Neuro Flashcards
Define haemorrhagic stroke
Rapid onset neurological deficit lasting over 24 hours caused by bleed in blood vessel in/around the brain, leading to infarction.
Two types: intracerebral haemorrhage and subarachnoid haemorrhage
Describe the epidemiology of haemorrhagic strokes
15% of strokes
Describe the aetiology for haemorrhagic stroke
Intracerebral haemorrhage, subarachnoid haemorrhage
Describe the risk factors for haemorrhagic strokes
Hypertension, age, alcohol, smoking, diabetes, anticoagulation, thrombolysis
Describe the pathophysiology for haemorrhagic stroke
Intracerebral haemorrhage: rupture of blood vessel within brain leading to oxygen deprivation and infarction. Pooling blood increased intracranial pressure
Subarachnoid haemorrhage: spontaneous bleeding into subarachnoid space between arachnoid mater and pia mater
What are the key presentations for haemorrhagic stroke
Symptoms last over 24 hours. Weakness of limbs, facial weakness, dysphagia (speech disturbance), visual or sensory loss. Raised ICP. Severe headache.
Describe the clinical manifestations for haemorrhagic strokes
Symptoms: Severe headache, N+V, syncope, loss of consciousness, meningism, coma
What is the gold standard investigation for haemorrhagic stroke
Non contrast head CT (distinguishes haemorrhagic from ischaemic stroke, shows site of haemorrhage) hyperdense blood on CT
Describe the first line investigations for haemorrhagic stroke
1st line: Urgent non contrast head CT. Blood tests: FBC (look for polycythaemia, thrombocytopenia), glucose, ESR (raised in vasculitis), U&Es, cholesterol, lipid profile, INR (if on warfarin), prothrombin time. ECG (atrial fibrillation, myocardial infarction)
Other: Glasgow coma scale (eyes, verbal, motor. Max 15/15. 8/15 requires securing the airway
What are the differential diagnosis for haemorrhagic stroke
TIA, ischaemic stroke, complicated migraine, hypoglycaemia, hypertensive encephalopathy
Describe the management for haemorrhagic stroke
1st line – confirm haemorrhagic on CT then neurosurgery referral.
Urgent lowering of blood pressure, IV mannitol to lower ICP, anticoagulation reversal
Describe the complications for haemorrhagic stroke
Infection, DVT, PE. seizures
Describe the prognosis for haemorrhagic strokes
40% mortality
Define ischaemic stroke
Rapid onset neurological deficit lasting over 24 hours due to a blood clot blocking blood supply to the brain, causing ischaemia and infarction.
Describe the epidemiology for ischaemic strokes
80% of strokes, older people, males, black/asian
Describe the aetiology for ischaemic strokes
Small vessel occlusion by thrombus, atherothromboembolism (e.g., from carotid artery), cardioembolism (from atrial fibrillation, MI, valve disease, infective endocarditis)
hyperviscosity, hypoperfusion, vasculitis, fat emboli from long bone fracture, venous sinus thrombus
Describe the risk factors for ischaemic strokes
Age, male, hypertension, smoking, diabetes, past TIA, hyperlipidaemia, heart disease (IHD, atrial fib, valve disease), combined oral contraceptive pill, peripheral arterial disease, clotting disorder
Describe the pathophysiology of ischaemic strokes
Blood vessel to/in brain is occluded by a clot causing ischaemia and infarction. Infarcted area dies causing focal neurological symptoms. Infarcted area is surrounded by oedema which can regain function with neurological recovery.
What are the key presentations for ischaemic strokes
Cerebral infarcts: Contralateral sensory loss, contralateral hemiplegia (initially flaccid, becomes spastic), UMN facial weakness (forehead sparing), dysphasia (speech), homonymous hemianopia, visuo-spatial deficit
Describe the clinical manifestations for ischaemic strokes
Signs: Brainstem infarcts: quadriplegia, facial numbness and paralysis, vision disturbances, dysarthria and speech impairment, vertigo, N+V
Cerebellar infarcts: palatal paralysis and diminished gag reflex, locked in syndrome, altered consciousness, coma
Lacunar infarcts (small perforating artery affecting internal capsule, basal ganglia, thalamus, pons): one of sensory loss, unilateral weakness, ataxic hemiparesis, dysarthria (motor speech problems)
Symptoms: Headache, nausea and vomiting, vertigo, decreased consciousness
What is the gold standard investigation for ischaemic stroke
Non-contrast CT scan (distinguishes ischaemic from haemorrhagic, shows site of infarct, identifies conditions mimicking a stroke)
Describe the first line investigations for ischaemic stroke
1st line: Urgent head CT/MRI. Blood tests: FBC (look for polycythaemia, thrombocytopenia), glucose, ESR (raised in vasculitis), U&Es, cholesterol, lipid profile, INR (if on warfarin), prothrombin time. ECG (atrial fibrillation, myocardial infarction)
Other: Diffusion weighted MRI scan, carotid ultrasound
What are the differential diagnosis for ischaemic strokes
TIA, intracerebral haemorrhage, hypoglycaemia, complicated migraine, hypertensive encephalopathy
Describe the first line management for ischaemic strokes
1st line – haemorrhagic must be excluded. 300mg aspirin immediately after CT. Thrombolysis must happen within 4.5hours of symptoms: IV alteplase.
Other option: mechanical thrombectomy (endovascular removal of thrombus)
Antiplatelet therapy: aspirin 300mg daily for 2 weeks, then clopidogrel 75mg daily long term
Prophylaxis: atorvastatin, ramipril, anticoagulation (e.g., warfarin) for atrial fibrillation, carotid endarterectomy
Describe the complications for ischaemic stroke
Deep vein thrombosis, haemorrhagic transformation of ischaemic stroke
Describe the prognosis for ischaemic stroke
25% die within 1 year
Define transient ischaemic attack
Sudden onset, brief neurological deficit due to temporary, focal cerebral ischemia, without infarction. Last less than 24 hours, symptoms usually last 10-15mins.
Describe the epidemiology for TIA
Males, black people (predisposition to hypertension and atherosclerosis), 90% carotid artery (anterior circulation), 10% vertebral artery (posterior circulation)
Describe the aetiology for TIA
Atherothromboembolism from carotid artery (main cause – listen for carotid bruit), cardioembolism (in atrial fibrillation, after MI, valve disease), hyperviscosity, hypoperfusion
Describe the risk factors for TIA
Age, hypertension, smoking, diabetes, hyperlipidaemia, heart disease (AF), combined oral contraceptive pill, peripheral arterial disease, clotting disorder, vasculitis
Describe the pathophysiology for TIA
Temporary, focal cerebral ischaemia causing lack of oxygen and nutrients to the brain, without infarction. No irreversible cell death.
What are the key presentations for TIA
Symptoms are maximal at onset, lasts 10-15mins.
Amaurosis fugax (transient unilateral sudden vision loss due to retinal artery occlusion), aphasia (speech), hemiparesis (one-sided weakness/paralysis), hemisensory loss, hemianopia visual loss
Describe the clinical manifestations for TIA
Signs: ACA: weak, numb contralateral leg
MCA: weak numb contralateral side of body, face drooping with forehead spared, aphasia
PCA: vision loss (contralateral homonymous hemianopia with macular sparing)
Vertebral: cerebellar syndrome (DANISH – dysdiadochokinesis (can’t perform rapid alternating movements), ataxia, nystagmus, intention tremor, slurred speech, hypotonia)
Symptoms: Syncope, dizziness, ataxia, vertigo
What is the gold standard investigation for TIA
Symptoms 10-15mins, <24 hours + no infarction
Describe the first line investigations for TIA
Bloods: FBC (look for polycythaemia), glucose, ESR (raised in vasculitis), U&Es, cholesterol, INR (if on warfarin), ECG, lipid profile, prothrombin time
What are the differential diagnosis for TIA
Stroke, hypoglycaemia, migraine aura, focal epilepsy, vasculitis
Describe the management for TIA
1st line – immediate loading dose: aspirin 300mg (antiplatelet therapy). refer to specialist within 24hr of symptoms.
Secondary prevention: clopidogrel 75mg daily (antiplatelet therapy), atorvastatin 80mg. Anticoagulation (e.g., warfarin) for atrial fibrillation patients. Carotid endarterectomy if >70% stenosis, reduces risk of TIA/stroke.
Control CV risk factors: BP control, smoking cessation, statin, no driving for 1 month
Describe the monitoring for TIA
ABCD2 risk of stroke after TIA (Age >60. BP. Clinical features: unilateral weakness, speech problems. Duration of TIA. Diabetes mellitus). FAST
What are the complications for TIA
Stroke, MI
Describe the prognosis for TIA
Without intervention, 1/12 will have a stroke within a week
Define subarachnoid haemorrhage
Type of haemorrhagic stroke. Spontaneous bleeding into subarachnoid space between arachnoid mater and pia mater. Can be catastrophic
Describe the epidemiology for subarachnoid haemorrhage
Age 35-65. Black. Female. 5% of strokes.
Describe the aetiology for subarachnoid haemorrhage
Traumatic injury. Idiopathic
Aneurysmal rupture – berry aneurysms (70-80% SAH causes, mc anterior communicating/ACA)
Arteriovenous malformations (15% SAH causes) – abnormal tangles of blood vessels connecting arteries and veins.
Describe the risk factors for subarachnoid haemorrhage
Hypertension, known aneurysm, previous aneurysmal subarachnoid haemorrhage, smoking, alcohol, FHx, bleeding disorders.
