Table 3.
Clinical characteristics of SEGA in adults with mutations in TSC1 vs. TSC2.
| Adults with TSC1 mutation (n = 77) | Adults with TSC2 mutation (n = 196) | p-value | |
|---|---|---|---|
| Patients with history of SEGA | 12 (15.6) | 69 (35.2) | 0.0004 |
| Median (range) age at SEGA diagnosis, years | 29 (9–51) | 21 (<1–49) | 0.0599 |
| No. of patients with ongoing SEGA during the study | 8 (66.7) | 61 (88.4) | 0.1317 |
| Multiple | 5 (62.5) | 19 (31.1) | 0.1158 |
| Bilateral | 5 (62.5) | 18 (29.5) | 0.1062 |
| Growing SEGA since previous scan | 1 (12.5) | 13 (21.3) | 1.0000 |
| Signs and Symptoms | |||
| None | 5 (62.5) | 49 (87.5) | 0.3580 |
| Increase in seizure frequency | 3 (37.5) | 15 (28.3) | 0.6243 |
| Behavioural disturbance | 1 (12.5) | 14 (26.4) | 1.0000 |
| Headache | 1 (12.5) | 10 (18.9) | 0.5753 |
| Regression/loss of cognitive skills | 0 | 5 (9.4) | 1.0000 |
| Ventriculomegaly | 0 | 4 (7.5) | 1.0000 |
| Increased intracranial pressure | 1 (12.5) | 3 (5.7) | 1.0000 |
| Papilloedema | 1 (12.5) | 3 (5.7) | 1.0000 |
| Sleep disorder | 0 | 2 (3.8) | 1.0000 |
| Eye movement abnormalities | 0 | 2 (3.8) | 1.0000 |
| Visual impairment | 0 | 2 (3.8) | 1.0000 |
| Neuroendocrine dysfunction | 1 (12.5) | 2 (3.8) | 0.2408 |
| Other | 1 (12.5) | 3 (5.7) | 0.3098 |
| Patients received treatment | 8 (66.7) | 37 (53.6) | 0.0716 |
Values are expressed as n (%), unless otherwise specified.
SEGA, subependymal giant cell astrocytoma.