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Diagnostic criteria n (%) ≥6 Café-au-lait macules 45 (90) Skin-fold freckling 17 (34) ≥2 Neurofibroma 6 (12) ≥1 Plexiform neurofibroma 12 (24) ≥2 Iris Lisch nodules 21 (42) Optic pathway glioma 17 (34) Osseous distinctive lesions Thinning of the long bone cortex (-/+ pseudarthrosis) 1 (2) History of first-degree family with NF1 21 (42) Father 13 (26) Mother 9 (18) Sibling 15 (30) Signs/symptoms n (%) Scoliosis 9 (27.3) Epilepsy 7 (21.2) Headache 5 (15.2) Visual impairment 5 (15.2) Intellectual disability 6 (18.1) Macrocephaly 3 (9.1) Cardiac disease 2 (6.1) Central nervous system malformations 2 (6.1) Leg length discrepancy 2 (6.1) Neurofibromatosis-Noonan syndrome 2 (6.1) Learning disabilities 2 (6.1) Pseudarthrosis 1 (3) Hypertension 1 (3) Precocious puberty 1(3) Short stature 6 (18.1) Radiological testing n (%) Brain CT scan 11 (22) Brain MRI 46 (92) Hyperintensities on T2WI* 30 (60) Tumor types identified, n=30 n (%) Non-neoplastic tumors 4 (13.3) Neoplastic tumors Benign Hamartoma 4 (13.3) Schwannoma 2 (6.6) Malignant Optic pathway glioma 17 (56.6) Intracranial Tumors (Astrocytoma and glioma) 3 (10) ↵* T2WI - T2-weighted image.
Type of tumor Age (years) Age at diagnoses (years) Locations Cutaneous neurofibromas (n=4) Female 18 10 Right foot Male 3 1 Trunk, buttock Male 8 1 Right arm Female 13 5 Back Schwannoma (n=2) Female 14 10 Cervical (C1- C7) Male 8 1 Brain Hamartoma (n=4) Female 18 13 Brain Male 13 2 Brain Female 1 3 Brain Male 8 Not documented Brain Pilocytic astrocytoma (n=1) Female 15 8 Brain (posterior fossa) Brainstem Glioma (n=1) Female 13 13 Brain (brainstem) Low-grade astrocytoma (n=1) Male 17 Not documented Brain (frontal lobe) Optic Pathway Glioma (n=17) Male 11 Bilateral (n= 9) Female 6 Unilateral (n=8)