Clinical details of presented cases
| Infant | Age at Onset (mo) | Sex | Family History | Disease Duration (Survival) | Neuroimaging Performed | Other Tests |
|---|---|---|---|---|---|---|
| 1 | 7 | F | Negative | 2 months | MRI | None |
| 2 | 11 | F | Negative | 9 days | CT, MRI | Postmortem |
| 3a | 5 | F | Negative | 5 months | CT, MRI | None |
| 4 | 8 | M | Negative | 6 months | CT, MRI, MRS | DNA |
| 5a | 8 | F | Positive | 12 days | CT, MRI, MRS | DNA |
a Denotes siblings.