Associated with berry aneurysm: polycystic kidney disease, coarctation of aorta, Ehlers-Danlos and Marfan’s syndrome
Describe the pathophysiology for subarachnoid haemorrhage
Subarachnoid space contains circle of Willis arteries (ACA, MCA, PCA).
* Tissue ischaemia: less blood can reach tissue due to bleeding loss, less oxygen and nutrients can reach tissue causing cell death.
* Raised ICP: fast flowing arterial blood pumped into subarachnoid space
* Space-occupying lesion puts pressure on brain
* Blood irritates meninges causes inflammation of meninges (meningitis symptoms). Can obstruct CSF outflow – hydrocephalus
* Vasospasm: bleeding irritates other vessels, ischaemic injury
What are the key presentations for subarachnoid haemorrhages
Sudden onset excruciating headache (‘thunderclap’, typically occipital, worst headache of your life). Nausea, vomiting, collapse, loss of consciousness, neck stiffness. Sentinel headache (before main rupture)
Describe the clinical manifestations for subarachnoid haemorrhage
Signs: Meninges inflammation: neck stiffness, muscle aches, Kernig sign (pain on passive extension of leg when the knee if flexed), Brudzinski sign (passive flexion of the neck causes hip and knee to flex)
Retinal, subhyaloid and vitreous bleeds. Hypertension. Focal neurological signs, e.g., 3rd nerve palsy
Symptoms: N+V, collapse, loss of consciousness, seizures, vision changes, photophobia, coma.
Glasgow coma scale: eyes 4, verbal 5, motor 6. 3/15 = unresponsive. 8/15 = comatose. 15/15 = normal.
What is the gold standard investigation for subarachnoid haemorrhage
Urgent brain CT (subarachnoid and/or intraventricular blood, hyperattenuation in subarachnoid space, star shape sign)
What are the first line investigations for subarachnoid haemorrhage
1st line: Urgent brain CT (subarachnoid and/or intraventricular blood, star shape sign). If positive CT SAH > CT angiography. If negative CT SAH > lumbar puncture
FBC (leucocytosis), U&E (hyponatraemia), clotting profile, glucose (raised), ECG (arrhythmias, prolonged QT, ST/T wave abnormalities)
Other: Lumbar puncture: only if normal ICP to prevent coning. If -ve CT but strong suspicion of SAH. After 12 hours. Xanthochromia confirms SAH – yellowish CSF filled with breakdown products of RBCs
MRI/CT angiography (establish source of bleeding)
What are the differential diagnosis for subarachnoid haemorrhage
Migraine, cluster headache, meningitis, intracerebral haemorrhage, carotid/vertebral artery dissection, arteriovenous malformation
Describe the management for subarachnoid haemorrhage
Once SAH is confirmed, immediate neurosurgical referral (endovascular coiling or surgical clipping if aneurysm).
IV fluids (maintain cerebral perfusion), Nimodipine (CCB – reduces vasospasm, reduces cerebral ischaemia)
Describe the complications for subarachnoid haemorrhage
Rebleeding, hyponatraemia, neuropsychiatric problems (mood change, memory loss), hydrocephalus
Describe the prognosis for subarachnoid haemorrhage
50% die straight away. 10-20% more die from rebleeding within weeks. Half the survivors are left with significant disability.
Define subdural haemorrhage
Bleeding into subdural space between dura mater and arachnoid mater due to rupture of a bridging vein
Describe the epidemiology for subdural haemorrhage
Babies (shaking baby syndrome), elderly, alcoholics
Describe the aetiology for subdural haemorrhage
Head trauma, shearing deceleration injuries, dural metastases, brain atrophy, abused children (shaken baby syndrome)
Describe the risk factors for subdural haemorrhage
Brain atrophy (veins more susceptible to rupture) – dementia, elderly, alcoholics. Epileptics. Anticoagulants.
Describe the pathophysiology for subdural haemorrhage
Subdural space contains bridging veins which run from cortex to sinuses. Bleeding from bridging vein forms a haematoma (solid swelling of clotted blood), then bleeding stops.
Weeks/months later, haematoma starts to autolyse causing a massive increase in oncotic and osmotic pressure. Water sucked in, haematoma enlarges. This causes a gradual rise in ICP. Midline strictures shifted away from side of clot > tentorial herniation, coning
What are the key presentations for subdural haemorrhage
Gradual onset with latent period. Headache, confusion, fluctuating consciousness, drowsiness, seizures. Signs of raised ICP: Cushing triad – bradycardia, increased pulse pressure, irregular breathing + fluctuating GCS.
Describe the clinical manifestations for subdural haemorrhage
Signs: Localising neurological signs: unequal pupils, hemiparesis, occur late often 1> month after injury
Symptoms: Physical and intellectual slowing, personality change, memory loss, unsteadiness, headache, confusion, fluctuating consciousness, drowsiness
What is the gold standard investigation for subdural haemorrhage
Brain CT scan (shows haematoma, crescent shaped banana – crosses suture lines, unilateral. Shows midline shift).
Acute = hyperdense (bright blood)
Subacute = isodense
Chronic (late) = hypodense (darker than brain)
Describe the first line investigations for subdural haemorrhages
1st line: Brain CT scan (shows haematoma, crescent shaped banana – crosses suture lines, unilateral. Shows midline shift)
Other: MRI scan
What are the differential diagnosis for subdural haemorrhage
Epidural haematoma, intracerebral haematoma, stroke, seizure
Describe the management for subdural haemorrhage
Surgery – depending on clot size, chronicity, and clinical picture. Clot evacuation, Craniotomy, Burr hole washout.
IV mannitol to reduce ICP. Reverse clotting abnormalities. Antiepileptics (phenytoin). Address cause of trauma.
Describe the complications for subdural haemorrhage
Brainstem herniation, respiratory arrest, neurological deficits, coma, epilepsy
Define extradural haemorrhage
Bleeding into extradural space between dura mater and skull bone usually after trauma to temple
Describe the epidemiology for extradural haemorrhage
Young people, males
Describe the aetiology for extradural haemorrhage
Trauma to temple – fracture to temporal/parietal bone, rupture of middle meningeal artery.
Also due to dural venous sinus tear.
Describe the risk factors for extradural haemorrhage
Head trauma, young people (as you age, dura is more firmly adhered to skull)
Describe the pathophysiology for extradural haemorrhage
Extradural space contains middle meningeal artery
After lucid interval, rapid rise in ICP causing pressure on brain, midline shift, tentorial herniation and coning.
What are the key presentations for extradural haemorrhage
Initial head trauma to temple/pterion. Short episode of drowsiness and unconsciousness. Lucid interval (can be hours-days). Then sudden, rapid deterioration.
Rapidly declining GCS, increasingly severe headache, vomiting, seizures
Describe the clinical manifestations for extradural haemorrhage
Signs: Hemiparesis, UMN signs, ipsilateral pupil dilation, bilateral limb weakness, coma, deep irregular breathing due to coning (brainstem compression), bradycardia, raised BP.
Symptoms: Headache, decreased consciousness, seizures, confusion, limb weakness
What is the gold standard investigation for extradural haemorrhage
Brain CT scan (shows haematoma – biconvex lens-shaped lemon, doesn’t cross suture lines, hyperdense, unilateral. Shows midline drift.)
Describe the first line investigations for extradural haemorrhage
Brain CT scan (shows haematoma – biconvex lens-shaped lemon, doesn’t cross suture lines, hyperdense, unilateral. Shows midline drift.)
Skull x-ray (fractures)
What are the differential diagnosis for extradural haemorrhage
Subdural haematoma, intracranial haematoma, subarachnoid haemorrhage, migraine
Describe the management for extradural haemorrhage
1st line – urgent surgery (clot evacuation, ligation of bleeding vessel, burr hole craniotomy)
IV mannitol to reduce ICP. Airway care (intubation, ventilation)
Describe the complications for extradural haemorrhage
Brainstem compression, respiratory arrest, infection, cognitive impairment, death
Describe the prognosis for extradural haemorrhage
15% mortality
Define intracerebral haemorrhage
Type of haemorrhagic stroke. Sudden bleeding into brain tissue due to rupture of a blood vessel within the brain
Describe the epidemiology for intracerebral haemorrhage
10% of strokes
Describe the aetiology for intracerebral haemorrhages
Hypertension (stiff and brittle vessels, prone to rupture. Microaneurysms)
Secondary to ischaemic stroke (bleeding after reperfusion)
Head trauma, arteriovenous malformations, vasculitis, brain tumours, carotid artery dissection
Describe the risk factors for intracerebral haemorrhages
Hypertension, age, alcohol, smoking, diabetes, anticoagulation, thrombolysis
Describe the pathophysiology for intracerebral haemorrhages
Rupture of blood vessel within the brain leading to oxygen deprivation and infarction. Pooling of blood causes raised intracranial pressure.
Raised ICP puts pressure on skull, brain and blood vessels causing tissue death. Raised ICP causes CSF herniation (hydrocephalus), midline shift, tentorial herniation (movement of tissue from one intracranial compartment to another), coning (brainstem compression)
What are the key presentations for intracerebral haemorrhages
Symptoms last over 24 hours. Sudden onset severe headache. Weakness of limbs, facial weakness, dysphagia (speech disturbance), visual or sensory loss. Raised ICP.
