Table 1.
Clinical and genetic characteristics of the study group of patients with TSC
| Whole group (N = 10) | TSC2 (N = 5) | TSC1 (N = 4) | No mutation (N = 1)* | |
|---|---|---|---|---|
| Sex (M/F) | 6 / 4 | 2 / 3 | 4 / 0 | 1 |
| Age (years) | 11.78+/−4.44 | 10.32+/−5.41 | 13.25+/−3.61 | 13.17 |
| Everolimus dose | 5.95+/−2.08 | 6.99+/−1.77 | 4.56+/−2.1 | 6.3 |
| Number of SEGA lesions | ||||
| • 1 | 7/10 | 2/5 | 4/4 | 1 |
| • ≥2 | 3/10 | 3/5 | 0 | 0 |
| • bilateral | 3/10 | 3/5 | 0 | 0 |
| Skin lesions: | ||||
| • Facial angiofibroma | 9/10 | 5/5 | 3/4 | 1 |
| • Fibrous cephalic plaque | 3/10 | 2/5 | 0/4 | 1 |
| • Hypomelanotic macules | 7/10 | 5/5 | 1/4 | 1 |
| • Shagreen patch | 6/10 | 3/5 | 2/4 | 1 |
| Other features: | ||||
| • Angiomyolipomas | 5/10 | 4/5 | 0/4 | 1 |
| • Multiple renal cysts | 0 | 0 | 0 | 0 |
| • Cardiac rhabdomyoma | 5/10 | 3/5 | 2/4 | 0 |
| • Retinal hamartomas | 4/10 | 3/5 | 0 | 1 |
| • Nonrenal hamartomas | 1/10 | 0 | 1/4 | 0 |
| Mental retardation | 7/10 | 5/5 | 1/4 | 1 |
| Epilepsy | 8/10 | 5/5 | 2/4 | 1 |
| Number of antiepileptic drugs | ||||
| • 1 | 1/10 | 0 | 1/4 | 0 |
| • 2 | 4/10 | 3/5 | 0 | 1 |
| • 3 | 3/10 | 2/5 | 1/4 | 0 |
*definite diagnosis of TSC was made according to the current clinical diagnostic criteria from The Tuberous Sclerosis Complex Diagnostic Criteria Update 2012