N | 35 |
---|---|
Sex (n, %) | Â |
 Male | 19 (54.3) |
 Female | 16 (45.7) |
CA (years; mean ± SD (range)) | 13.5 ± 7.8 (0.75–29.5) |
CA < 18 years, n (%) | 26 (74.3) |
CA at diagnosis (years; mean ± SD (range)) | 1.3 ± 3.5 (0–20.5) |
First presenting signs and symptoms, n (%) | |
 Seizures/epilepsy | 22 (62.9) |
 Infantile spasms | 7 (23.3) |
 Cardiac rhabdomyoma | 10 (28.6) |
Organ manifestations, n (%)* | Â |
 Cortical tubers | 32 (91.4) |
 SEN | 29 (82.9) |
 SEGA | 8 (22.9) |
 Cardiac rhabdomyoma | 22 (62.9) |
 Renal AML | 15 (42.9) |
 Renal cysts | 17 (48.6) |
 Retinal hamartoma | 2 (5.7) |
 Epilepsy, n (%) | 30 (85.7) |
Genetics, n (%) | Â |
 Testing completed | 23 (65.7) |
 TSC1 mutation** | 6 (26.1) |
 TSC2 mutation | 15 (65.2) |
 NMI | 2 (8.7) |
 Positive family history for TSC | 12 (34.3) |