Musculoskeletal CT Appearances

Neurofibromatosis CT Findings

Type 1 (NF1)

• Well-marginated, round or lobulated solid masses (neurofibromas or nerve sheath tumors)
• Focal or plexiform
• Arise from peripheral nerves
• Hypoenhancing
• Interspersed fat

Type 2 (NF2)

• Vestibular schwannomas (unilateral or bilateral)
• Accompanied by meningiomas and/or ependymomas

Other Information About Neurofibromatosis

Etiology:

• NF is congenital
• Can be inherited or caused by genetic mutation

Epidemiology:

• Symptoms are usually detected by age 10

Presentation:

• “café au lait” spots
• Freckling near skin folds
• Lisch nodules
• Palpable neurofibromas
• Large head size
• Short stature
• Scoliosis
• Bowed legs

Prognosis:

• NF has no cure but symptoms can be managed
• NF does not affect life expectancy

Related Pearls: Soft Tissue and Muscle Tumors