Neurofibromatosis

Neurofibromata- benign tumour derived from peripheral nerves elements

Neurofibromatosis –presence of multiple neurofibromas in pts, in combination

with other dermatological manifestation

NF Type 1(Von Ricklinghausen’s Disease) NF Type 2 (Bilateral acoustic

neurofibromatosis)
Autosomal dominant
Chromosome 7 Chromosome 22 with variable
penetrance
DX-2 out of criteria below Dx-one of those found
• ≥ 6 café au lait macules > 5 mm 1. Bilateral vestibular schwannomas
prepubertal and > 15 mm post seen on MRI/CT
pubertal 2. First degree relatives with NF2 or
• ≥neurofibromas of any type or 1 either
plexiform - Unilateral vestibular schwannoma
• Freckling in axilary and inguinal - One of the following
regions (neurofibroma,meningioma,glioma,
Schwannoma, juvenile cataract
• Optic glioma—ben.tumour on
(NFT2)---may presence b4 others,may
optic nerve/chiasm
be good for screening)
• ≥Lisch nodules
• Distinctive osseous lesions typical
of NF1 eg sphenoid dysplasia
• First degree relatives with NF1
according to criteria above
Complications
• Pressure effects eg. Spinal cord and nerve root compression
• Deafness with VIIth CN—tinnitus and vertigo
• Sarcomatous transformation-only in NFT1---5-13% of cases
• Intra abdominal effects-obstruction,chronic gastro intestinal bleeds
• Skeletal changes-can cause kyphoscoliosis,subperiosteal bony cysts ,
dysplasia of the skull, bowed leg and Pseudarthrosis
• Malignancy—5% of NFT1, meningioma in 45% NFT2
• HTN-renal artery stenosis/pheochromocytoma
• Also associated with intellectual disability(esp NFT1) and epilepsy
Management
-Manage by MDT-geneticist,neurologist,surgeon, BP (monitor BP/cutaneous survey)
-Assymptomatic---no need for treatment
-large flexiform neurofibromas ---left it alone
-small neurofibroma can be removed if painful----regrowth is usual
-optic gliomas may e treated with radiation
-NB! Genetics counseling
Clinical Cases

-examine this lump/pt

Examine lump –as usual

Important point
• -solitary/multiple
• -pedunculated nodules
• -severe deformity if arise from deeper nerves
• -associated café au lait spots-if see one, ask pts do you have any other?
• -palpate----soft and fleshy in consistency
• -complete exam---I would like to ask pt
How this lump/s affect their lives
Multiple fibromata---I will incline to check for CN,measure BP/renal bruits(renal
artery stenosis)
Cervical Spondylosis

Pathophysiology

 Degeneration of one or more of the cervical intervertebral discs leads to

narrowing of the disc space and the production of bony and cartilaginous
osteophytes

 The disc changes are the earliest then , facet joints and vertebral joints .

 The osteophytes, or spurs, project backwards into the spinal canal, or

laterally into the intervertebral foramina. There is also degeneration of the
nucleus pulposus and protrusion of the disc

Effects

 Compression of spinal cord-myelopathy

 Compression of nerve roots –radiculopathy

Symptoms

1. Early- shoulder and neck muscle pain and crepitus on moving neck

2. Brachalgia, i.e. stabbing or dull pain going down into the arm and/or
forearm---indicates nerve root irritation and compromise, and/or frank
compression

3. Forearm/wrist pain

Degenerative features:

• reduced neck mobility

• painful, tender spine

• crepitus on movement

Radicular features(Radiculopathy- nerve root compression)

• pain - sharp, stabbing; exacerbated by coughing; may be superimposed on a

more constant deep ache over the shoulders down to the lower scapulae and
down the arms; occipital headache
• paraesthesia - numbness / tingling in a root distribution
 • root signs:

o dermatosensory loss

o lower motor neurone signs - according to site of lesion

• compression of vertebral artery and oesophagus may give rise to 'drop

attacks' and dysphagia

Myelopathic features-compression of spinal cord

• arms - lower motor neurone signs at the level of the lesion with upper motor
neurone signs below that level
• legs - upper motor neurone signs (spasticity,________tendon
reflexes,babinski___,; sensory signs less prominent

• sphincter - disturbance seldom seen as an early feature

o about 50% develop bladder sphincter symptoms such as urgency, but

anal sphincter disturbance is rare

• in about 80% of cases there may be loss of vibration sensation in the lower
extremities

o some patients may have posterior column dysfunction with impaired

joint position sense and two-point discrimination

• Lhermitte's sign ---- paraesthesia in all extremities induced by flexion or

extension of the cervical spine and caused by cord compression -seldom
found

Quiz-this sign also positive in__________ and _________

• acute myelopathy may occur as a result of a fall in an elderly patient with

pre-existing spondylosis and stenosis of the vertebral canal - may or may not
have been symptomatic before the fall
• central cord syndrome typically produces weak arms and hands, but
spares the peripheral corticospinal tracts, thus lower limb function is not as
severely impaired.

Typical motor and sensory deficits from individual root involvement

C4/C5 Elbow sensation, supraspinatus, weakness of abduction of arm
C5/C6 Weak biceps and deltoid,↓supinator and biceps jerks,numb thumb
C7 Weak triceps and finger extension,↓triceps jerks and numb middle
finger
C8/T1 Weak finger flexors and small muscle of the hand, numb 5 th and ring
finger

Ix
 1. MRI - the best
2. plain x-ray of cervical spine - look for:
a. congenital narrowing of canal, loss of lordosis
b. narrowing of disc space and osteophytic protrusion
c. subluxation
3. cervical myelogram---contrast medium then xray
a. lateral views identify anterior disc bars compressing the cord
b. antero-posterior views demonstrate root obliteration/ filling defect
arising from disc or osteophyte protrusion
4. axial CT - necessary only if no site for compression can be easily
demonstrated
5. Time to walk 30 m----cheap and reliable to monitor progress

DDx

• cervical rib syndrome ---congenital extra ribs compress brachial plexus

• carpal tunnel syndrome

• supraspinatus tendon lesions

• multiple sclerosis

• neurofibromatosis involving the nerve roots

• vitamin B12 deficiency, causing subacute combined degeneration of the

spinal cord.

Treatment

Conservative

• Avoid heavy lifting

• analgesia and anti inflammatory eg NSAIDs, steroids injection

• short course of a muscle relaxant such as diazepam - muscle spasm (benefit

during the initial phase )

• others

o a rigid neck collarl – benefit in short term (no more than about a week).
Even where myelopathy has occurred, around 50% of affected patients
will improve with the use of a collar.

o physiotherapy

Surgery

• Removal of osteophytes
• Laminectomy/laminoplasty - usually, a wide decompression, e.g. from C3 to
C7
 • foraminectomy - decompression of nerve root at one or more levels after
drilling away overlying bone

• ant spinal fusion---no extra benefit

Rare Complications

1. Diaphragm paralysis
2. Spinal artery syndrome-mimic angina---------spinal artery compression,loss
pain n T b4vibration)

Clinical Cases and OSCE in Sx-case 126