Describe the clinical manifestations for intracerebral haemorrhages
Symptoms: Severe headache, N+V, syncope, loss of consciousness, vertigo, meningism, coma
What is the gold standard investigation for intracerebral haemorrhage
Non contrast head CT (distinguishes haemorrhagic from ischaemic stroke, shows site of haemorrhage) hyperdense blood on CT
Describe the first line investigations for intracerebral haemorrhages
1st line: Urgent non contrast head CT. Blood tests: FBC (look for polycythaemia, thrombocytopenia), glucose, ESR (raised in vasculitis), U&Es, cholesterol, lipid profile, INR (if on warfarin), prothrombin time. ECG (atrial fibrillation, myocardial infarction)
Other: Glasgow coma scale (eyes, verbal, motor. Max 15/15. 8/15 requires securing the airway)
What are the differential diagnosis for intracerebral haemorrhages
TIA, ischaemic stroke, complicated migraine, hypoglycaemia, hypertensive encephalopathy
Describe the management for intracerebral haemorrhages
1st line – confirm haemorrhagic on CT then neurosurgery referral
Urgent lowering of blood pressure, IV mannitol to lower ICP, urgent anticoagulation reversal (clotting factor replacement)
Describe the complications for intracerebral haemorrhages
Infection, deep vein thrombosis, pulmonary embolism, seizures
Describe the prognosis for intracerebral haemorrhages
50% mortality
Define epilepsy focal seizures
Epilepsy is an umbrella term for tendency to have seizures. Seizures are transient episodes of abnormal electrical activity in the brain. Types of focal seizure: simple partial, complex partial, partial seizure with secondary generalisation.
Criteria, one of:
At least 2 unprovoked seizures occurring more than 24hrs apart
One unprovoked seizure and a probability of future seizures (considered >60% risk in 10yrs)
Diagnosis of an epileptic syndrome
Describe the epidemiology for focal seizures
Onset at extremes of life <20yrs or >60yrs, partial focal seizures (60% of seizures)
Describe the aetiology for focal seizures
2/3 idiopathic (often familial link), cortical scarring (trauma, cerebrovascular disease, infection), tumours, strokes, Alzheimer’s, alcohol withdrawal (delirium tremens)
Describe the risk factors for focal seizures
Family history, premature babies, abnormal cerebral blood vessels, drugs e.g., cocaine
Describe the pathophysiology for focal seizures
Normal balance between GABA (inhibitory) and glutamate (excitatory) shifts towards glutamate therefore increased glutamate stimulation and GABA inhibition causes increased excitation.
Components of epileptic seizure:
1. Prodrome: precedes the seizure, usually hours/days, weird feeling e.g., mood, behaviour.
2. Aura: feeling before seizure starts. Strange feeling in gut, déjà vu, automatisms (lip smacking, rapid blinking), strange smells, flashing lights. Often implies partial seizure.
3. Post-ictal: period after seizure. Headache, confusion, myalgia, sore tongue (usually bitten), amnesia. Temporary weakness after focal seizure in motor cortex = Post-Ictal Todd’s palsy. Dysphasia following temporal lobe seizure.
What are the key presentations for focal seizures
Partial (focal): focal onset with features that can be referrable to a single lobe, e.g., temporal lobe.
Often seen with underlying structural disease i.e., underlying cause
Electrical discharge is limited to one lobe, in one hemisphere.
These may later progress to become generalised seizures
Describe the clinical manifestations for focal seizures
Simple partial = no affect on consciousness or memory. Awareness unimpaired but will have focal motor, sensory, autonomic, or psychic symptoms depending on affected lobe. No post-ictal symptoms
Complex partial = memory/awareness is impaired. Most commonly arises in temporal lobe > affects speech, memory, and emotion. Post-ictal confusion is common if temporal lobe, whereas recover is swift if frontal lobe is affected.
Partial seizure with secondary generalisation = 2/3 patients with partial seizures will develop generalised seizures, usually tonic-clonic. These start focally and spread widely throughout the cortex.
Specific lobe characteristics:
Temporal – dysphasia, aura, automatisms, memory, emotion, speech
Frontal – motor, jacksonian march (seizures march up and down motor homunculus), post-ictal Todd’s palsy (temporary focal weakness after seizure)
Parietal –paraesthesia
Occipital – visual phenomena e.g., spots, line, zigzags
What is the gold standard investigation for focal seizures
Clinical diagnosis (at least 2 seizures more than 24hours apart) and EEG (focal spikes or sharp waves in affected area)
Describe the first line investigations for focal seizures
Electroencephalogram (supportive not diagnostic, can determine type of epileptic syndrome)
MRI/CT (examine hippocampus, rule out other causes, e.g., tumour, bleeding)
Bloods (rule out other causes - FBC, Ca2+, electrolytes, U&Es, LFTs, glucose)
Genetic testing
What are the differential diagnosis for focal seizures
Syncope, TIA, generalised seizures, sleep disorders, chorea
Describe the management for focal seizures
Usually only started after 2nd epileptic episode.
1st line – lamotrigine/carbamazepine. 2nd line – sodium valproate/levetiracetam
Describe the complications for focal seizures
Status epilepticus: more than 3 seizures in one hour, or seizure lasting over 5 mins.
(Tx: IV or rectal benzodiazepines e.g., lorazepam or diazepam. Alternative, phenytoin)
Head trauma, fractures, memory loss
Define epilepsy generalised seizures
Epilepsy is an umbrella term for tendency to have seizures. Seizures are transient episodes of abnormal electrical activity in the brain. Types of general seizure: tonic, clonic, tonic-clonic, myoclonic, atonic, absence.
Criteria, one of:
At least 2 unprovoked seizures occurring more than 24hrs apart
One unprovoked seizure and a probability of future seizures (considered >60% risk in 10yrs)
Diagnosis of an epileptic syndrome
Describe the epidemiology for generalised seizures
Onset at extremes of life, <20yrs or >60yrs. Primary general seizures (40% of seizures)
Describe the aetiology for generalised seizures
2/3 idiopathic (often familial link), cortical scarring (trauma, cerebrovascular disease, infection), tumours, strokes, Alzheimer’s, alcohol withdrawal (delirium tremens)
Describe the risk factors for generalised seizures
Family history, premature babies, abnormal cerebral blood vessels, drugs e.g., cocaine
Describe the pathophysiology for generalised seizures
Normal balance between GABA (inhibitory) and glutamate (excitatory) shifts towards glutamate therefore increased glutamate stimulation and GABA inhibition causes increased excitation.
Components of epileptic seizure:
1. Prodrome: precedes the seizure, usually hours/days, weird feeling e.g., mood, behaviour.
2. Aura: feeling before seizure starts. Strange feeling in gut, déjà vu, automatisms (lip smacking, rapid blinking), strange smells, flashing lights. Often implies partial seizure.
3. Post-ictal: period after seizure. Headache, confusion, myalgia, sore tongue (usually bitten), amnesia. Temporary weakness after focal seizure in motor cortex = Post-Ictal Todd’s palsy. Dysphasia following temporal lobe seizure.
What are the key presentations for generalised seizures
Primary generalised: simultaneous electrical discharge throughout the whole cortex, no features suggesting localisation to one hemisphere/lobe.
Bilateral and symmetrical motor manifestations
Always associated with loss of consciousness and lack of awareness
Describe the clinical manifestations for generalised seizures
Tonic = high muscle tone, rigid, stiff limbs. Will fall to floor if standing due to stiff limbs.
Clonic = rhythmic muscle jerking (i.e., clonus the UMN sign)
Tonic-clonic (Grand Mal) = combination of tonic and clonic. Stereotypical shaking seizures due to mix of on/off rigidity and muscle jerking. Open eyes, incontinence, tongue bitten.
Myoclonic = isolated jerking of a limb/face/trunk. ‘Disobedient limb’ or ‘thrown to floor’. Typically in juvenile myoclonic epilepsy.
Atonic = opposite of tonic, loss of muscle tone = floppy
Absence (Petit Mal) = common in childhood, increased risk of developing tonic-clonic seizures in adulthood. Will go pale and stare blankly for a few seconds. Often suddenly stop talking mid-sentence and do not realise they have had an attack.
3Hz spike on EEG.
What is the gold standard investigation for generalised seizures
Clinical diagnosis (at least 2 seizures more than 24hours apart) and EEG (determine type of seizure)
Describe the first line investigations for generalised seizures
Electroencephalogram (supportive not diagnostic, can determine type of epileptic syndrome, e.g., 3Hz spike in absence seizure)
MRI/CT (examine hippocampus, rule out other causes, e.g., tumour, bleeding)
Bloods (rule out other causes - FBC, Ca2+, electrolytes, U&Es, LFTs, glucose)
Genetic testing (e.g., for juvenile myoclonic epilepsy)
What are the differential diagnosis for generalised seizures
Focal seizures, non-epileptic seizures, convulsive syncope, cardiac arrhythmia, TIA
Describe the management for generalised seizures
Usually only started after 2nd epileptic episode.
1st line – sodium valproate for all generalised seizures in males and women not childbearing age.
Women of childbearing age: give lamotrigine for all generalised seizures except myoclonic (levetiracetam/topiramate) and absence (ethosuximide). Sodium valproate highly teratogenic
Describe the complications for generalised seizures
Status epilepticus: more than 3 seizures in one hour, or seizure lasting over 5 mins.
(Tx: IV or rectal benzodiazepines e.g., lorazepam or diazepam. Alternative, phenytoin)
Define Parkinson’s disease
Progressive reduction of dopamine in the basal ganglia of the brain, leading to disorders of movement.
