% (n) | Huson and colleagues7¶(%) | Obringer and colleagues6 (%) | |
---|---|---|---|
Diagnostic criteria | |||
Café au lait spots | 96.7 (145) | 97–100 | 97.0 |
Freckling | 85.3 (128) | 70.0 | 81.0 |
Neurofibromas | |||
Dermal | 40.0 (60) | 0–40 | 15.0 |
Plexiform2-150 | 26.6 (40) | 25.7 | − |
Lisch nodules | 52.0 (78) | 79–85 | 30.0 |
Distinctive osseous lesion† | 7.8 (11) | − | 6.0 |
Complications | |||
Mental retardation | 17.2 (19) | 2.9 | − |
Optic pathway glioma | 11.3 (17) | 5.1 | 4.0 |
Epilepsy | 0.7 (1) | 5.1 | – |
Plexiform neurofibroma‡ | 18.0 (27) | 12.8 | – |
Bowing | 2.7 (4) | – | |
Pseudoarthrosis | 2.0 (3) | 7.8 | 6.0 |
Hemihypertrophy | 2.7 (4) | – | – |
Severe scoliosis | 2.0 (3) | 2.6 | – |
Aqueduct stenosis | 0.7 (1) | 2.1 | – |
Atlantoaxial dislocation | 0.7 (1) | – | – |
Endocrinological disorder | 4.6 (7) | – | – |
Central precocious puberty | 2.0 (3) | – | – |
Growth hormone deficiency | 2.0 (3) | – | – |
Diencephalic syndrome | 0.7 (1) | – | – |
Malignancy§ | 4.0 (6) | 1.5**
| 5.0 |
Neurofibrosarcoma | 2.0 (3) | – | – |
Malignant brain tumour | 2.7 (4) | – | – |
↵2-150 Total number of plexiform neurofibromas; †sphenoid and occipital dysplasia (number of x rays/computed tomography scans of skull = 138) and congenital bowing; ‡plexiform neurofibromas considered as complications; §one child was diagnosed with both an astrocytoma and a neurofibrosarcoma; ¶If available, percentages shown in NF1 patients ⩽ 18 years (n = 39); **both rhabdomyosarcomas.