儿童小脑萎缩的影像学诊断路径：111例患者回顾分析

赵  飞1; 肖江喜2; 谢  晟3

中国临床医学影像杂志 ›› 2018, Vol. 29 ›› Issue (6) : 381-386.

中枢神经影像学

赵飞1，肖江喜2，谢晟3

作者信息 +

Diagnostic approach to childhood-onset cerebellar atrophy: retrospective study of 111 patients

ZHAO Fei1, XIAO Jiang-xi2, XIE Sheng3

Author information +

文章历史 +

摘要

目的：探究伴发儿童小脑萎缩疾病的影像学诊断路径。方法：对111例（男62例，女49例）小脑萎缩患者的MRI进行回顾分析。依据MRI表现对疾病进行聚类分析。结果：在76例确诊病例中线粒体疾病最常见，其次是神经轴索营养不良和神经元蜡样脂褐质沉积症。聚类分析结果：①类集1，主要包括线粒体疾病；②类集2，主要包括INAD和NCL；③类集3，主要包括肝豆状核变性；④类集4，主要包括Cockayne综合征；⑤类集5，主要包括ALD、MLD、Menkes氏稔毛综合征；⑥类集6，其他疾病。结论：影像学与临床资料相结合，可以为儿童期伴发小脑萎缩疾病制定一个诊断路径；神经影像学模型在疾病鉴别诊断及指引进一步检查上起着至关重要的作用。

Abstract

Objective: To propose a neuroradiological diagnostic approach for childhood-onset cerebellar atrophy. Method: MR images of 111 patients with cerebellar atrophy were analyzed(62 males, 49 females). Hierarchical clustering of patients on the basis of their MRI item profile was performed. Result: Diagnosis was established in 76 patients. Mitochondrial diseases were the most common, followed by NCL and INAD. Hierarchical clustering result showed Cluster 1 mainly contained mitochondrial diseases, Cluster 2 mainly included INAD and NCL, Cluster 3 mainly included wilson disease, Cluster 4 mainly included Cockayne syndrome and Cluster 5 mainly includied ALD, MLD and Menks disease. Other diseases were comprised in Cluster 6. Conclusion: The diagnostic approach to childhood-onset cerebellar atrophy requires integration of neuroimaging results with clinical information. The use of neuroimaging pattern recognition is extremely useful in differential diagnoses and in the selection of further investigations.

导出引用

赵飞1，肖江喜2，谢晟3. 儿童小脑萎缩的影像学诊断路径：111例患者回顾分析[J]. 中国临床医学影像杂志. 2018, 29(6): 381-386

ZHAO Fei1, XIAO Jiang-xi2, XIE Sheng3. Diagnostic approach to childhood-onset cerebellar atrophy: retrospective study of 111 patients[J]. Journal of China Clinic Medical Imaging. 2018, 29(6): 381-386

中图分类号： Ｒ742.82 Ｒ445.2

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