Describe the epidemiology for Parkinson’s disease
Typically develops 55-65 years old
Describe the aetiology for Parkinson’s disease
Loss of dopaminergic neurons from substantia nigra pars compacta in basal ganglia.
Drug-induced Parkinson’s caused by dopamine antagonists e.g., clozapine.
Also caused by encephalitis or exposure to certain toxins, e.g., manganese dust
Describe the risk factors for Parkinson’s disease
Age, male sex, pesticide exposure
Describe the pathophysiology for Parkinson’s disease
Basal ganglia are responsible for coordination of habitual movements e.g., walking, controlling voluntary movements and learning specific movement patterns.
Substantia nigra pars compacta produces dopamine which is essential for the correct functioning of the basal ganglia.
To initiate movement, SNPC signals to the striatum through the nigrostriatal pathway to stop firing to the substantia nigra pars reticulata and therefore stop inhibiting movement. If the SNPC is degenerated, there is decreased dopaminergic input which depressed the nigrostriatal pathway making it harder to initiate movement.
What are the key presentations for Parkinson’s disease
Symptoms are characteristically asymmetrical, one side affected more than other. Classic triad: resting tremor, rigidity, bradykinesia.
Describe the clinical manifestations for Parkinson’s disease
Signs: Impaired dexterity, fixed facial expressions, foot drag, postural instability. Shuffling gait with decreased arm swing on one side. Pill rolling thumb (rub thumb and finger back and forth). Cogwheel/lead pipe rigidity. Stooped posture. Forward tilt.
Symptoms: Dementia, depression, urinary frequency, constipation, sleep disturbances, fatigue, impaired balance, lost sense of smell (hyposmia, anosmia)
What is the gold standard investigation for Parkinson’s disease
Clinical diagnosis
Describe the first line investigations for Parkinson’s disease
1st line – dopaminergic agent trial
3 step diagnosis:
1. Diagnosis of parkinsonian syndrome: bradykinesia + one of rigidity, resting tremor, or postural instability
2. Exclusion criteria (none to be met): Hx stroke, repeated head injury, neuroleptic treatment, unilateral features after 3 years, cerebellar signs, Babinski’s sign, early severe dementia, negative response to large L-dopa dose.
3. Supportive criteria (3+ required): unilateral onset, rest tremor present, progressive, excellent response to L-dopa, visual hallucinations.
Other: MRI brain, functional neuroimaging
What are the differential diagnosis for Parkinson’s disease
Lewy body dementia (Parkinson Sx then dementia = Parkinson dementia. Parkinson sx after dementia = Lewy body dementia w/ Parkinson’s)
Benign essential tremor, Wilson’s disease
Describe the management for Parkinson’s disease
1st line symptomatic management – levodopa (L-dopa) + peripheral decarboxylase inhibitor (prevents breakdown of levodopa so more is available at blood-brain barrier, e.g., carbidopa, benserazide).
Body can become resistant to levodopa very quickly so give a COMT inhibitor alongside L-dopa to prevent weaning off. (e.g., entacapone)
MAO-B inhibitor (rasagiline, selegiline) – prevents dopamine breakdown.
Describe the complications for Parkinson’s disease
Too much dopamine – dyskinesias: dystonia (excess contractions), chorea (jerky), athetosis (twisting/writhing) as a result of levodopa treatment. Dementia. Bladder dysfunction. Dysphagia.
Define Alzheimer’s disease
Most common type of dementia. Chronic neurodegenerative disease with an insidious onset and progressive but slow decline in cognitive function (memory, judgement, language).
Describe the epidemiology for Alzheimer’s disease
Females, over 65
Describe the aetiology for Parkinson’s disease
Beta-amyloid plaques, neurofibrillary tangles
Describe the risk factors for Alzheimer’s disease
Advanced age, Down’s syndrome, ApoE E4 allele homozygosity, reduced cognitive activity, depression/loneliness
Describe the pathophysiology for Alzheimer’s disease
Pathological landmarks: extracellular deposition of beta-amyloid plaques, tau-containing intracellular neurofibrillary tangles, damaged synapses, atrophy, cortical scarring, decreased Ach neurotransmitter.
Accumulation of beta-amyloid plaques and neurofibrillary tangles leads to a reduction in information transmission and eventually the death of brain cells
What are the key presentations for Alzheimer’s disease
Memory – episodic and semantic (language difficulties, general knowledge, fact recall).
Language – difficulty understanding or finding words, dysphasia.
Attention and concentrating issues.
Psychiatric changes, e.g., withdrawal, delusions, personality change, apathy.
Disorientation e.g., time and surroundings.
Describe the clinical manifestations for Alzheimer’s disease
Signs: Agnosia (can’t recognise things), apraxia (can’t do basic motor skills), aphasia (speech problems)
What is the gold standard investigation for Alzheimer’s disease
Brain MRI (temporal lobe and cortical atrophy)
Describe the first line investigations for Alzheimer’s disease
MMSE (mini mental state examination): score /30. >25 = normal. 18-25 = impaired. <18 = severely impaired. Tests communication, memory, activities of daily life.
memory clinic assessment, Bloods – FBC, U&Es, B12 (rule out other causes), brain MRI
What are the differential diagnosis for Alzheimer’s disease
Delirium, depression, vascular dementia, Lewy body dementia, frontotemporal dementia
Describe the management for Alzheimer’s disease
No cure. Supportive therapy – carers, changes to home, help with daily activities.
Medication to manage symptoms – anticholinesterase inhibitors, e.g., donepezil, rivastigmine, galantamine, memantine
Describe the complications for Alzheimer’s disease
Pneumonia, institutionalisation, UTI, falls, weight loss, elder abuse
Define migraine
Primary headache. Recurrent throbbing headache often preceded by aura and associated with nausea, vomiting and visual changes.
Describe the epidemiology for migraines
Most common cause of episodic headache, more in females, onset before 40yo
Describe the aetiology for migraines
CHOCOLATE: chocolate, hangovers, orgasms, cheese, oral contraceptives, lie-ins, alcohol, tumult e.g., loud noises, exercise
Describe the risk factors for migraines
Genetics, FHx, Female, age (majority of first migraines are in adolescence), stress
Describe the pathophysiology for migraines
Suggestion that migraines may be due to irritation of trigeminal nuclei within the brainstem due to changes in arterial blood flow, this is why there is the pattern of one side of face being affected. Arteries painfully dilate during migraine
What are the key presentations for migraines
At least 2 of: unilateral pain (usually 4-72hrs), throbbing-type pain, moderate > severe intensity, motion sensitivity
Plus at least 1 of: nausea/vomiting, photophobia/phonophobia
There must be a normal exam and no attributable cause.
Describe the clinical manifestations for migraines
Prodrome (days before): yawning, cravings, mood/sleep changes
Aura (mins before attack – migraines classified as with or without aura): visual disturbances, e.g., lines, dots, zigzags. Somatosensory e.g., paraesthesia, pins and needles
What is the gold standard investigation for migraines
Clinical diagnosis
Describe the first line investigations for migraines
1st line: Clinical diagnosis
Other: Rule out other causes: labs e.g., ESR/CRP,
CT/MRI indications: worst/severe/thunderclap headache, change in pattern of migraine, abnormal neurological exam, onset >50yrs, epilepsy, posteriorly located headache
Lumbar puncture indications: thunderclap headache, severe rapid onset headache/progressive headache/unresponsiveness headache
What are the differential diagnosis for migraines
Cluster headache, tension headache, subarachnoid haemorrhage, giant cell arteritis
Describe the management for migraines
1st line – triptans e.g., sumatriptan (MOA: 5HT (serotonin) receptor agonists - act on trigeminal nerve to prevent peptide release which would cause vasodilation and pain, and on cranial vasculature causing vasoconstriction)
NSAIDs (naproxen), anti-emetic (metoclopramide), avoid opioids and ergotamine
Prevention: required if >2 attacks per month OR require acute meds >2x per week:
Beta blockers (propranolol), TCAs (amitriptyline), anti-convulsant (topiramate – CI pregnant)
Describe the complications for migraines
Pregnancy complications (pre-eclampsia, low birth weight), depression, migraine-triggered seizures
What are the key presentations for tension headaches
At least one of: bilateral, pressing/tight and non-pulsatile (like an elastic band around head), mild/moderate intensity, +/- scalp tenderness.
No aura, vomiting or head sensitivity to movement.
Can be some ‘pressure’ behind eyes, but pain isn’t localised around eye
Describe the risk factors for tension headaches
Stress, mental tension
Define tension headaches
Primary headache. Most common chronic and recurrent daily headache. Bilateral generalised pain, can spread to neck. Can be episodic <15 days/per month, or chronic >15 days/month (for at least 3 months)
Describe the aetiology for tension headaches
Triggers: stress, sleep deprivation, bad posture, hunger, eyestrain, anxiety, noise, overexertion, tension in muscles of face/jaw/neck
Describe the clinical manifestations for tension headaches
Symptoms: Generalised head pain, frontal head pain, sinus region pain (star shape), neck muscle tenderness (trapezius, SCM)
What is the gold standard investigation for tension headaches
Clinical diagnosis
Describe the further investigations for tension headaches
If suspected pathology: CT sinus, MRI brain, lumbar puncture
What are the differential diagnosis for tension headaches
Migraine, cluster headache, giant cell arteritis, sphenoid sinusitis
Describe the management for tension headaches
Avoid triggers and stress relief. Symptomatic relief: aspirin, paracetamol, ibuprofen, AVOID OPIOIDS
Chronic: antidepressants (amitriptyline)
Limit analgesics to no more than 6 days per month to reduce the risk of medication-overuse headaches
Describe the complications for tension headaches
NSAIDs complications (peptic ulcer, GI bleed, kidney injury)
Define cluster headaches
Primary headache. Clusters of episodic headaches lasting from 7 days up to 1 year (usually 2-3 weeks) with pain-free periods in between. Excruciating unilateral periorbital pain
Describe the epidemiology for cluster headaches
Much rarer than migraines, more common in males, 20-40yrs, most debilitating headache
Describe the risk factors for cluster headaches
Smoker, alcohol, male, genetics (autosomal dominant gene link)
Describe the pathophysiology of cluster headaches
Hypothalamic activation with secondary trigeminal and autonomic activation.
