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.