Neurology Flashcards
Define multiple sclerosis
Inflammatory demyelinating disease of the CNS
Relapsing-remitting MS: commonest form: clinical attacks of demyelination, with complete recovery between attacks
Clinically isolated syndrome: single clinical attack (doesn’t qualify as MS)
Primary progressive MS: steady accumulation of disability
Explain the aetiology / risk factors of multiple sclerosis
Unknown. Autoimmune basis with postulated environmental trigger (B12 and thyroid problems?)
Risk Factors: EBV exposure
Summarise the epidemiology of multiple sclerosis
1:1000, females 2x risk; present at 20-40 years
closer the equator, lower prevalence. Probably due to vitamin D
Recognise the presenting symptoms of multiple sclerosis
Varies depending on site
Optic neuritis: unilateral deterioration in visual acuity and colour perception. Pain on movement.
Sensory: pins and needles, numbness, burning
Motor: limb weakness, spasms, stiffness, heaviness
Autonomic: urinary urgency, hesitancy, incontinence, impotence
Psychological: depression, psychosis
Uhthoff’s phenomenon: increase/recurrence of symptoms due to conduction block
Recognise the signs of multiple sclerosis on physical examination
Optic neuritis: impaired visual acuity, loss of coloured vision. Fundoscopy – swollen optic nerve head, optic atrophy
Visual field: central scotoma, field defects
Relative afferent pupillary defect: dilation when light swung to diseased eye
Internuclear ophthalmoplegia: failure of adduction in contralateral eye; lesion of contralateral media longitudinal fasciculus
Sensory: paresthesia
Motor: UMN signs
Cerebellar: limb ataxia
Lhermitte’s phenomenon: electric-shock like sensation in arms and legs – precipitated by neck flexion.
Identify appropriate investigations for multiple sclerosis and interpret the results
Diagnosis on ≥2 CNS lesions
Lumbar Puncture: microscopy to exclude other causes
MRI: plaque detection is highlighted
Evoked potentials: visual/auditory/somatosensory evoked potentials, delayed conduction velocity.
Define myasthenia gravis
Autoimmune disease affecting neuromuscular junction producing skeletal muscle weakness
A chronic autoimmune disorder of the post-synaptic membrane at the neuromuscular junction in skeletal muscle.
Explain the aetiology / risk factors of myasthenia gravis
Impairment of neuromuscular junction transmission, due to auto-antibodies against nicotinic acetylcholine receptor.
Associated with other autoimmune conditions (e.g. pernicious anaemia)
Summarise the epidemiology of myasthenia gravis
8-9:100,000; younger females
Recognise the presenting symptoms of myasthenia gravis
Muscle weakness, worsening with repetitive use
Ocular: drooping eyelids, diplopia
Bulbar: facial weakness, disturbed speech, difficulty smiling/chewing/swallowing
Recognise the signs of myasthenia gravis on physical examination
Generalised, bulbar or ocular signs
Eyes: bilateral ptosis (can be alleviated with ice-packs, improvement of ≥2mm from baseline)
Bulbar: reading aloud provokes dysarthria
Limbs: test power of muscle before and after repeated use
Identify appropriate investigations for myasthenia gravis and interpret the results
Blood: serum AChR ab (+ve in 80%), MuSK ab, CK, TFT
serial pulmonary function tests
Nerve Conduction: repetitive stimulation demonstrating decrements of muscle AP
EMG: may demonstrate ‘jitter’
CT-T/CXR: visualize thymoma in mediastinum
Define Guillain-Barré syndrome
Acute inflammatory demyelinating polyneuropathy
Explain the aetiology / risk factors of Guillain-Barré syndrome
Antibodies react with self-antigen on myelin, following infection. Often no trigger is identified (40%)
Other: bacterial, HIV, herpes viruses, malignancy, post-vaccination
Two-thirds have a history of gastroenteritis or influenza-like illness weeks before onset of neurological symptoms.