What are the key presentations for cluster headaches
Rapid onset of excruciating pain, classically around the eye (other common areas are temples and forehead)
Pain is strictly unilateral and localised to one area (rises to a crescendo over a few minutes and lasts for 15mins-3hrs, 1-2 times a day, usually around the same time of day)
Ipsilateral autonomic features: watery and bloodshot eye, facial flushing, rhinorrhoea (blocked nose), miosis (pupillary constriction), ptosis
What is the gold standard investigation for cluster headaches
Clinical diagnosis, at least 5 similar attacks (strictly unilateral, periorbital/supraorbital/temporal pain, lasting 15-180mins)
Describe the further investigations for cluster headaches
Rule out other causes: brain MRI, ESR, pituitary function tests
What are the differential diagnosis for cluster headaches
Migraine, tension headache, trigeminal neuralgia, subarachnoid haemorrhagic, giant cell arteritis
Describe the management for cluster headaches
Acute attack – 15L 100% oxygen for 15mins via non-rebreather mask. Triptans e.g., sumatriptan
Prevention – 1st line verapamil (CCB), lithium, topiramate, reduce alcohol and stop smoking
Describe the complications for cluster headaches
Depression
Define multiple sclerosis
Type 4 hypersensitivity cell-mediated autoimmune condition characterised by repeated episodes of inflammation of the nervous tissue in the brain and spinal cord. Results in the demyelination of CNS.
Describe the epidemiology for multiple sclerosis
Young females most common (20-40 years)
Describe the aetiology for multiple sclerosis
Unknown. Influenced by: genetic and environmental factors, EBV, smoking, obesity, low Vit D
Describe the risk factors for multiple sclerosis
Female 20-40yo, FHx, autoimmune conditions, EBV
Describe the pathophysiology for multiple sclerosis
Loss of myelin sheath in CNS. Oligodendrocytes (CNS) are affected, Schwann cells (PNS) are not affected. This slows or blocks the transmission of signals to and from the brain.
3 types of MS:
1. Relapsing-remitting MS: symptoms come and go, periods of good health followed by sudden symptoms, most common presentation.
2. Secondary progressive MS: flows from relaxing-remitting (50% develop secondary progressive), gradually worsening symptoms with fewer remissions
3. Primary progressive MS: from the beginning of the disease. Symptoms gradually develop and worsen over time. 10-15% of people at onset
Acute attacks are followed by periods where remyelination occurs. With advancing disease, these periods get shorter and less frequent.
What are the key presentations for multiple sclerosis
Optic neuritis 1st sx (optic nerve swelling – pain with eye movement, vision loss in one eye). Pyramidal weakness – upper limb extensors and lower limb flexors. Spastic paraparesis. Uhthoff phenomenon (symptoms worse with heat)
MS lesions disseminated in time and space (different symptoms each attack, affecting different parts of CNS)
Describe the clinical manifestations for multiple sclerosis
Signs: UMN signs. Loss of colour vision. Lhermitte sign (electric jolt felt down the spine when flexing neck).
Eye movement abnormalities due to 6th cranial nerve palsy (abducens) - Internuclear ophthalmoplegia, conjugate lateral gaze disorder.
Charcot neurological triad: nystagmus, intention tremor, dysarthria
Symptoms: Changes in sensation/numbness/tingling. Paraesthesia. Fatigue. Chronically increasing bladder involvement. Cognitive impairment. Dizziness. Depression.
What is the gold standard investigation for multiple sclerosis
McDonald criteria: symptoms disseminated in time (>1 month apart) and space (damage to different parts of CNS seen on MRI). GS tool = MRI brain and spinal cord
Describe the first line investigations for multiple sclerosis
Bloods should be normal: FBC, U&Es, LFTs, TFTs, B12, HIV serology, calcium, glucose.
Lumbar puncture (oligoclonal IgG bands in CSF), MRI, evoked potentials (measures brain electrical activity in response to stimulation of sight, sound or touch).
What are the differential diagnosis for multiple sclerosis
Fibromyalgia, Sjogren syndrome, Vitamin B12 deficiency, peripheral neuropathy, ischaemia stroke
Describe the management for multiple sclerosis
General management: MDT care, supportive therapy, legal obligation to inform DVLA.
Acute relapses – steroids (IV methylprednisolone).
Relapsing-remitting MS: interferon beta (CI in pregnancy), DMARDs, biologics (IV natalizumab), oral fingolimod (immunomodulator)
Secondary progressive MS: Siponimod or methylprednisolone.
Primary progressive MS: ocrelizumab
Describe the complications for multiple sclerosis
UTI, osteoporosis, depression, visual impairment, erectile dysfunction, cognitive impairment, reduced motility
Define motor neuron disease
A group of neurodegenerative diseases affecting upper and lower motor neurons. Most cases are Amyotrophic Lateral Sclerosis (ALS). Other cases are: Progressive Bulbar Palsy (PBP), Primary Lateral Sclerosis (PLS), Progressive Muscular Atrophy (PMA).
Describe the epidemiology for motor neuron disease
Men slightly more affected (3:2). Common onset 40-50 (familial) or 58-63 (sporadic)
Describe the aetiology for motor neuron disease
Sporadic. Few familial variants: SOD-1 gene, C90RF72 gene
Describe the pathophysiology for motor neuron disease
Mostly affects anterior horn cells of the spinal cord and the motor cranial nuclei.
Progressive bulbar palsy affects the medulla oblongata – origin of cranial nerves 9-12. Worse prognosis.
Motor neuron disease never affects: 1. Eye muscles (multiple sclerosis and myasthenia gravis do). 2. Sensory functions (multiple sclerosis and polyneuropathies do)
What are the key presentations for motor neuron disease
Mixed upper and lower motor neuron presentations, LMN predominates, e.g., weakness, muscle atrophy, fasciculations.
Onset in the limb is the typical presentation, e.g., wrist/foot drop, change in appearance of hands – wasting, gait disorders/tripping, excessive fatigue.
Describe the clinical manifestations for motor neuron disease
Signs: Amyotrophic Lateral Sclerosis (ALS): UMN and LMN, asymmetrical, Babinski +ve (stroke foot – toe extension), tongue fasciculations, corticobulbar signs: brisk jaw reflex, dysarthria, dysphagia, sialorrhea (excessive saliva), progressive paralysis, eventually respiratory failure.
Progressive Bulbar Palsy (PBP): LMN in brain stem, pharyngeal muscle weakness, progressive loss of speech, tongue atrophy, trouble with talking, chewing, swallowing.
Primary Lateral Sclerosis (PLS): UMN of arms/legs/face, slower movements, pseudobulbar effects (uncontrolled laughing or crying), UMN signs
Progressive Muscular Atrophy (PMA): LMN only, muscle wasting, clumsy hand movements, fasciculations, muscle cramps
What is the gold standard investigation for motor neuron disease
El Escorial criteria:
1. Presence of: LMN degeneration by clinical, electrophysiological, or neuropathological examination; UMN degeneration by clinical examination; progressive symptoms as determined by the history.
2. Absence of: electrophysiological and pathological evidence of other diseases processes; neuroimaging evidence of disease processes
Describe the first line investigations for motor neuron disease
Nerve conduction studies, electromyogram (shows fibrillation potentials), CT/MRI brain and spinal cord (other causes), bloods (other causes), muscle biopsy
What are the differential diagnosis for motor neuron disease
Myasthenia gravis, multifocal motor neuropathy, inclusion body myositis
Describe the management for motor neuron disease
MDT care, supportive therapy, occupational, speech and language, physiotherapy, nutrition support (PEG tube - through stomach).
Non-invasive ventilation. Riluzole (neuroprotective glutamate-release inhibitor, life-prolonging treatment). Quinine/baclofen (cramps). Hyoscine (sialorrhea – drooling)
Describe the complications for motor neuron disease
Respiratory failure, aspiration pneumonia, swallowing failure, nutritional deficit
Describe the prognosis for motor neuron disease
2-4 years post-diagnosis
Define meningitis
Inflammation of the meninges lining the brain and spinal cord, due to bacteria, viral or fungal infection. Notifiable disease.
Describe the epidemiology for meningitis
Infants and teenagers most at risk. Viral is most common, bacterial is more serious
Describe the aetiology for meningitis
Bacterial meningitis: N. meningitidis, E. Coli, listeria, haemophilus influenza B, s. pneumonia, klebsiella, TB
Viral meningitis: mumps, herpes zoster, influenza, HIV, measles, enteroviruses (coxsackie)
Fungal meningitis: cryptococcus, candida, histoplasma
Describe the risk factors for meningitis
Immunosuppression, smoking, CSF shunts, diabetes mellitus, IVDU, adrenal insufficiency, malignancy, sickle cell disease, crowding (university!)
