Table 2
Magnetic resonance imaging findings in the patients
| Patient 1 | Patient 2 | Patient 5 | Patient 6 | |
|---|---|---|---|---|
| C, cerebellar; PV, periventricular. | ||||
| Age at imaging (years) | 11 | 10 | 5 | 16 |
| White matter abnormality | Anterior–posterior PV, C | Anterior–posterior PV, C | Minimal C | Anterior–posterior PV, C |
| Subcortical white matter abnormality | + | – | – | – |
| Brainstem involvement | + | – | – | + |
| Cerebellar atrophy | + | – | – | + |
| Posterior crus of the internal capsule | + | + | – | + |
| Thalamic involvement | – | – | – | + |
| Cavum septi pellucidi et vergae | + | + | + | + |
| Basal ganglia abnormality | – | – | – | – |
