PASSMED

Question 1

What is tuberous sclerosis

Answer 1

genetic condition of autosomal dominant inheritance. Like neurofibromatosis, the majority of features seen in TS are neurocutaneous.

Question 2

cutaneous features of tuberous sclerosis

Answer 2

depigmented ‘ash-leaf’ spots which fluoresce under UV light

roughened patches of skin over lumbar spine (Shagreen patches)

adenoma sebaceum (angiofibromas): butterfly distribution over nose

fibromata beneath nails (subungual fibromata)

café-au-lait spots* may be seen

Question 3

neurological features of tuberous sclerosis

Answer 3

developmental delay

epilepsy (infantile spasms or partial)

intellectual impairment

Question 4

other features of tuberous sclerosis

Answer 4

retinal hamartomas: dense white areas on retina (phakomata)

rhabdomyomas of the heart

gliomatous changes can occur in the brain lesions

polycystic kidneys, renal angiomyolipomata

lymphangioleiomyomatosis: multiple lung cysts

Question 5

features of 3rd nerve palsy

Answer 5

eye is deviated ‘down and out’
ptosis
pupil may be dilated (sometimes called a ‘surgical’ third nerve palsy)

Question 6

causes of third nerve palsy

Answer 6

diabetes mellitus
vasculitis e.g. temporal arteritis, SLE
false localizing sign* due to uncal herniation through tentorium if raised ICP
posterior communicating artery aneurysm
pupil dilated
often associated pain
cavernous sinus thrombosis
Weber’s syndrome: ipsilateral third nerve palsy with contralateral hemiplegia -caused by midbrain strokes
other possible causes: amyloid, multiple sclerosis

Question 7

what is charcot marie tooth disease

Answer 7

most common hereditary peripheral neuropathy. It results in a predominantly motor loss. There is no cure, and management is focused on physical and occupational therapy.

Question 8

features of charcto marie tooth disease

Answer 8

There may be a history of frequently sprained ankles
Foot drop
High-arched feet (pes cavus)
Hammer toes
Distal muscle weakness
Distal muscle atrophy
Hyporeflexia
Stork leg deformity

Question 9

what is syringomyelia

Answer 9

a collection of cerebrospinal fluid within the spinal cord.

Question 10

what is syringobulgia

Answer 10

a fluid-filled cavity within the medulla of the brainstem.

Question 11

causes of syringomyelia

Answer 11

a Chiari malformation: strong association
trauma
tumours
idiopathic

Question 12

features of syrignomyelia

Answer 12

‘cape-like’ (neck and arms) loss of sensation to temperature and pain BOTH SIDES

this is because the spinothalamic passes the ventral white commisure which is compressed here

LMN signs - compression of ventral horn

spastic weakness (predominantly of the upper limbs)
paraesthesia
neuropathic pain
upgoing plantars
bowel
bladder dysfunction

Question 13

Ix for syringomyelia

Answer 13

full spine MRI with contrast to exclude a tumour or tethered cord. A brain MRI is also needed to exclude a Chiari malformation.

Question 14

features of cauda equidina

Answer 14

lower back pain
urinary incontinence/retention
reduced sensation in the perianal area
decreased anal tone

Question 15

Ix for cauda equina

Answer 15

urgent MRI

Question 16

causes of speech and language distrubance

Answer 16

stroke
broca
wernicke
MS
cerbellar
bulbar palsy
CJD

Question 17

symptoms of CJD

Answer 17

• loss of intellect and memory
• changes in personality
• loss of balance and co-ordination
• slurred speech
• vision problems
  these are early signs of CJD
• abnormal jerking movements
• progressive loss of brain function and mobility
• blindness

Question 18

what is CJD

Answer 18

degenerative

abnormal infectious protein called a prion.

These prions accumulate at high levels in the brain and cause irreversible damage to nerve cells

aren’t destroyed by the extremes of heat and radiation used to kill bacteria and viruses, and antibiotics or antiviral medicines have no effect on them.

Question 19

CJD types

Answer 19

sporadic - most commone type
45-75

variant CJD - mad 🐄 disease

familial

iatrogenic

Question 20

L5 nerve lesion features

Answer 20

weakened dorsiflexion, inversion and eversion of the ankle with normal plantarflexion.

reduced sensation in the first web-space between her big toe and second toe.

Question 21

what is footdrop

Answer 21

weakness of the foot dorsiflexors.