Describe the pathophysiology for meningitis
Neisseria meningitis is a gram-negative diplococcus bacteria. Meningococcal septicaemia is when meningococcus is in the bloodstream and causes a non-blanching rash which indicates the infection has disseminated intravascular coagulation and subcutaneous haemorrhages.
What are the key presentations for meningitis
Stiff neck, photophobia, headache, pyrexia, Kernig sign (pain on passive leg extension when knee is flexed), Brudzinski sign (passive flexion of neck causes hip and knee flexion)
Describe the clinical manifestations for meningitis
Signs: non-blanching purpuric rash (meningococcus only), septic shock.
Raised ICP: decreased GCS, seizure, focal deficits, cranial nerve palsies
Symptoms: Fever, headache, nausea, vomiting, lethargy, irritability, muscle pains, chills, shivering, sore throat, decreased consciousness
What is the gold standard investigation for meningitis
Lumbar puncture (L3/L4) and CSF analysis. Contraindicated with raised ICP, shock
Describe the first line investigations for meningitis
If suspected do not delay treatment – IV antibiotics before lumbar puncture. Lumbar puncture within 1 hour of arrival.
Blood cultures (positive).
FBC (leucocytosis, anaemia, thrombocytopenia),
U&E (acidosis, hypokalaemia, hypocalcaemia, hypomagnesemia),
Glucose, lactate dehydrogenase, LFTs. ABG (acidosis), clotting screen (DIC).
Pneumococcal and meningococcal PCR. Viral PCR. Fungal cultures (3 sets)
What are the differential diagnosis for meningitis
Encephalitis, bacterial/viral/fungal/tuberculosis meningitis
Describe the management for meningitis
1st line – empirical antibiotics. With rash = Benzylpenicillin IV. Without rash = Cefotaxime IV. Plus, steroids (dexamethasone) for bacterial meningitis.
Add vancomycin is S. pneumoniae suspected. Add amoxicillin if listeria suspected.
Prophylactic antibiotics for household/contacts.
No specific treatment for viral meningitis. Analgesia, antipyretics, hydration
Describe the complications for meningitis
Disseminated intravascular coagulation, meningococcal septicaemia, Waterhouse Friedrichsen syndrome (adrenal insufficiency caused by adrenal haemorrhage from meningococcal DIC).
Hearing loss, seizures, cognitive impairment and learning disability, memory loss.
Describe the prognosis for meningitis
20-30% mortality
Define encephalitis
Inflammation of brain parenchyma
Describe the epidemiology for encephalitis
Most severe infections in children and elderly. Most commonly HSV-1
Describe the aetiology for encephalitis
Viral infection (most commonly HSV-1 herpes simplex virus. Also, CMV, EBV).
TB, Lyme disease, toxoplasmosis, ticks
Describe the risk factors for encephalitis
Immunocompromised, extremes of age
Describe the pathophysiology for encephalitis
Virus gains entry via skin/GI/GU/resp tract and spreads to brain via haematogenous spread
What are the key presentations for encephalitis
Triad of fever, headache, altered mental status. Rash
Describe the clinical manifestations for encephalitis
Signs: Raised ICP. Encephalopathy. Focal neurology (temporal lobe – aphasia)
Symptoms: Meningitis symptoms (neck stiffness, photophobia, vomiting, headache). Reduced consciousness, drowsiness, coma. Cough
What is the gold standard investigation for encephalitis
MRI brain (swelling of brain)
Describe the first line investigations for encephalitis
1st line: Bloods – FBC (raised WCC), U&Es (hyponatraemia), LFTs, TFTs, B12, lactate
Lumbar puncture and CSF analysis – viral PCR to detect virus (lymphocytosis with normal CSF:plasma glucose ratio)
Blood cultures. EEG (background slowing). HIV testing
What are the differential diagnosis for encephalitis
Meningitis, encephalopathy, ischaemic stroke
Describe the management for encephalitis
1st line – aciclovir as soon as encephalitis suspected.
Confirmed HSV-1 = aciclovir. Varicella zoster = aciclovir/ganciclovir. CMV = ganciclovir. EBV = aciclovir/ganciclovir
Non-viral encephalitis = antibiotics – IV benzylpenicillin.
Describe the complications for encephalitis
Seizures, neurological problems (aphasia, memory loss, motor problems), hydrocephalus
Define primary and secondary brain tumours
Primary brain tumours: gliomas – astrocytoma (most common), oligodendroglioma. Others – ependymoma, meningioma, schwannoma, craniopharyngiomas
Secondary brain tumours: non-small cell lung cancers (most common), small cell lung cancer, breast, melanoma, renal cell carcinoma, GI
Describe the epidemiology for primary and secondary brain tumours
Secondary brain tumours much more common
Describe the pathophysiology for primary and secondary brain tumours
Gliomas are tumours of glial cells of brain and spinal cord: astrocytoma (glioblastoma multiforme most common), oligodendroglioma, ependymoma.
What are the key presentations for primary and secondary brain tumours
Raised ICP, Cushing triad (bradycardia, raised pulse pressure, irregular breathing), focal neurology, epileptic seizures, lethargy, weight loss, papilloedema (swelling of optic disc), CN6 palsy.
What is the gold standard investigation for primary and secondary brain tumours
MRI head to locate tumour then biopsy to determine grade
Describe the further investigations for primary and secondary brain tumours
No lumbar puncture due to raised ICP = massive contraindication
Describe the management for primary and secondary brain tumours
1st line – surgery to remove tumour and decrease ICP. + chemo before/after/during surgery
Dexamethasone + mannitol to decrease ICP
Define amaruosis fugax
Transient unilateral vision loss caused by temporary occlusion of the retinal artery. Like a curtain coming down.
Describe the aetiology for amaruosis fugax
Blood clot or plaque in retinal artery, heart disease, stroke, hypertension, high cholesterol
Describe the pathophysiology for amaruosis fugax
Often signal a stroke is impending as it is caused by a clot blocking the artery to the eye
Describe the management for amaruosis fugax
1st line – aspirin to prevent blood clots
Define spinal cord compression
Compression of the spinal cord from C1-L1/2
Describe the aetiology for spinal cord compression
Vertebral body tumours (most common spine malignancies are breast, prostate, and lung cancer)
Trauma, central disc protrusion, prolapsed disc (L4-5 and L5-S1 most common), epidural haematoma, infection, cervical spondylitic myelopathy
Describe the pathophysiology for spinal cord compression
Pressure on spinal cord causes the nerves to swell which slows down or blocks their blood supply, causing the nerves to stop working properly.
What are the key presentations for spinal cord compression
Red flag: progressive limb weakness, UMN signs in lower limbs (e.g. clonus, hyperreflexia, Babinski sign) LMN signs in upper limbs (e.g. atrophy). Sensory loss below lesion (as ascending tracts send info up). Loss of bladder/bowel function
Describe the clinical manifestations for spinal cord compression
Paraplegia, back pain, paraesthesia, changes to tendon reflexes
What is the gold standard investigation for spinal cord compression
MRI spine (visualise cord compression)
Describe the first line investigations for spinal cord compression
X-ray whole spine, MRI spine, RFTs, haemoglobin – monitor blood loss
What are the differential diagnosis for spinal cord compression
Guillain-Barre syndrome, transverse myelitis, intervertebral disc herniation/compression
Describe the management for spinal cord compression
1st line – dexamethasone until treatment plan confirmed.
Catheterisation, analgesia, surgical decompression (laminectomy, microdiscectomy), chemotherapy if indicated
Describe the complications for spinal cord compression
Pressure ulcers, autonomic dysfunction, DVT, falls
Define cauda equina syndrome
Surgical emergency where the nerves roots of the cauda equina at the end of the spinal cord are compressed. L2/3 downwards
Describe the aetiology for cauda equina syndrome
Lumbar herniation at L4/5 or L5/S1, tumours, trauma, infection/abscess, spondylolisthesis
Describe the pathophysiology for cauda equina syndrome
The cauda equina is formed by the nerve roots below spinal cord termination conus medularis at L2/3. Nerve roots exit either side of spinal column at their vertebral level (L4, L5, S-5 and Co).
The nerves of cauda equina supply: sensation to lower limbs, perineum, bladder and rectum.
Motor innervation to the lower limbs and the anal and urethral sphincters.
Parasympathetic innervation of bladder and rectum.
What are the key presentations for cauda equina syndrome
Sudden onset. Saddle paraesthesia (loss of perineum sensation). Bilateral LMN weakness, absent ankle reflex (L5-S1), hypotonia, fasciculations. Bladder/bowel dysfunction + sphincter involvement (loss of sensation, incontinence, reduced anal tone).
Describe the clinical manifestations for cauda equina syndrome
Lower back pain, sexual dysfunction, leg weakness, bilateral sciatica
What is the gold standard investigation for cauda equina syndrome
MRI spine (visualisation of lesion and nerve compression)
Describe the first line investigations for cauda equina syndrome
Medical emergency – immediate referral. Urgent MRI spine. Rectal exam – loss of anal tone/sensation. Testing nerve roots and reflexes (absent ankle reflex L5-S1).
What are the differential diagnosis for cauda equina syndrome
Spinal compression fracture, Guillain-Barre, transverse myelitis
Describe the management for cauda equina syndrome
1st line – surgical decompression (microdiscectomy/spinal fixation). Immobilize spine.
