领域的其他专家提出的诊断标准包括两个主要症状，即语言障碍和情绪不稳定。与 CMS 发展最常相关的危险因素包括肿瘤位于中线、诊断为髓母细胞瘤和特定的肿瘤亚型、诊断时年龄较小以及术前语言障碍。CMS 的一个提出的病因包括小脑传出束、小脑核及其通过上小脑脚的传出投射的中断。CMS 的治疗仍然是支持性的。在此，我们全面概述了 CMS 的病因、诊断、危险因素、临床表现和临床管理。此外，我们确定了重要的多学科研究重点，以推进对 CMS 患者或有发展 CMS 风险的患者的诊断、预防和干预工作。
