Deep Feature–Based Detection of Chiari Malformation Type I from Sagittal T2-Weighted MRI Using a Hybrid CNN–Machine Learning Framework
Objective: Chiari Type I Malformation (CM1) is a structural abnormality of the hindbrain that can cause a range of neurological symptoms and often requires radiological confirmation using magnetic resonance imaging (MRI). The aim of this study was to develop and evaluate a deep feature-based machine learning framework for the automated detection of CM1 from sagittal MRI images. Materials and Methods: The cohort comprised 550 adults: 250 patients with CM1 (168 women, 82 men; age range, 18–65 years) and 300 healthy control participants (210 women, 90 men; age range, 18–65 years). A total of 764 T2-weighted sagittal MR images (384 CM1, 380 healthy) acquired from two different 1.5T MRI scanners (Siemens Magnetom Altea and Symphony) between 2020 and 2024 were retrospectively analyzed. Deep features were extracted using ResNet-50 and MobileNetV2 architectures and subsequently classified using Support Vector Machines (SVM), Logistic Regression (LR), Random Forest (RF), XGBoost, and voting-based ensemble models. Model performance was assessed through patient-level 5-fold cross-validation using accuracy, sensitivity, specificity, F1-score, PPV, NPV, and AUC metrics. Code and trained models are available from the corresponding author upon reasonable request; imaging data are not publicly available due to patient privacy and institutional restrictions. Results: Across patient-level five-fold cross-validation, models built on ResNet-50 deep features demonstrated extremely high and stable diagnostic performance. The final soft-voting ensemble classifier based on ResNet-50 achieved perfect mean performance, with accuracy, balanced accuracy, sensitivity, specificity, F1-score, and AUC all equal to 1.000 ± 0.000 across folds. Other ResNet-based classifiers also achieved near-perfect results. MobileNetV2-based models also demonstrated strong performance but showed slightly lower stability compared with ResNet-based models, with mean accuracies ranging from 0.984 to 0.993 and mean AUC values between 0.99947 and 0.99984 across classifiers. Conclusions: The proposed deep feature-based machine learning framework demonstrated excellent performance for the automated detection of Chiari Type I Malformation from sagittal MRI images. In particular, the ResNet-50–based soft-voting ensemble model achieved perfect classification performance in cross-validation testing, suggesting that deep feature representations combined with machine learning classifiers may serve as a promising computer-aided diagnostic tool for supporting radiological evaluation of CM1.