Question 22

causes of foot drop

Answer 22

common peroneal nerve lesion - the most common cause
L5 radiculopathy
sciatic nerve lesion
superficial or deep peroneal nerve lesion
other possible includes central nerve lesions (e.g. stroke) but other features are usually present

Question 23

causes of syringomyelia

Answer 23

hydrocephalus

arnold chiar formation 2 causing dilation of central canal

Question 24

treatment for syringomyeloa

Answer 24

surgery

Question 25

prognosis of CJD

Answer 25

will die within a year of the symptoms starting

Question 26

what is sporadic CJD

Answer 26

most common type 45-75 symptoms airse in 60-65

Question 27

what is variant CJD

Answer 27

consuming meat from a cow that have had mad cow disease

Question 28

characteristic appearance of CJD

Answer 28

spongiform - holes in barain

Question 29

how is CJD diagnosed

Answer 29

EEG - specific pattern CSF tests - second generation Real Time-Quaking-Induced Conversion (RT-QuIC). - detects pathogenic prion protein in the CSF MRI - 90% accurate

Question 30

how is CJD confirmed diagnosis

Answer 30

brain biopsy or autopsy

Question 31

treatment for CJD

Answer 31

no cure relieving symptoms - opiate drugs to relieve pain - clonazepam and sodium valporate - relieve myoclonu later stages - IV fluids and artificial feeding

Question 32

define autonomic dysreflexia

Answer 32

The combination of severe hypertension, flushing and sweating without a congruent response in heart rate in the context of spinal cord injury

Question 33

in who does autonomic dysreflexia occur in

Answer 33

patients who have had a spinal cord injury at, or above T6 spinal level

Question 34

what medication is given to treat cerebral/vasogenic oedema

Answer 34

dexamethasone

Question 35

what is vasogenic oedema

Answer 35

break in the blood brain barrier

Question 36

Mx of neuropathic pain

Answer 36

first-line treatment*: amitriptyline, duloxetine, gabapentin or pregabalin if the first-line drug treatment does not work try one of the other 3 drugs in contrast to standard analgesics, drugs for neuropathic pain are typically used as monotherapy, i.e. if not working then drugs should be switched, not added tramadol may be used as 'rescue therapy' for exacerbations of neuropathic pain Other options ``` Capsaicin cream (chilli pepper cream) for localised areas of pain Physiotherapy to maintain strength Psychological input to help with understanding and coping ```

Question 37

causes of neuropathic pain

Answer 37

Postherpetic neuralgia from shingles is in the distribution of a dermatome and usually on the trunk Nerve damage from surgery Multiple sclerosis Diabetic neuralgia typically affects the feet Trigeminal neuralgia Complex Regional Pain Syndrome (CRPS)

Question 38

features of neuropathic pain Ix

Answer 38

``` Burning Tingling Pins and needles Electric shocks Loss of sensation to touch of the affected area ``` DN4 Questionnaire

Question 39

Subacute combined degeneration of the spinal cord (vitamin B12 & E deficiency)

Answer 39

1. Lateral corticospinal tracts 2. Dorsal columns 3. Spinocerebellar tracts 1. Bilateral spastic paresis 2. Bilateral loss of proprioception and vibration sensation 3. Bilateral limb ataxia

Question 40

typical features of a post LP headache

Answer 40

- usually develops within 24-48 hours following LP but may occur up to one week later - may last several days - worsens with upright position - improves with recumbent position

Question 41

Mx of post LP headache

Answer 41

supportive - analgesia rest blood patch, epidural saline, IV caffeine >72 hours

Question 42

what is duchenne muscular atrophy

Answer 42

x-linked recessive - absence of dystrophin which connects cytoskeleton of muscle cells CFs no abnormality at birth - apparent by the fourth year - wheelchair bound by 10 - death by 20 from resp failure or cardiac complications - proximal muscle weakness - gower's sign -> has to climb his legs with his hands - waddling, difficulty rising from sitting, crouching or lying ``` Dx - clinically CK grossly elevated EMG - myopathic DNA ``` Mx - steroids short term improvement

Question 43

what is beckers muscular dystrophy

Answer 43

x-linked recessive dystrophin is altered begin int first decade continue to walk into early adult life cramps ass w exercise cardiomyopathy worse -> arrhythmias

Question 44

what is myotonic dystrophy

Answer 44

autosomal dominant female transmission is the worst ``` CFs - progressive proximal and distal muscle weakness in the upper limbs - myotonia worse in the cold - cataracts - ptosis dysarthria - DM ```

Question 45

what is autonomic dysreflexia

Answer 45

spinal cord injury at, or above T6 spinal level riggered by faecal impaction or urinary retention extreme hypertension, flushing and sweating above the level of the cord lesion, agitation