Recognise the presenting symptoms of Guillain-Barré syndrome
Progressive over <1 month
• Ascending symmetrical limb weakness (lower>upper)
• Ascending paresthesia
Cranial nerve involvement (dysarthria, dysphagia)
Recognise the signs of Guillain-Barré syndrome on physical examination
General Motor: hypotonia, flaccid paralysis, areflexia
General Sensory: impairment in multiple modalities
Cranial Nerves: facial nerve weakness (LMN pattern)
Type II Resp Failure: important early identification
Autonomic Function: postural BP change
Identify appropriate investigations for Guillain-Barré syndrome and interpret the results
Nerve Conduction: reduced velocity/blocked
Lumbar Puncture: high CSF protein, (cell count and glucose normal)
Blood: anti-ganglioside, LFTs
Spirometry: reduced FVC
Explain the aetiology / risk factors of raised intracranial pressure
• Mass lesions
○ Localised mass lesions: traumatic haematomas (extradural,subdural,intracerebral)
○ Neoplasms (tumour):glioma,meningioma, metastasis.
○ Abscess
○ Focal oedema secondary to trauma, infarction, tumour
• Changes to CSF flow (Disturbance of CSF circulation)
○ obstructivehydrocephalus
○ communicating hydrocephalus
(NOTE that CSP increases in response to trauma to cushion the brain)
• Diffuse intracranial pathology. Diffuse brain oedema or swelling: encephalitis, meningitis, diffuse head injury,subarachnoid haemorrhage, Reye’s syndrome, lead encephalopathy, water intoxication, near drowning.
• Obstruction to major venous sinuses: depressed fractures overlying major venous sinuses,cerebral venous thrombosis.
• Idiopathic intracranial hypertension
Recognise the presenting symptoms of raised intracranial pressure
combination of headache, papilloedema and vomiting generally indicative of ICP
• Headache: more worrying when nocturnal, starting when waking, worse on coughing or moving head and associated with altered mental state. worse on lying down
• Early changes in mental state include lethargy, irritability, slow decision making and abnormal social behaviour. confusionabout time, then location and people as the pressure worsens.
• Vomiting (in early stages without nausea), which can progress to projectile with rising ICP.
• Pupillary changes, including irregularity or dilatation in one eye. Double vision.
• Unilateral ptosis or third and sixth nerve palsies. In later stages, ophthalmoplegia and loss of vestibulo-ocular reflexes.
• Late signs include motor changes (hemiparesis), raised blood pressure, widened pulse pressure and slow irregular pulse.
Recognise the signs of raised intracranial pressure on physical examination
hypertension, bradycardia, papilloedema
- Pupillary changes, including irregularity or dilatation in one eye. Double vision.
- Unilateral ptosis or third and sixth nerve palsies. In later stages, ophthalmoplegia and loss of vestibulo-ocular reflexes.
- Late signs include motor changes (hemiparesis), raised blood pressure, widened pulse pressure and slow irregular pulse.
- Fundoscopy shows blurring of the disc margins, loss of venous pulsations, disc hyperaemia and flame-shaped haemorrhages. In later stages, obscured disc margins and retinal haemorrhages may be seen.
Identify appropriate investigations for raised intracranial pressure and interpret the results
MRI head
CT head
Check and monitor blood glucose, renal function, electrolytes and osmolality (FBC, U&Es, CRP)
Intraventricular fluid filled catheter transducer systems represent the “gold standard” for measuring ICP
Define central nervous system (CNS) tumours
Tumours deriving from the Central Nervous System (meninges)
meningioma
Primary tumours arising from any of the brain tissue types.
Explain the aetiology / risk factors of central nervous system (CNS) tumours
Unknown cause Risk factors: • radiotherapy • genetic predisposition (family history of neurofibromatosis type 2 [NF2]) • hormones: endogenous and exogenous • head trauma
Summarise the epidemiology of central nervous system (CNS) tumours
2nd most common childhood cancers
Annual incidence of primary tumours 5–9 in 100000. Two peaks of incidence (children and the elderly).
