Neuro - other conditions Flashcards
SUB ARACHNOID HAEMMORHAGE
i) what is it? what usually causes it? how does it typically px?
ii) name three other ways it caan px? name four RF? name three things it is particularly assoc with?
iii) what is the first line investigation? what other ix can be done? name two things that may be seen? what can be done to confirm the source of the bleeding?
iv) where should pts be managed? what can be used to tx aneurysms? (2) what drug can be given to present vasospasm?
v) what can be done to tx hydrocephalus? (2)
i) bleeding into the SA space - usually caused by a ruptured cerebral aneurysm
px with sudden onset occipital headache (thunderclap headache)
ii) neck stiff, photophobia, vision change, neurol symp eg speech change, weak, seizure, LOC
RF - HTN, smoking, excess ETOH, cocaine, FH
assoc with - cocaine use, SCA, connective tissue disorders, neurofibromatosis, AD PKD
iii) first line is head CT
can do LP = raised red cells and xanthochromia (yellow colour causes by bilirubin)
angiography to confirm bleeding source
iv) mx in specialist neurosurgical unit (may need intub)
sx intervention to treat aneurysm - coiling or clipping
nimodipine to prevent vasospasm
v) shunt or LP
BENIGN ESSENTIAL TREMOR
i) what is it charac by? where is it most noticable?
ii) name four features? name three DDx
iii) name two medications that may improve symptoms?
i) assoc with older age - fine tremor affecting voluntary muscles
most notable in hands - can cause head, jaw, tremor
ii) fine tremor, symmetrical, more prominent on voluntary movement, worse when tired/stress/caffiene, improved by ETOH, absent during sleep
DDs - PD, MS, huntingtons, hyperthyroid, fever, meds eg antipsych
iii) propanolol, primidone (barbiturate)
NEUROPATHIC PAIN
i) what is it caused by? name four things that can cause it?
ii) name four typical features? which questionairre can be used to assess characs of pain? a score over what indicates NP pain?
iii) what are the four first line tx? what can be given for short term flares? what can be given for loc aresa of pain?
iv) what type of NP pain is carbamazepine aa first line tx for?
v) what is complex regional pain syndrome? how may it px? (4)
i) caused by abnormal functioning of sensory nerves > abnormal and painful signals to the brain
caused by post herpetic neuralgia from shingles (dermatome distrib), nerve damage from sx, MS, diabetic neuralgia (feet), trigeminal neuralgia, complex regional pain syndrome
ii) burning, tingling, pins and needles, electric shock, loss of sensation
DN4 questionnaire > score >4 = NP pain
iii) amitriptyline (tricyc), duloxetine (SNRI), gabapentin (anti convul), pregabalin (anticonv)
try all four before moving on
tramadol - short term only
loc area - capsaicin cream
iv) carbamaz - trigeminal neuralgia
v) CRPS - abnormal nerve func > NP pain and abnormal sensations
usually isol to one limb and trigg by injury to areaa
px with hypersensitivity, swelling, colour change, flush with blood, abnorm sweating
HUNTINGTONS CHOREA
i) what is inheritance pattern? what does it cause? around what age do symp begin?
ii) what type of genetic disorder is it? where is the mutation? what is anticipation? what does it lead to? (2)
iii) how does it px? name two things it commonly starts with? name four movement disorders that may follow?
iv) how is it dx? what is medical tx based on?
v) name three medications that can suppress the disordered movement? whaat is life expec after symptom onset? what is the usual cause of death?
i) auto dominant > progressive deterioration of nervous system
usually asymp until 30-50 years
ii) trinucleotide repeat disorder > mut in HTT gene on chromo 4
anticipation - successive generations have more repeats > earlier age of onset and increased disease severity
iii) px with progressive worsening of symp
staarts with cognitive, psycch or mood problems
followed by movement disorders - chorea (invol abnormal movement), eye movement disorders, speech difficult, swallow difficult
iv) dx with genetics
med tx based on symptom relief
v) antipsychs (olanzapine), benzos (diazepam), DA depleting agents (terabenazine)
life expect is 15-20yrs
death is usually due to respiratory diseaase eg pneumonia
LAMBERT EATON MYASTHENIC SYNDROME
i) what is it? how is it different to MG in px? who does it typically occur in? why? which channels are implicated?
ii) how quick do symptoms dev? which muscles are most notably affected firstt? name three other musc it can affect and what this causes
iii) what happens to tendon reflexes? what phenomenom is seen?
iv) what need to be investigated for? which drug allows more ach rel at MNJ?
v) name three other tx options?