VTE prophylaxis, antibiotics if infection
Describe the complications for cauda equina syndrome
Bladder/bowel/sexual dysfunction, back or leg pain, sensory loss, leg weakness
Define cranial nerve lesion
Damage to a nerve through compression, trauma, infection etc. resulting in interruption of axonal continuity
Describe the aetiology for cranial nerve lesions
Nerves 3-12 in brainstem therefore brainstem pathology e.g. trauma, tumour, multiple sclerosis
What are the key presentations for cranial nerve lesions
- Olfactory: impaired/lost sense of smell
- Optic: blindness, visual field defects
- Oculomotor: ptosis, down + out eye, fixed dilated pupil
- Trochlear: diplopia looking down, always due to trauma
- Trigeminal: jaw deviates to affected side, loss of corneal reflex, causes: trigeminal neuralgia: sensory pain/motor jaw pain in V1/2/3
- Abducens: adducted eye, inability to look laterally, sign of raised ICP
- Facial: facial droop with forehead sparing, causes: bell’s palsy, parotid inflammation
- Vestibulocochlear: hearing loss, loss of balance, causes: skull changes, (e.g., Paget’s), compression, middle ear disease
- Glossopharyngeal: impaired gag reflex
- Vagus: impaired gag reflex, swallowing, respiration, vocal issues, causes: jugular foramen lesion
- Accessory: can’t shrug shoulders or turn head against resistance
- Hypoglossal: tongue deviation towards affected side
What is the gold standard investigation for cranial nerve lesions
Neurological examination, MRI
Describe the management for cranial nerve lesions
Medication (anti-convulsants, analgesia), surgery, physiotherapy.
Define carpal tunnel syndrome
Compression of the median nerve (C5-T1) in the carpal tunnel
Describe the epidemiology for carpal tunnel syndrome
Females 40-60s, pregnant women
Describe the aetiology for carpal tunnel syndrome
Swelling of carpal tunnel contents, narrowing of carpal tunnel
Describe the risk factors for carpal tunnel syndrome
Female, hypothyroidism, acromegaly, obesity, pregnancy, rheumatoid arthritis, repetitive strain
Describe the pathophysiology for carpal tunnel syndrome
8 carpal bones in wrist and transverse carpal ligament/flexor retinaculum that runs across the front. Between the carpal bones and ligament is the carpal tunnel.
Capral tunnel contains median nerve and flexor tendons of forearm. Median nerve gives sensation to thumb, index finger, middle finger, and half of ring finger. Motor innervation to thenar muscles.
What are the key presentations for carpal tunnel syndrome
Paraesthesia, index and middle finger tend to be affected first. Pain in index and middle finger, can spread to shoulder. Numbness. Weakness of thenar muscles, loss of grip.
Describe the clinical manifestations for carpal tunnel syndrome
Signs: Wasting of thenar eminence
Symptoms: Aching hand/forearm. Worse at night, relieved by hanging over side of bed. Wake and shake.
What is the gold standard investigation for carpal tunnel syndrome
Electromyogram (slowing of conduction velocity across median nerve in carpal tunnel)
Describe the first line investigations for carpal tunnel syndrome
Clinical diagnosis based on symptoms:
Phalen test: flex fist at wrist for 1 min. Positive = pain and paraesthesia.
Tinel test: tapping wrist causes tingling.
Nerve conduction test, electromyogram, USS or MRI if other damage suspected.
What are the differential diagnosis for carpal tunnel syndrome
Osteoarthritis, ulnar neuropathy, polyneuropathy
Describe the management for carpal tunnel syndrome
1st line –Wrist splint at night. Steroid injections. Rest wrist, avoid gripping/squeezing movements.
Surgery in severe cases to decompress carpal tunnel. ¼ cases are self-limiting. Pregnancy cases will resolve post-partum.
Define foot drop
Difficulty lifting the front part of the foot, resulting in dragging of toes. Caused by damage to common peroneal nerve L4-S2 (common fibular nerve)
Describe the aetiology for foot drop
Injury, lower back damage, tumour, hip replacement, cauda equina syndrome, multiple sclerosis
What are the key presentations for foot drop
Unilateral symptoms. One foot dragging across floor when walking. Tripping. Ipsilateral numbness and weakness.
What is the gold standard investigation for foot drop
Foot drop on clinical examination
Describe the first line investigations for foot drop
Clinical diagnosis (foot drop). Underlying cause: X-ray, USS, MRI. Nerve conduction studies.
Describe the management for foot drop
1st line – brace or splint. Physiotherapy. Specialised shoes (prevent foot drop when walking). Nerve stimulation. Surgery if indicated.
Define myasthenia gravis
Autoimmune condition causing disorders of neuromuscular transmission due to the binding of autoantibodies to components of the neuromuscular junction, most commonly the acetylcholine receptor.
Describe the epidemiology for myasthenia gravis
Peak incidence 40s for women and 60-70 for men
Describe the aetiology for myasthenia gravis
Females (autoimmune), males (thymoma)
Describe the risk factors for myasthenia gravis
Family history, other autoimmune conditions, thymoma
Describe the pathophysiology for myasthenia gravis
85% anti-acetylcholine receptor: bind to post synaptic receptor and competitively inhibit ACh binding. More receptors are blocked during exertion leading to more muscle weakness. These antibodies activate the complement system which damages cells at postsynaptic membrane.
15% anti-MuSK (muscle-specific kinase): MuSK helps synthesis acetylcholine therefore there will be decreased acetylcholine receptor expression on post-synaptic membrane.
What are the key presentations for myasthenia gravis
Muscle weakness that gets worse with exercise and better with rest. Starts at head and neck, progresses to lower body.
Ocular manifestations (weak eye muscles > diplopia, ptosis).
Weakness is more marked in proximal muscles: small muscles of hands, deltoid and triceps, bulbar muscles (head and neck), muscles involved in chewing.
Describe the clinical manifestations for myasthenia gravis
No muscle wasting, sensation unimpaired, myasthenia snarl (difficulty smiling, looking creepy), jaw fatigability, swallowing difficulty, speech fatiguability, seizures
What is the gold standard investigation for myasthenia gravis
Serology: acetylcholine receptors antibodies or muscle-specific kinase antibodies
Describe the first line investigations for myasthenia gravis
Clinical diagnosis. Serology: detection of ACh receptor or MuSK antibodies.
Crushed ice test: ice is applied to ptosis for 3 mins, if it improves it is likely myasthenia gravis.
Tensilon/Edrophonium test: administer edrophonium – rapid acting acetylcholinesterase inhibitor. Positive = increased muscle power in a few secs for a few secs.
CT thymus. Pulmonary function tests.
What are the differential diagnosis for myasthenia gravis
Lambert-Eaton myasthenic syndrome (autoimmune vs Ca2+ channels, sx improve with exertion. Associated with SCLC not thymoma. Sx start at extremities. Tx = steroids)
Describe the management for myasthenia gravis
1st line –acetylcholinesterase inhibitors, e.g., Pyridostigmine or neostigmine (increases ACh and decreases muscle weakness). Immunosuppression (prednisolone or azathioprine). Rituximab. Thymectomy.
Describe the complications for myasthenia gravis
Myasthenic crisis: acute symptoms worsening with severe respiratory weakness. Tx = plasma exchange and IV immunoglobulins. BiPAP ventilation (bilevel positive airway pressure)
Define peripheral neuropathy
Damage to peripheral nerves resulting in transmission blockages between CNS and PNS
Describe the aetiology for peripheral neuropathy
Diabetic neuropathy most common. Dietary deficiencies (B12 deficiency – axonal degeneration), medicines, alcohol excess, trauma, infection (e.g., shingles), Guillain Barre and Charcot-Marie-Tooth cause demyelination.
Describe the pathophysiology for peripheral nueropathy
Mechanisms of peripheral neuropathy: demyelination, axonal damage, nerve compression, vasa nervosum infarction, Wallerian degeneration
What are the key presentations for peripheral neuropathy
Sensory: loss of touch, proprioception, temperature/pain sensation, paraesthesia. Numbness, tingling, burning/shooting pains. +ve Romberg test (patient cannot stand with feet together and eyes closed) – sensory ataxia.
Motor: distal weakness – tripping, difficulty opening jars. Proximal weakness – difficulty climbing stairs. Muscle wasting. Fasciculations. Absent tendon reflexes.
What is the gold standard investigation for peripheral neuropathy
Nerve conduction studies
Describe the first line investigations for peripheral neuropathy
Bloods – FBC, glucose, U&Es, LFTs, TFTs, B12, ESR.
Nerve conduction studies. Electromyography (measures muscle electrical activity). Nerve biopsy.
What are the differential diagnosis for peripheral neuropathy
Mononeuritis multiplex – damage to at least 2 different areas of peripheral nervous system.
Causes (WARDS PLC): Wegener’s vasculitis, AIDS/amyloidosis, rheumatoid arthritis, DMT2, sarcoidosis, polyarteritis nodosa, leprosy, carcinomas.
Symptoms = numbness, weakness, pain
Dx= clinical presentation + nerve biopsy
Describe the management for peripheral neuropathy
1st line – treat underlying cause.
Anti-seizure meds (Pregabalin/gabapentin). Antidepressants (amitriptyline). Supportive therapy, e.g., walking aids
Define syncope
Event of temporarily losing consciousness due to a disruption of blood flow to the brain, often leading to a fall
Describe the aetiology for syncope
Primary syncope (simple fainting): dehydration, missed meals, extending standing in a war environment, vasovagal response to stimuli, e.g., sudden surprise, pain, sight of blood.
