- Etiology: hamartomatous disorder involving ectoderm and mesoderm
- Imaging:
— Orbit: bilateral optic nerve gliomas
— Skull: macrocephaly, dysplasia of greater wing of sphenoid
— Brain: brainstem glioma, focal areas of signal intensity (FASI) – T2 hyperintense foci in cerebellar peduncle, brainstem, thalamus, globus pallidus and subcortical white matter
— Spine: dural ectasia, enlarged neuroforamina, kyphoscoliosis from neurofibromas, pseudoarthrosis
— Bones: pseudoarthrosis, anterior bowing of long bones, inferior rib notching (ribbon ribs), tibial dysplasia, non-ossifying fibromas around knees
— GI: 10-25% of NF-1 patients have gastrointestinal involvement, neurofibroma is most common gastrointestinal tract neoplasm in the form of myenteric plexiform neurofibromas which appear as polyps that can cause GI bleeding / intussusception / obstruction / volvulus, can also have GIST tumors
— GU: pheochromocytoma
— Vascular: Moya Moya syndrome, aneurysms, mid aortic syndrome, renal artery stenosis
— Throughout body: plexiform neurofibromas, macrodystrophia lipomatosa - Complications: 5-10% of neurofibromas degenerate into malignant peripheral nerve sheath tumors
- Clinical: for diagnosis of neurofibromatosis type 1 you need at least 2 of the following
— >6 cafe au lait spots
— >2 pigmented iris hamartomas
— axillary or inguinal freckling
— optic nerve gliomas
— first degree relative with neurofibromatosis-1
— dysplasia of greater wing of sphenoid
Radiology Cases of Neurofibromatosis Type 1
Radiology Cases of Plexiform Neurofibroma in Neurofibromatosis Type 1


Radiology Cases of Malignant Peripheral Nerve Sheath Tumor in Neurofibromatosis Type 1

Radiology Cases of Moya Moya Syndrome in Neurofibromatosis Type 1

Radiology Cases of Mid Aortic Syndrome in Neurofibromatosis Type 1

Radiology Cases of Renal Artery Stenosis in Neurofibromatosis Type 1

Radiology Cases of Optic Pathway Glioma in Neurofibromatosis Type 1


Clinical Cases of Neurofibromatosis Type 1
