- Patients and disease characteristics (N=38).
| Characteristics | n (%) |
|---|---|
| Gender | |
| Male | 19 (50.0) |
| Female | 19 (50.0) |
| Age at diagnosis, median (range) | 4 (0-72) |
| Age group | |
| Up to 4 months | 20 (52.6) |
| 4-12 months | 14 (36.8) |
| Over 12 months | 4 (10.5) |
| Diagnosis | |
| Qatar | 24 (63.1) |
| Elsewhere | 14 (36.9) |
| Family history | |
| Yes | 10 (26.3) |
| No | 28 (73.7) |
| Genetic analysis | |
| Mutation in TSC1 | 1 (2.6) |
| Mutation in TSC2 | 33 (86.8) |
| Genetic studies negative | 4 (10.5) |
| Presentation | |
| Infantile spasms | 14 (36.8) |
| Seizures (other than infantile spasms) | 18 (47.3) |
| Developmental delay | 5 (13.1) |
| Cardiac rhabdomyoma | 8 (21.0) |
| Hypopigmented spots | 5 (13.1) |
| Major criteria for TSC | |
| Hypomelanotic nodules | 29 (76.3) |
| Angiofibroma | 20 (52.6) |
| Ungual fibroma | 0 (0.0)) |
| Shagreen patch | 7 (18.4) |
| Retinal hamartoma | 5 (13.1) |
| Cortical dysplasia | 29 (76.3) |
| Subependymal nodules | 37 (97.3) |
| SEGA | 10 (26.3) |
| Cardiac rhabdomyoma | 16 (42.1) |
| LAM | 0 (0.0) |
| AML | 22 (57.8) |
| Minor criteria for TSC | |
| Confetti lesions | 4 (10.5) |
| Dental enamel pits | 2 (5.3) |
| Intra-oral fibroma | 2 (5.3) |
| Retinal achromic patch | 0 (0.0) |
| Multiple renal cysts | 29 (76.3) |
| Non-renal hamartomas | 4 (10.5) |
| Neuro-imaging features | |
| Tubers | 37 (97.3) |
| SEN | 37 (97.3) |
| SEGA | 10 (26.3) |
Values are presented as numbers and percentages (%).
TSC: tuberous sclerosis complex, SEGA: subependymal giant cell astrocytoma, LAM: lymphangioleiomyomatosis, AML: angiomyolipoma, SEN: subependymal nodules