Table 2.
TSC signs observed within 16 weeks of age in patients with ‘early TSC diagnosis’ (n = 82)
| TSC signs | Major criteria | Minor criteria | Pathogenic | ||||||
|---|---|---|---|---|---|---|---|---|---|
| CTs | SEN | CD | SEGA | HMs | MRH | MRC | RAP | TSC1/2 | |
| mutation | |||||||||
| No. of patients | 82 | 71 | 66 | 5 | 35 | 5 | 8 | 2 | 3 |
| Per cent % | 100% | 86.6% | 80.5% | 6.1% | 42.7% | 6.1% | 9.8% | 2.4% | 3.7% |
CTs cardiac tumors, SEN subependymal nodules, CD cortical dysplasia: includes cortical tubers and white matter migration lines, SEGA subependymal giant cell astrocytoma, HMs hypomelanotic macules, MRH multiple retinal hamartomas, MRC multiple renal cysts, RAP retinal achromic patch