Recognise the presenting symptoms of central nervous system (CNS) tumours
Seizures, neck tilts/squint, unexplained nausea and vomiting, weakness/clumsiness, early/delayed puberty, sleep apnoea, headache, pain, personality changes • headache • neurological deficit • seizure • family history of NF2
Recognise the signs of central nervous system (CNS) tumours on physical examination
CNS signs of location of tumour (weakness, lack of sensation etc.)
Visual problems, depending on tumour location
Papilloedema/false localizing signs (increased ICP).
Focal neurological deficits (visual field defects, dysphasia, agnosia, hemianopia, hemiparesis, ataxia, personality change).
Identify appropriate investigations for central nervous system (CNS) tumours and interpret the results
MRI head or spine without and with contrast
CT head or spine
Define hydrocephalus
Enlargement of the cerebral ventricular system.
Obstructive and non-obstructive pathologies.
Hydrocephalus ex vacuo is a term for compensatory hydrocephalus in response to atrophy
Explain the aetiology / risk factors of hydrocephalus
Abnormal accumulation of CSF in ventricles
Impaired outflow of CSF (obstructive/non- communicating):
• Lesions of third ventricle/fourth ventricle/aqueduct
• Posterior fossa lesions
• Cerebral aqueduct stenosis
Impaired CSF resorption in subarachnoid villi (non-obstructive/communicating):
• Tumours
• Meningitis
Normal pressure hydrocephalus:
idiopathic, chronic enlargement => long white matter
tract damage => cognitive and gait decline
Summarise the epidemiology of hydrocephalus
Bimodal age distribution; congenital in young and tumours in elderly
Recognise the presenting symptoms of hydrocephalus
Obstructive: acuute drop in consciousness, diplopia
NPH: chronic cognitive decline, falls and urinary incontinence.
Recognise the signs of hydrocephalus on physical examination
Obstructive: impaired GCS, papilloedema, VI nerve palsy
NPH (triad): levodopa-unresponsive gait apraxia with or without cognitive impairment or urinary symptoms
Identify appropriate investigations for hydrocephalus and interpret the results
CT head: 1st line investigation
CSF: ventricular drains or lumbar puncture
Lumbar puncture: contra-indicated in obstructive hydrocephalus (can cause tonsillar herniation and death)
Define Bell’s palsy
Idiopathic lower motor neuron facial nerve (VII) palsy
Explain the aetiology / risk factors of Bell’s palsy
15-40:100,000; equal in M & F. risk in pregnancy and diabetes.
Summarise the epidemiology of Bell’s palsy
Idiopathic. 60% preceded by upper respiratory tract infection – suggesting viral/post-viral aetiology
Recognise the presenting symptoms of Bell’s palsy
Pre-auricular pain; followed by acute unilateral facial droop (max severity at 1-2 days) (includes the forehead)
50% - facial/neck/ear pain or numbness
Hypersensitive sound (stapedius paralysis); hyposensitive taste; tearing/drying of exposed eye
Sometimeshypersensitivityto loud noises and a loss of taste sensation on the anterior ⅔ of the tongue.
Recognise the signs of Bell’s palsy on physical examination
LMN weakness of facial muscles (does not spare upper face as in UMN)
Bell’s phenomenon: eyeball rolls up, but eye remains open when trying to close
Absence of thenasolabial fold. Drooping of the eyelidand mouth. In some people, dryness of affected eye or mouth.