i) progressive muscle weaakness with increased use due to damaged NMJ
symptoms more gradual and less pronounced than MG
typically occ in patients with SCLC due to antibodies prod by imm sys against VG ca channels in SCLC
antibodies target and damage VG calcium channels in pre syn NMJ where - damage to motor nerve communication w muscle
ii) symptoms dev slowly
proximal muscles are most affected > prox muscle weakness
also aff intra ocular musc (diplopia), levator muscles in eyelid (ptosis), oropharyngaeal muscles (slurring and dysphagia)
iii) reduced tendon reflexes - refleces temp normal following strong muscle contrac = post tetanic potentiation
iv) investigate for SCLC
amifampridine allows more ach release by blocking K+ channels in pre syn
v) imm supp eg pred/azathioprine, IV immunoglob, plasmapheresis
CHARCOT MARIE TOOTH DISEASE
i) what is it? what does it affect? which area of neurons does it affect? what is the inheritance pattern for most?
ii) when do symptoms usually appear? name six classical features? how are reflexes and muscle tone affected?
iii) what are the ABCDE causes of peripheral neuropathy?
iv) how is it mx?
i) inherited disease that affects peripheral motor and sensory nerves
dysfunc in myelin or axons
most are auto dom
ii) usually start before 10 years old
features: high foot arches (ppes cavus), distal musc wasting (champagne bottle leg), weakness in lower leg (loss of ankle dorsi), weak in hands
reduced tendon reflexes, reduced muscle tone
peripheral sensory loss (periph neuropathy)
iii) Alchohol, B12 defic, Cancer and CKD, Diabetes and drugs (isoniazid, amiodarone, cisplatin), Every vasculitis
iv) no treatment for underluign disease - MDT approach - physio, OT, podiatrist for foot symptoms, othopaedics for joint deforms
NEUROFIBROMATOSIS
i) what is it? where is the NF1 gene found? what does the protein do? what is the inheritance pattern?
ii) what are the 7 features? (CRABBING) how many must be present for a dx?
iii) how is a dx made? how is it managed? name five complications?
iv) where is NF2 gene found? what protein does it code for? what type of tumour develop?
v) name three symptoms that may be seen due to the type of tumours that develop?
i) genetic condition that causes nerve tumours (neuromas) to dev through NS
NF1 - chromo 17 > neurofibromin (tumour supressor) - auto dom inheritance
ii) Cafe au lait spots, Relative with NF1 (FH), Axillary/inguinal freckles, Bony dysplasia (bowing), Iris hamartoma (yellow spots on iris), Neurofibromas, Glioma of ooptic nerve
need 2/7 to have dx
iii) dx is clinicla and mx is of symptom control
complicats - migraine, renal artery stenosis > HTN, learning disability, visual loss, scoliosis, malignant PNS tumours, GI stromal tumour, brain sumour, leuk
iv) NF2 on chromo 22 > merlin (tumour supresssor)
dev of schwannomas (acoustic neuroma)
v) acoustic neuroma > hearing loss, tinnitus, balance problems
bilateral AN > NF2
TUBEROUS SCLEROSIS
i) what is it? what is the charac feature? name four areas that may be affected
ii) which two genes may be mutated? what does each code for? what do abnormalities in these proteins cause?
iii) name five skin signs? name two neurological features? name two other features?
iv) who does it classically present in?
v) how is it managed?
i) multi system genetic disorder - charac by hamartomas (benign neoplastic growths in tissue)
common affect skin, brain, lungs, heart, kidneys, eyes
ii) mut in TSC1 gene on chromo 9 ? hamartin
mut in TSC2 on chromo 16 > tuberin
control size and growth of cells
iii) ash leaf spots (depig areas of skin), shagreen paatches (thickened dimpled patches of skin), angiofibromas (pig papules on nose and cheeks), subungual fibromata, cafe au lait spots, poliosis (patch of white hair on head, eyebrows)
neurol - epilepsy and learning disability/dev delay
rhabdomyomaas, gliomas, PKD, retinal hamartoma
iv) classical px is a child with epilepsy with skin features of tuberous sclerosis
v) mx by treating complications
MUSCULAR DYSTROPHY
i) what is it an umbrella term for? how can children px? what sign is seen? how do they stand up?
ii) what gene is implicated in DMD on what chromo? what is the role of this protein? which sex is most affectd
iii) what age does it usually come on, in what muscles? what is avg life expec? what drug has been showed to slow muscle progression?
iv) what supplementation may be given? what is a less severe form of DMD?
v) what is myotonic dystrrophy? name four assoc features
i) umbrella for gradual weak and wasting of muscles
children px with proximal muscle weakness
gowers sign - technique used to stand up from lying position (downward dog)
ii) dystrophin on X chromo - X linked recessive > aff boys more
iii) starts around 3-5 years with weakness in pelvic muscles
avg life expec of 25-35
oral steroids can slow progression of weakness
iv) may supplement with creatine
beckers musc dystrophy - dystrrophin but less severe
v) myotonic dys - progressive muscle weak, prolonged muscle contract, cataracts, cardiac arrhy (cant release grip when shaking hand)
