For a diagnosis of NF-1, at least 2 of the diagnostic criteria should be present3
| NF-1 Diagnostic Criteria | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
|---|---|---|---|---|---|
| Six or more café au lait macules >5 mm in greatest diameter in prepubertal individuals and >15 mm in greatest diameter in postpubertal individuals | Yes | Yes | Yes | Yes | Yes |
| Two or more neurofibromas of any type or 1 plexiform neurofibroma | Yes | ||||
| Freckling in the axillary or inguinal regions | Yes | Yes | Yes | Yes | Yes |
| Optic glioma | Yes | Yes | |||
| Two or more Lisch nodules (iris hamartomas) | Yes | Yes | Yes | ||
| A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudarthrosis | |||||
| A first-degree relative (parent, sibling, or offspring) with NF-1 as defined by the above criteria | Yes | Yes | Unknown (adopted) | ||
| MRI findings: focal abnormal signal intensities | Yes | Yes | Yes | Yes | Yes |