In station 5 you may be asked assess a patient with back pain who you then discover has neurofibromatosis.

HISTORY (3 minutes)

  • Timing questions: when did back pain start, sudden/gradual onset, constant/intermittent, progressing, ever had back pain like this before?
  • Back Pain Red Flags
    • Weakness/sensory disturbance/perianal sensation/bowels/bladder/walking/ worse when cough, strain, sneeze, lying down (cord compression/cauda equina)
    • Ever had cancer? Night sweats, weight loss, anorexia, smoking (cancer/mets)
    • Fever, ivdu, TB, HIV, diabetes, immunosuppression (infection/immunosuppression)
    • Steroids, Osteoporosis, Fx of osteoporosis, fractures (vertebral collapse)
    • Joint problems, skin, eyes, bowels, morning stiffness (inflammatory back pain)
    • Trauma
    • Bleeding, infection, tiredness (myeloma)
  • PMH, Fx, Dx, Sx
  • Neurofibromatosis questions:
    • Headache, visual disturbance, personality change (optic glioma/meningioma)
    • Seizures (epilepsy)
    • BP (hypertension secondary to RAS, phaeochromocytoma or coarctation of the aorta)
    • Palpitations, anxiety, sweating, tremor (phaeochromocytoma)
    • Hearing (acoustic neuroma)
    • School/college/university (reduced IQ)
    • Fx
    • Skin- skin discolouration, painful/bothersome lumps/bumps on skin. Any recent change in lesion? (sarcomatous change)
    • Ando pain/bloating/dyspepsia/bleeding (GI carcinoid, obstruction, bleeding)
    • Breathing (lung cysts, fibrosis)

EXAMINE (3 minutes)

  • Skin and armpits (neurofibromas, cafe au lait spots, axillary freckles)
  • Examine the back (kyphosis, scoliosis)
  • Examine Neuro- CNs 5-8, cerebellar, power, sensation
  • Examine eyes (lisch nodules)- VA, fundoscopy, VF, pupils, eye movements
  • CVS (murmur of coarctation), Resp (creps), Abdo ( inguinal freckles, renal bruits)
  • Offer to check the BP (phaeochromocytoma, renal artery stenosis, co-arctation)

ICE and EXPLANATION (2 minutes)

There are lots of causes for back pain. It may be related/unrelated to your neurofibromatosis. Need to get MRI scan of your spine to rule out any compression of your spinal cord. In the mean time, I’ll get you some analgesia.


  • Autosomal dominant
  • 1 in 3000, M+F
  • Multisystem disorder
  • Type 1 Chr 17 NF1 gene (affects skin, neuro, bone)
  • Type 2 Chr 22 (bilateral acoustic neuromas, meningiomas, schwannomas)
  • Usually asymptomatic
  • It is a clinical diagnosis

Type 1 NF

  • 2 or more of:
    • Cafe au lait 6 or more > 15mm (year 1 and increase size and no. with age)
    • 2 neurofibromas or 1 plexiform                                (by puberty usually)
    • Freckling                                                 (by age 10 usually)
    • Optic nerve glioma
    • 2 Lisch nodules                                                 (by age 6 usually)
    • Bone eg. Sphenoid dysplasia
    • First degree relative with NF1


  • BP
  • CXR/CT chest (fibrosis, cysts)
  • Renal USS (renal artery stenosis)
  • Urinary metanephrines, MRI adrenals (Phaeochromocytoma)
  • Genetic testing
  • CT/MRI head
  • XR spine, MRI spine
  • Skin bx to exclude sarcoma
  • Slit lamp exam for lisch nodules


  • MDT: geneticist, neurologist, plastic surgeon, orthopaedic surgeon, opthalmologist
  • Monitor for compression/malignant change/raised BP/optic glioma
  • Treat epilepsy and hypertension
  • Remove spinal cord tumour and optic glioma and meningiomas
  • Remove painful or bothersome neurofibromas (e.g. under bra straps), or compressive or malignant ones.
  • Removal of plexiform neuroma on face risks damage to cranial nerves and it can recur
  • Annual BP , eye check, bone check and skin check


  • Lipomas e.g. Dercum’s disease
  • Cafe au lait spots- McCune-Albright syndrome, tuberous sclerosis

Written by Dr Sarah Kennedy

Resources used include those listed in the references section of this webpage