Examine ear to exclude other causes (otitis media/herpes zoster infection)
Identify appropriate investigations for Bell’s palsy and interpret the results
Only to exclude other causes (herpes zoster serology)
Electromyography (EMG): local axonal conduction block in facial canal
Generate a management plan for Bell’s palsy
Protect cornea with glasses/patches and artificial tears
High-dose corticosteroids (prednisolone) within 72h
Surgery: lateral tarsorrhaphy, if imminent or established corneal damage
Identify the possible complications of Bell’s palsy and its management
Corneal ulcers, eye infection. Aberrant reinnervation (blinking = contraction of angle of mouth)
Summarise the prognosis for patients with Bell’s palsy
85-90% recover function within 7-12 days, with or without treatment
Define Huntington’s disease
Autosomal dominant trinucleotide repeat; progressive dementia and chorea, at middle age
a slowly progressive, neurodegenerative disorder characterised by chorea, incoordination, cognitive decline, personality changes, and psychiatric symptoms, culminating in immobility, mutism, and inanition
Explain the aetiology / risk factors of Huntington’s disease
Chromosome 4p, gene for huntingtin protein – repeat (CAG) expansion; exhibits anticipation
RF: FHx
Summarise the epidemiology of Huntington’s disease
8:100,000; onset 30-50 yrs (It characteristically appears in mid-adult life but can occur at any age), affects men and women equally
Recognise the presenting symptoms of Huntington’s disease
FHx
Insidious onset: fidgeting, clumsiness, dyskinetic movements, grunting and dysarthria. In late disease – rigidity, akinetic and bed bound
Cognitive, behavioural and emotional changes – leading to dementia
Drug history (cocaine and anti-psychotics)
Recognise the signs of Huntington’s disease on physical examination
Chorea and dysarthria
Slow voluntary saccades, supranuclear gaze restriction, parkinsonism, dystonia
MMSE – cognitive and emotional deficits
Identify appropriate investigations for Huntington’s disease and interpret the results
Genetic: diagnostic if >39 CAG repeats
Imaging: Brain MRI/CT showing symmetrical atrophy of striatum (caudate nuclei) and butterfly dilation of lateral ventricles
Bloods: exclude other pathology
Define motor neurone disease
Explain the aetiology / risk factors of motor neurone disease
Summarise the epidemiology of motor neurone disease
Recognise the presenting symptoms of motor neurone disease
Recognise the signs of motor neurone disease on physical examination
Identify appropriate investigations for motor neurone disease and interpret the results
a
Define Parkinson’s disease
Neurodegenerative disorder of the dopaminergic neurons of the substantia nigra, characterized by bradykinesia, rigidity, tremor and postural instability
Explain the aetiology / risk factors of Parkinson’s disease
alpha synuclein misfolds and accumulates in cells. Eventually cells lose there ability to degrade such protein and so they end up packed away inside the cell to minimise damage.
Sporadic and idiopathic: Environmental toxins and oxidative stress have been proposed Secondary - Neuroleptic therapy - Vascular insults (e.g. schizophrenia) - MPTP toxin (heroin) - Post-encephalitis - Repeated head injury Familial forms (mutations): present earlier
Pathophysiology: degeneration of dopaminergic neurons from substantia nigra to striatum.
Symptoms after 70% neuron loss.
RF: age, male, living in countryside
Summarise the epidemiology of Parkinson’s disease
Very common, 1-2% of >60yrs; 20:100,000; onset is 55-60
usually effects men more, and farmers/those living in the countryside. Biggest RF is age. Some genetic component.
Recognise the presenting symptoms of Parkinson’s disease
Insidious onset of: tremor at rest (3-5 Hz), stiffness, difficulty initiating movements, frequent falls, micrographia, insomnia, bradyphenia
Recognise the signs of Parkinson’s disease on physical examination
Tremor: classically pill rolling in hands at 3-5Hz; decreased on action or flexion; asymmetrical (starts unilaterally)
Rigidity: enhanced by distraction
Gait: stopped, shuffling, small-stepped gait, reduced arm swinging, freezing
Postural Instability: falls easily
Other: frontalis overactivation, hypomimia, hypophonia, impaired olfaction, up-gaze impairment
Psychiatric: depression, cognitive problems and dementia at late stage
Identify appropriate investigations for Parkinson’s disease and interpret the results
Diagnosis is clinical
Levodopa trial: timed walking and clinical assessment after levodopa.
