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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.