Prevalence rates of diagnostic criteria, symptoms, and complications in 150 unselected neurofibromatosis type 1 (NF1) children (group A)
| % (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.