Antiemetic may be needed (not used often anymore)
Blood: serum ceruloplasmin (excludes Wilson’s disease)
CT/MRI Brain: for exclusion of other causes (e.g. hydrocephalus) - looks normal for PD
Define neurofibromatosis
Autosomal dominant genetic disorder affecting cells of neural crest origin, resulting is development of multiple neurocutaneous tumours.
Type 1: peripheral and spinal neurofibromas, multiple café au lait spots, freckling, optic nerve glioma, Lish nodules, skeletal deformities, phaeochromocytomas, renal artery stenosis
Type 2: schwannomas, peripheral/spinal schwannomas, meningiomas, gliomas, cataracts.
Explain the aetiology / risk factors of neurofibromatosis
Mutations in tumour suppressor gene NF1 and NF2
Type 1: mutations in NF1 (chr17) for neurofibromin – excessive activity of proto-oncogene p21-ras
Type 2: mutations in NF2 (chr22) for merlin
Summarise the epidemiology of neurofibromatosis
1:3000 for Type 1, 1:40,000 Type 2.
Recognise the presenting symptoms of neurofibromatosis
Positive family history
Type 1: skin lesions, learning difficulties, headaches, disturbed vision, precocious puberty
Type 2: hearing loss, tinnitus, balance problems, headache, facial pain/numbness
Recognise the signs of neurofibromatosis on physical examination
Type 1: >5 café au lait macules of >5mm, neurofibromas, freckling in armpit/groin, lish nodules, spinal scoliosis
Type 2: few/no skin lesions, sensorineural deafness, facial nerve palsy
Identify appropriate investigations for neurofibromatosis and interpret the results
Ophthalmological assessment
Audiometry
MRI Brain + Spinal Cord: vestibular schwannomas, meningiomas, nerve root neurofibromas
Skull X-Ray: sphenoid dysplasia in type 1
Genetic testing: difficult as NF1 gene is very long
Define tension headache
Most common type of headache, accounting for 90% of headaches
Explain the aetiology / risk factors of tension headache
Various precipitating factors
- Stress: in afternoon, after long hours
- Sleep deprivation
- Uncomfortable position
- Irregular meal time
- Eyestrain
- Muscle tension around head and neck (e.g. teeth clenching)
Summarise the epidemiology of tension headache
1:6, more common in women.
Recognise the presenting symptoms of tension headache
‘Tight band around the head’
Constant pressure, as if squeezed in a vice. Bilateral pain, mild to moderate.
Can be episodic (<15 days a month) or chronic (>15 days a month, for 6 months). Doesn’t worsen with routine physical activity.
Typically, last 4-6 hours
Recognise the signs of tension headache on physical examination
None
Identify appropriate investigations for tension headache and interpret the results
Clinical diagnosis
Bloods: FBC, U&Es, CRP
CT sinus, MRI brain, lumbar puncture
Generate a management plan for tension headache
Drink water to confirm no dehydration; stress reduction
Medical:
• simple analgesia : Aspirin or ibuprofen or Paracetamol
chronic tension-type:
• acupuncture if available
• Amitriptylline is the agent of choice for prophylaxis of chronic tension-type headache.
Identify the possible complications of tension headache and its management
Impact on daily life
Summarise the prognosis for patients with tension headache
Chronic issue
Define migraine
Severe episodic headache, with possible focal neurological symptoms. Associated with systemic disturbance and sub classified as classical or common.
Explain the aetiology / risk factors of migraine
Precise pathophysiology is poorly understood
Triggers and Risk Factors: stress, lack of sleep, contraceptive, certain foods (chocolate, cheese)
Summarise the epidemiology of migraine
6% in males, 15-20% in females. Onset – adolescence
Recognise the presenting symptoms of migraine
Headache: pulsating, bilateral (30-40%), 4-72hrs. episodic attacks
Associated: Nausea, vomiting, photophobia, phonophobia, aura (flashing lights, spots etc.)
Recognise the signs of migraine on physical examination
No specific physical findings.
