Diagnostic approach to childhood-onset cerebellar atrophy: retrospective study of 111 patients
ZHAO Fei1, XIAO Jiang-xi2, XIE Sheng3
1. Department of Imaging, Aerospace Central Hospital, Beijing 100049, China;
2. Peking University First Hospital, Beijing 100034, China; 3. China-Japan Friendship Hospital, Beijing 100029, China
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.
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