PASSMED Flashcards
What is tuberous sclerosis
genetic condition of autosomal dominant inheritance. Like neurofibromatosis, the majority of features seen in TS are neurocutaneous.
cutaneous features of tuberous sclerosis
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
neurological features of tuberous sclerosis
developmental delay
epilepsy (infantile spasms or partial)
intellectual impairment
other features of tuberous sclerosis
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
features of 3rd nerve palsy
eye is deviated ‘down and out’
ptosis
pupil may be dilated (sometimes called a ‘surgical’ third nerve palsy)
causes of third nerve palsy
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
what is charcot marie tooth disease
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.
features of charcto marie tooth disease
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
what is syringomyelia
a collection of cerebrospinal fluid within the spinal cord.
what is syringobulgia
a fluid-filled cavity within the medulla of the brainstem.
causes of syringomyelia
a Chiari malformation: strong association
trauma
tumours
idiopathic
features of syrignomyelia
‘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
Ix for syringomyelia
full spine MRI with contrast to exclude a tumour or tethered cord. A brain MRI is also needed to exclude a Chiari malformation.
features of cauda equidina
lower back pain
urinary incontinence/retention
reduced sensation in the perianal area
decreased anal tone
Ix for cauda equina
urgent MRI
causes of speech and language distrubance
stroke broca wernicke MS cerbellar bulbar palsy CJD
symptoms of CJD
- 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
what is CJD
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.
CJD types
sporadic - most commone type
45-75
variant CJD - mad 🐄 disease
familial
iatrogenic
L5 nerve lesion features
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.
what is footdrop
weakness of the foot dorsiflexors.
causes of foot drop
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
causes of syringomyelia
hydrocephalus
arnold chiar formation 2 causing dilation of central canal
treatment for syringomyeloa
surgery
prognosis of CJD
will die within a year of the symptoms starting
what is sporadic CJD
most common type
45-75 symptoms airse in 60-65
what is variant CJD
consuming meat from a cow that have had mad cow disease
characteristic appearance of CJD
spongiform - holes in barain
how is CJD diagnosed
EEG - specific pattern
CSF tests - second generation Real Time-Quaking-Induced Conversion (RT-QuIC). - detects pathogenic prion protein in the CSF
MRI - 90% accurate
how is CJD confirmed diagnosis
brain biopsy or autopsy
treatment for CJD
no cure
relieving symptoms
- opiate drugs to relieve pain
- clonazepam and sodium valporate - relieve myoclonu
later stages - IV fluids and artificial feeding
define autonomic dysreflexia
The combination of severe hypertension, flushing and sweating without a congruent response in heart rate in the context of spinal cord injury
in who does autonomic dysreflexia occur in
patients who have had a spinal cord injury at, or above T6 spinal level
what medication is given to treat cerebral/vasogenic oedema
dexamethasone
what is vasogenic oedema
break in the blood brain barrier
Mx of neuropathic pain
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
causes of neuropathic pain
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)
features of neuropathic pain
Ix
Burning Tingling Pins and needles Electric shocks Loss of sensation to touch of the affected area
DN4 Questionnaire
Subacute combined degeneration of the spinal cord (vitamin B12 & E deficiency)
- Lateral corticospinal tracts
- Dorsal columns
- Spinocerebellar tracts
- Bilateral spastic paresis
- Bilateral loss of proprioception and vibration sensation
- Bilateral limb ataxia
typical features of a post LP headache
- 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
Mx of post LP headache
supportive - analgesia rest
blood patch, epidural saline, IV caffeine
>72 hours
what is duchenne muscular atrophy
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
what is beckers muscular dystrophy
x-linked recessive
dystrophin is altered
begin int first decade
continue to walk into early adult life
cramps ass w exercise
cardiomyopathy worse -> arrhythmias
what is myotonic dystrophy
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
what is autonomic dysreflexia
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
