Article Figures & Data
Figures
- Fig 1.
A, Serial MR imaging at 5 months (top row), at 6 years 5 months (middle row), and 6 years 11 months (bottom row). Initial MR imaging shows a thinned corpus callosum and a mild enlargement of the IV ventricle. Follow-up MR imaging shows a severe cerebellar atrophy, the cerebrum appears unaffected. Final MR imaging shows a marked cerebral cortical atrophy. Cerebellar atrophy remains constant.
B, Serial T1-SE, T2-FSE, isotropic DWI, and ADC images at 6 years 5 months (upper row) and 6 years 11 months (bottom row). At 6 years 5 months, a significant restricted diffusion is seen within the fronto-parieto-temporal cortex, including lateral basal ganglia. The occipital cortex and thalami appear spared. At 6 years 11 months, a corresponding tissue and volume loss are seen of the cortex and lateral basal ganglia. The occipital cortex remains spared.
- Fig 2.
A, Quantitative 1H-MR spectroscopy of the left parietal white matter at 6 years 5 months (upper spectrum) and 6 years 11 months (lower spectrum). Significant reduction of the NAA peak (at 2 ppm) at both time points. The double lactate peak (at 1.3 ppm) reduces on follow up. Cho and Cr peaks are normal in both serial spectra.
B, Quantitative 1H-MR spectroscopy of the left basal ganglia at 6 years 5 months (upper spectrum) and 6 years 11 months (lower spectrum). The NAA peak (at 2 ppm) is reduced on both spectra. Cho and Cr peaks are within normal limits. A discrete amount of lactate (at 1.3 ppm) is seen on both serial spectra.
Tables
2nd MR Imaging 3rd MR Imaging Normative White matter NAA 1.77 2.13 6.9 ± 0.6 Cr 4.81 4.81 4.9 ± 0.4 Cho 1.87 1.83 1.6 ± 0.3 Gray matter NAA 4.73 5.02 8.3 ± 0.8 Cr 6.97 6.53 7.6 ± 0.6 Cho 1.85 2.46 1.9 ± 0.2 Note:—NAA indicates N-acetylaspartate; Cr, creatine; Cho, choline. Metabolite concentrations are μmol/L. NAA concentrations are significantly reduced in the white and central gray matter; Cho and Cr concentrations are normal. Normative age-matched regional values were derived from Pouwels et al.11
- Table 2:
Apparent diffusion coefficient (ADC) values at 6 years 5 months and 6 years 11 months of age
2nd MR Imaging 3rd MR Imaging Normative Frontal 0.780 0.930 1.02 ± 0.07 Parietal 0.830 0.960 1.01 ± 0.06 Occipital 0.885 0.880 1.01 ± 0.14 Internal capsule 0.590 0.750 0.77 ± 0.04 Putamen 0.420 0.650 0.82 ± 0.08 Note:—ADC values are ×10−3 mm2/s. Initial diffusion tensor imaging revealed a significant reduction of the ADC values within the frontal white matter, internal capsule, and putamen, as well as a mild reduction within the parietal white matter. On follow-up, the ADC values recovered were within normal limits. Normative age-matched regional values were derived from Schneider et al.12