Identify appropriate investigations for migraine and interpret the results
Mental state, neurology, fundoscopy, sinuses, cervical spine, general exam to exclude other causes
Diagnosis based on history. Investigations to exclude other causes
Bloods: FBC, ESR
CT/MRI: if suspect secondary headache
Lumbar Puncture: if meningitis suspected (do not perform until SOL excluded)
Generate a management plan for migraine
Medical: beware of analgesia overuse
Acute: NSAIDs, paracetamol, codeine, antiemetics. 5-HT1 agonists (sumatriptan)
Prophylaxis if >2/month: β blockers, sodium valproate, CCBs (flunarizine)
Advice: regular meals and sleep, caffeine restriction, avoid triggers
Identify the possible complications of migraine and its management
Disruption of daily activities. Can progress into analgesia-overuse headaches
Summarise the prognosis for patients with migraine
Usually chronic; majority can be well managed
Define cluster headache
Recurrent severe headaches, typically around the eye
Attack of severe pain localised to the unilateral orbital, supra-orbital, and/or temporal areas; lasts from 15 minutes to 3 hours.
Attacks occur at the same time period for several weeks (the cluster period); accompanied by ipsilateral autonomic signs.
Explain the aetiology / risk factors of cluster headache
Genetic: autosomal dominant pattern
Superficial temporal artery smooth muscle hyper reactivity to 5HT
Relation to hypothalamus dysfunction is suggested
Pathophysiology is thought to result from hypothalamic activation with secondary trigeminal and autonomic activation.
Risk factors: male, FHx, head injury, cigarette smoking, heavy drinking
Summarise the epidemiology of cluster headache
Recognise the presenting symptoms of cluster headache
0.2% of population, 2.5-3.5x in M, 20-50 yrs; 1/5 report onset as 10-19yrs
Recognise the presenting symptoms of cluster headache
Rapid-onset excruciating pain around one eye; strictly unilateral, lasting 15-180 minutes, once or twice a day, often nocturnally. Blood-shot, lid swelled eyes; lacrimation; rhinorrhoea; partial Horner’s syndrome.
Seasonal - Lasts 4-12 wks, then pain-free for months before next cluster.
Recognise the signs of cluster headache on physical examination
Lacrimation conjunctival injection nasal congestion rhinorrhoea partial Horner's syndrome (ptosis and miosis).
Identify appropriate investigations for cluster headache and interpret the results
(all should be normal)
• brain CT scan or MRI - to eliminate secondary causes
• ESR - to exclude GCA
• pituitary function tests - to exclude secondary causes as a result of pituitary adenoma
Define trigeminal neuralgia
Chronic pain disorder of the trigeminal nerve
Typical: severe, sudden, shock-like pain; seconds to minutes when touching the face
And/or Atypical: constant burning pain, less severe
Explain the aetiology / risk factors of trigeminal neuralgia
Enlarged/lengthened blood vessel (usually superior cerebellar) compressing microvasculature of trigeminal => damage myelin => hyperactivity
Risk factors: 3-4% of people with MS, age, female. hypertension
Summarise the epidemiology of trigeminal neuralgia
1:8,000; onset at 50+ yrs, male, (women>men in Asians)
Recognise the presenting symptoms of trigeminal neuralgia
Episodic, paroxysmal, intense pain along divisions of the trigeminal (most commonly maxillary and mandibular), usually unilateral
Seconds to minutes attack, repeated for hours in short intervals.
And/or Atypical: constant burning pain, less severe
Triggers: any touch to the face, face washing, eating, talking, brushing teeth
Remissions can last months/years
Recognise the signs of trigeminal neuralgia on physical examination
Tenderness on side of face (usually unilateral) - pattern is important
Identify appropriate investigations for trigeminal neuralgia and interpret the results
Clinical diagnosis Bloods: FBC, U&Es, CRP MRI: to exclude other causes Intra-oral X-ray Trigeminal reflex testing
