Clinical features of affected patients in FSNF families 1 and 2
| Family 1 | Family 2 | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I.5 | II.4 | III.2 | III.3 | IV.2 | I.2 | II.2 | II.3 | II.5 | III.1 | III.3 | III.4 | Totals | |
| C=cervical; T=thoracal; L=lumbar; ND=no data. | |||||||||||||
| III.3 did not have any spinal neurofibromas 10 years ago, current status unknown. | |||||||||||||
| *One histology proven neurofibroma. †Not biopsied. ‡5 mm tumour right frontal lobe. Unidentified bright object? Cerebral peduncle? | |||||||||||||
| Age (now) | Died at 70 | Died at 56 | 46 | 45 | 15 | 68 | 45 | 43 | 39 | 9 | 8 | 7 | |
| >6 CAL (>15 mm) | + | + | + | + | + | + | + | + | + | + | + | + | 12/12 |
| Spinal neurofibromas | + | + T | + L, T | – | ? | + C, T, L | + C, T, L | + C, T, L | + C, T, L | ND | – | – | 7/10 |
| Cutaneous/plexiform neurofibromas | ND | – | – | – | ? | – | – | 4* | 1† | – | – | – | 2/10 |
| Lisch nodules | ND | – | – | – | ? | – | – | – | – | – | – | – | 0/10 |
| Freckling | ND | – | – | – | ? | + | – | – | – | – | – | – | 1/10 |
| Paraparesis | + | – | + | – | – | + | Weakness | Weakness | Weakness | – | – | – | 6/12 |
| Other findings | MRI‡ | ||||||||||||