MRI findings in 5 patients with CDG-1a
| Patients | 1 | 2 | 3 | 4 | 5 |
|---|---|---|---|---|---|
| Gender | M | F | M | M | F |
| Age at first MRI | 12 days | 5 months | 2 years | 7 months | 9 months |
| Age at second MRI | 11 months | NA | 16 years | 2 years | 3 years |
| Cerebellar volume loss at presentation | Mild | Severe | Severe | Moderate | Mild |
| Progressive cerebellar atrophy on follow-up | Yes | NA | Yes | Yes | Yes |
| Cerebellar T2/FLAIR hyperintensity | Yes | Yes | Yes | Yes | Yes |
| Small pons | Yes (only on follow-up) | Yes | Yes (progressive on follow-up) | Yes (progressive on follow-up) | No |
| Pons size, sagittal x coronal (mm × mm) | 13 × 19 (first MRI) 12 × 19 (second MRI) | 13 × 19 | NA | NA | 19 × 27 (second MRI) |
| Supratentorial involvement | Delayed WM myelination, ventriculomegaly | No | Cortical atrophy, WM atrophy and gliosis, ventriculomegaly | No | No |
| DWI findings, cerebellum (s/mm2) | ↑ADC 1.589 (first MRI) 1.665 (second MRI) | ↑ADC 1.238 | NA | NA | ↑ADC 1.032 (second MRI) |
| 1H-MRS findings (cerebellum) | NA | Quality insufficient | ↓NAA/Cr | ↑mI/Cr ↑sI/Cr ↓Cho/Cr ↓NAA/Cr ↑αGlx | ↑mI/Cr ↓Cho/Cr ↓NAA/Cr |
Note:—αGlx: alpha-glutamine/glutamate complex; NA, not available.