MRI findings in 5 patients with CDG-1a

Age at first MRI12 days5 months2 years7 months9 months
Age at second MRI11 monthsNA16 years2 years3 years
Cerebellar volume loss at presentationMildSevereSevereModerateMild
Progressive cerebellar atrophy on follow-upYesNAYesYesYes
Cerebellar T2/FLAIR hyperintensityYesYesYesYesYes
Small ponsYes (only on follow-up)YesYes (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 × 19NANA19 × 27 (second MRI)
Supratentorial involvementDelayed WM myelination, ventriculomegalyNoCortical atrophy, WM atrophy and gliosis, ventriculomegalyNoNo
DWI findings, cerebellum (s/mm2)↑ADC 1.589 (first MRI) 1.665 (second MRI)↑ADC 1.238NANA↑ADC 1.032 (second MRI)
1H-MRS findings (cerebellum)NAQuality 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.