Clinical and neuroimaging features in eight individuals with neurofibromatosis 1 and neurofibromatous neuropathy
| Patient no. | Age at last examination(years) | Age of neuropathy onset (years) | Additional clinical problems | Presence of multiple spinal nerve root neurofibromas on MRI |
|---|---|---|---|---|
| MPNST, malignant peripheral nerve sheath tumour. | ||||
| 1 | 53 | 42 | High grade MPNST left iliac fossa removed in 1986. Norecurrence. Benign plexiform neurofibroma left abdominal wall | Yes (fig 1) |
| 2 | 27 | 17 | Congenital adrenal 21-hydoxylase deficiency. Cervicalintradural neurofibromas removed at age 22. Massiveinoperable pelvic neurofibromas | Yes |
| 3 | 26 | Infancy | Complex partial seizures since childhood | Yes |
| 4 | 31 | 27 | Mild cognitive impairment. Brachial plexus neurofibromas | Yes |
| 5 | 48 | 47 | Cognitive impairment | Yes |
| 6 | 19 | 3 | Left sciatic plexiform neurofibroma | No, only lumbar spine scanned |
| 7 | 62 | 55 | Bony dysplasia of spine and clavicle. Plexiform neurofibromainvolving neck, anterior chest wall, left arm. Died from chronicobstructive airways disease at age 62 | No |
| 8 | 45 | 25 | Benign neurofibromas removed from right L4 and L5 nerveroots at age 33. High grade MPNST left sciatic nerveremoved at age 44. Died from lung metastases at age 45 | Yes on myelogram; MRI not performed |