Table 2.
- Presenting clinical and radiological features for all patients with tuberous sclerosis.
| No. | Gender | Age at diagnosis (months) | Presentation | FH | Genetics | Epilepsy (E-CHESS score) | DD | LD | Tubers (dominant lobe) | Mineral-ization | SEN | SEGA |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1. | M | 1 | Fits, RM | No | TSC2 | Yes (7) | Yes | Yes | Yes (right temporal lobe) | Partial | Foramen of Monro (b/l) | Yes |
| 2. | M | 6 | Fits | No | TSC2 | Yes (8) | Yes | Yes | Yes (right Frontotemporal lobe) | No | Foramen of Monro (L) | Yes |
| 3. | F | 6 | Fits, DD | No | TSC2 | Yes (7) | Yes | Yes | Yes (none) | No | Frontal horn (R) | Yes |
| 4. | F | 4 | IS, HS | No | TSC2 | Yes (8) | Yes | Yes | Yes (both frontal lobes) | No | Foramen of Monro (b/l) | No |
| 5. | M | 3 | Fits, LD | No | TSC2 | Yes (7) | Yes | Yes | Yes (none) | Partial | Frontal horn (R) | Yes |
| 6. | F | 0 | No | TSC2 | No | No | No | Yes (both frontal lobes) | No | Foramen of Monro (R) | Yes | |
| 7. | M | 11 | IS | No | TSC2 | Yes (11) | Yes | No | Yes (left temporoparietal lobes) | No | Lateral ventricles (b/l) | No |
| 8. | M | 0 | IS | No | TSC2 | No | No | No | Yes (none) | No | Foramen of Monro (R) | No |
| 9. | M | 1 | RM | Yes | TSC2 | Yes (7) | Yes | Yes | Yes (right Parieto-occipital lobe) | Partial | Foramen of Monro (L) | No |
| 10. | M | 7 | IS | Yes | TSC2 | Yes (8) | Yes | Yes | Yes (none) | Partial | Foramen of Monro (b/l) | No |
| 11. | F | 12 | HS | Yes | TSC2 | No | No | Yes | Yes (none) | No | Frontal horn (R) | No |
| 12. | F | 1 | Fits | Yes | TSC2 | Yes (8) | Yes | Yes | Yes (none) | Partial | Frontal horn (left) | No |
| 13. | M | 6 | IIS | Yes | TSC2 | Yes (9) | No | Yes | Yes (none) | Partial | Lateral ventricles (b/l) | No |
| 14. | M | 2 | Fits | Yes | TSC2 | Yes (8) | Yes | Yes | Yes (none) | Partial | Lateral ventricles (b/l) | No |
| 15. | M | 10 | IS | No | TSC2 | Yes (10) | Yes | Yes | Yes (none) | Partial | Foramen of Monro (L) | No |
| 16. | M | 2 | IS | No | TSC2 | Yes (8) | Yes | Yes | Yes (left frontal lobe) | Partial | Lateral ventricles (b/l) | No |
| 17. | F | 12 | Fits | No | TSC2 | Yes (8) | Yes | Yes | Yes (none) | No | Foramen of Monro (b/l) | Yes |
| 18. | M | 4 | Fits | No | TSC2 | Yes (8) | Yes | Yes | Yes (none) | No | Foramen of Monro (b/l) | Yes |
| 19. | F | 9 | DD, RM, IS | No | TSC2 | Yes (11) | Yes | Yes | Yes (left temporal lobe) | Partial | Lateral ventricles (b/l) | No |
| 20. | F | 1 | HS, RM, IS | No | TSC2 | No | No | No | Yes (none) | Partial | Lateral ventricles (b/l) | No |
| 21. | F | 2 | IS, RM | No | TSC2 | Yes (8) | Yes | Yes | Yes (none) | No | Foramen of Monro (L) | Yes |
| 22. | M | 72 | Fits | No | TSC2 | Yes (9) | No | No | Yes (left temporal lobe) | Partial | Foramen of Monro (L) | Yes |
| 23. | F | 2 | IS | No | TSC2 | Yes (8) | Yes | Yes | Yes (none) | No | Foramen of Monro (b/l) | No |
| 24. | F | 24 | Fits | No | TSC2 | Yes (6) | Yes | Yes | Yes (left frontal lobe) | Partial | Frontal horn (L) | No |
| 25. | M | 1 | RM, LD | Yes | TSC2 | No | Yes | Yes | Yes (all left sided lobes) | Partial | Lateral ventricles (b/l) | No |
| 26. | F | 2 | IS, DD | No | TSC2 | Yes (9) | Yes | Yes | Yes (none) | No | Frontal horn (R) | Yes |
| 27. | M | 4 | Fits | No | TSC2 | No | Yes | Yes | Yes (none) | Partial | Foramen of Monro (R) | Yes |
| 28. | F | 11 | Fits | Yes | TSC2 | Yes (6) | Yes | Yes | Yes (none) | No | Lateral ventricles(B/l) | No |
| 29. | F | 2 | RM, HS | No | TSC2 | Yes (9) | No | No | Yes (none) | No | None | No |
| 30. | F | 9 | Fits | No | TSC2 | Yes (7) | No | No | Yes (none) | No | Frontal horn (R) | Yes |
| 31. | M | 3 | Fits | No | TSC2 | Yes (8) | No | No | Yes (none) | Lateral ventricles (b/l) | No | |
| 32. | F | 12 | Fits, LD | Yes | None | Yes (9) | No | Yes | Yes (left parietal lobe) | Partial | Lateral ventricles (b/l) | No |
| 33. | M | 36 | Fits | Yes | None | No | No | No | Yes (none) | No | Foramen of Monro (b/l) | No |
| 34. | M | 0 | HS | No | TSC2 | No | No | No | Yes (none) | Partial | Foramen of Monro (b/l) | Yes |
| 35. | M | 36 | DD | No | None | No | No | Yes | Yes (right frontal lobe) | Partial | Foramen of Monro (b/l) | No |
| 36. | F | 9 | Fits | No | TSC 1 | Yes (5) | No | No | Yes (both frontal lobes) | No | None | No |
| 37. | F | 2 | RM, IS | No | TSC2 | Yes (8) | No | No | Yes (left frontal lobe) | No | Lateral ventricles (b/l) | No |
| 38. | F | 8 | Fits | No | None | Yes (8) | Yes | Yes | Yes (left frontal and right occipital lobes) | Partial | Foramen of Monro (R) | No |
DD: developmental delay, LD: learning disabilities, E-CHESS: early childhood epilepsy severity score, SEN: subependymal nodules, SEGA: subependymal giant cell astrocytoma, b/l: bilateral, M: male, F: female, RM: rhabdomyoma, IS: infantile spasm, HS: hypopigmented spots, FM: Foramen of Monro, LV: lateral ventricle, FH: frontal horn, L: left, R: right