Table 3.
Summary of the neuroimaging findings from the six patients performed at different ages
| Age | Case/MR number | Subcortical white matter (T2 hypertensity) | Thalamus (T2 hypertensity) | Brainstem (T2 hypertensity) | DWI hyperintensity | Restricted diffusion (ADC map) | Corpus callosum (thinning) | MRS (lactate peaks) |
|---|---|---|---|---|---|---|---|---|
| 8 m | P1/01 | + | – | – | NA | NA | Mild global; posterior predominance | NA |
| 1 y 8 m | P2/01 | ++ | + | + | Yes | Yes | Isthmus | NA |
| 3 y | P2/02 | +++ | +++ | +++ | Yes | No (facilitated diffusion) | Isthmus | NA |
| 3 y | P5/01 | +++ | +++ | +++ | Yes | NA | Isthmus | Yes |
| 5 y | P1/02 | +++ | ++ | ++ | Yes | NA | Mild global; posterior predominance | NA |
| 6 y | P5/02 | ++ | + | + | Yes | Yes | Isthmus | Yes |
| 7 y | P5/03 | + | + | + | Yes | Yes | Isthmus | NA |
| 9 y | P5/04 | – | – | – | No | No | Isthmus | No |
| 9 y | P1/03 | + | – | + | Yes | Yes | Mild global; posterior predominance | No |
| 10 y | P1/04 | – | – | + | No | No | Mild global; posterior predominance | No |
| Adult | P3/01 | + | – | – | No | No | Mild global; posterior predominance | No |
| Adult | P4/01 | – | – | – | No | No | Normal | NA |
| Adult | P6/01 | – | – | – | No | No | Normal | No |
ADC = apparent diffusion coefficient; DWI = diffusion-weighted image; MR = magnetic resonance; NA = not available. T2-hyperintensity changes were graded using a semiquantitative scale: absent (–); mild (+); moderate (++) and severe (+++).