Secondary syncope: hypoglycaemia, anaemia, infection, anaphylaxis, arrhythmias, valvular heart disease, hypertrophic cardiomyopathy
Describe the pathophysiology for syncope
When the vagus nerve receives a strong stimulus it stimulates the parasympathetic nervous system which causes vasodilation of blood vessels in the brain. The blood pressure in cerebral circulation drops, leading to hypoperfusion of the brain tissue leading to loss of consciousness and fainting.
What are the key presentations for syncope
Prodrome: hot or clammy, sweating, heavy, dizzy, lightheaded, vision going blurry or dark, headache.
Loss of consciousness and falling to the ground
Describe the first line investigations for syncope
History and clinical examination, ECG (arrhythmia, long QT syndrome), echocardiogram, bloods: FBC (anaemia), electrolytes (arrhythmias, seizures), blood glucose
What are the differential diagnosis for syncope
Seizures, bradycardia, supraventricular tachycardias, ventricular tachycardias
Describe the management for syncope
Education and avoid triggers: dehydration, missing meals, standing still for long periods
Define Huntington’s disease
Autosomal dominant condition causing progressive degeneration of the nervous system. 100% penetrance (all genotypes will express phenotype)
Define the epidemiology of Huntington’s disease
Onset 30-50yo
Describe the aetiology for Huntington’s disease
Autosomal dominant mutation. Trinucleotide expansion repeats: CAG repeats on Huntington’s gene on chromosome 4. More than 35 CAG repeats = Huntington’s.
Anticipation: successive generations have more CAG repeats in the HTT gene, resulting in earlier onset and greater severity of disease.
Describe the risk factors for Huntington’s disease
Family history
Describe the pathophysiology for Huntington’s disease
Associated with cell loss within cortex and basal ganglia. Essentially too much dopamine. Lack of GABA and excessive nigrostriatal pathway.
What are the key presentations for Huntington’s disease
Hyperkinesia. Chorea, dystonia, and incoordination. Depression, psychiatric issues.
Describe the clinical manifestations for Huntington’s disease
Signs: Cognitive impairment, behavioural difficulties, psychosis. Eye movement disorders, dysarthria, dysphagia.
Symptoms: Depression, irritability, agitation, anxiety.
What is the gold standard investigation for Huntington’s disease
Clinical diagnosis and genetic testing
Describe the first line investigations for Huntington’s disease
Clinical diagnosis.
MRI/CT brain – loss of striatal volume. Genetic testing (>35 CAG repeats on chromosome 4)
What are the differential diagnosis for Huntington’s disease
SLE, Wilson’s disease, Sydenham’s chorea
Describe the management for Huntington’s disease
No treatment for stopping or slowing progression of disease.
Chorea: antipsychotics (olanzapine), benzodiazepines (diazepam), dopamine antagonists (tetrabenazine)
Psychosis: antipsychotics (haloperidol). Depression: SSRIs (citalopram)
Describe the complications for Huntington’s disease
Pneumonia, heart failure, MI, suicide
Describe the prognosis for Huntington’s disease
Poor prognosis: 15–20-year life expectancy after onset. Most common from respiratory failure, e.g., pneumonia. 2nd most common from suicide.
Define Guillain-Barre syndrome
Acute polyneuropathy causing rapid damage of the peripheral nerves. Results in demyelination and axonal degeneration.
Describe the epidemiology for Guillain-Barre syndrome
Males, peak ages 15-35 and 50-75
Describe the aetiology for Guillain-Barre syndrome
Commonly presents post-GI infection (approx. 6 weeks after). Most commonly campylobacter jejuni. Also caused by EBV, CMV, mycoplasma and HIV.
Describe the risk factors for Gullain-Barre syndrome
GI infection
Describe the pathophysiology for Guillain-Barre syndrome
Molecular mimicry: The B cells of the immune system create antibodies against the antigens on the pathogen that causes the preceding infection. These antibodies also match proteins on the nerve cells. They may target proteins on the myelin sheath of the motor nerve cell or the nerve axon.
Movement, sensation, and organ function can all be affected based on the nerves damaged.
What are the key presentations for Guillain-Barre syndrome
Weakness, paraesthesia, hyporeflexia. Sudden onset toes to nose ascending symmetrical weakness. Loss of deep tendon reflexes. Peripheral loss of sensation or neuropathic pain. Cranial nerve facial weakness.
Describe the clinical manifestations for Guillain-Barre syndrome
Signs: Absent reflexes (LMN sign). Involvement of autonomic nervous system: reduced sweating, reduced heat tolerance, paralytic ileus (pseudo-obstruction), urinary hesitancy. Respiratory failure
Symptoms: Pain in legs, back pain rare, altered consciousness, ataxia (motor coordination difficulties), fatigue
What is the gold standard investigation for Guillain-Barre syndrome
Brighton criteria: clinical symptoms + Lumbar puncture CSF analysis + nerve conduction studies
Describe the first line investigations for Guillain-Barre syndrome
Bloods – FBC, U&Es, LFT (raised AST and ALT). Stool culture.
Lumbar puncture – cyto-protein dissociation: raised protein >0.55g/L. Normal WCC at <5 WBC per mm2.
Nerve conduction studies (reduced conduction velocities, downwards conduction block).
Spirometry for respiratory function. ECG
What are the differential diagnosis for Guillain-Barre syndrome
Myasthenia gravis, Lambert-Eaton myasthenic syndrome, transverse myelitis
Describe the management for Guillain-Barre syndrome
1st line – IV immunoglobulin 0.44g/kg/day for 5 days and plasmapheresis
DVT prophylaxis – LMWH. Avoid corticosteroids.
Describe the complications for Guillain-Barre syndrome
Respiratory failure, bladder areflexia (can’t contract), adynamic ileus, DVT, paralysis
Describe the prognosis for Guillain-Barre syndrome
85% recover
Define Brown Sequard syndrome
Hemisection of the spinal cord. Mostly in cervical region
Describe the aetiology for Brown sequard syndrome
Penetrating trauma
Describe the pathophysiology for Brown Sequard syndrome
- Ipsilateral hemiplegia (corticospinal tract).
- Contralateral pain and temperature sensation deficits (spinothalamic tract).
- Ipsilateral loss of proprioception, fine touch and vibration (dorsal column medial lemniscus tract)
What are the key presentations for Brown Sequard syndrome
Total ipsilateral loss of two-point discrimination, fine touch and vibration sensation at level of lesion. (DCML)
Contralateral loss of pain and temperature below the lesion (spinothalamic)
Sphincter disturbances, ipsilateral spastic paraparesis (muscle weakness with spasms), ipsilateral motor weakness (UMN)
What is the gold standard investigation for Brown-sequard syndrome
MRI spine and neurological exam
Describe the first line investigations for Brown-sequard syndrome
Bloods: FBC, U&Es, LFTs, CRP/ESR, B12.
Plain radiographs for penetrating or blunt trauma. MRI to examine extent of injury. Neurological examination to examine level of injury.
What are the differential diagnosis for Brown-sequard syndrome
Stroke, multiple sclerosis, transverse myelitis, hemiplegia
Describe the management for for Brown-sequard syndrome
1st line - Surgery (Spine immobilisation, decompression).
Steroids to decrease swelling (IV methylprednisolone). Physical/occupational therapy.
Define Charcot-Marie-Tooth syndrome
Inherited disease affecting the peripheral sensory and motor nerves due to dysfunction in the myelin or the axons. PNS neuropathy
Describe the epidemiology for Charcot-Marie-Tooth syndrome
Childhood-adult onset
Describe the aetiology for Charcot-Marie-Tooth syndrome
Autosomal dominant mutation
What are the key presentations for Charcot-Marie-Tooth syndrome
High foot arch (pes cavus),
distal muscle wasting causing ‘inverted champagne bottle legs’,
lower leg weakness, loss of ankle dorsiflexion (foot drop), weakness in hands,
reduced tendon reflexes, reduced muscle tone, peripheral sensory loss.
Walking difficulties, steppage gait (inability to lift foot while walking due to loss of dorsiflexion)
What are the gold standard investigations for Charcot-Marie-Tooth syndrome
Nerve conduction studies, genetic testing
Describe the management for Charcot-Marie-Tooth syndrome
No treatment. Physiotherapy, occupational therapy, podiatry, orthopaedic surgery
Define claw hand
Ulnar nerve palsy (C8-T1) presenting as claw hand
Descirbe the pathophysiology for claw hand
Ulnar nerve provides motor innervation to part of forearm and majority of hand. Sensory innervation to medial forearm, medial wrist, and medial 1.5 digits
What are the key presentations for claw hand
Claw hand (4th and 5th fingers claw up), difficulty straightening fingers. Paraesthesia, tingling, numbness along forearm, into wrist, ring and little finger.
What are the gold standard investigations for claw hand
Clinical examination + electromyography/nerve conduction studies
Describe the management for claw hand
1st line - splint and simple analgesia
Define depression
Depressive disorders are characterised by persistent low mood, loss of interest and enjoyment, and reduced energy causing social and occupational dysfunction
Describe the epidemiology for depression
20% of women, 12% of men
Describe the aetiology for depression
Combination of genetics, biological, environmental, psychological
Describe the risk factors for depression
Postnatal status, family history, dementia, stress
Describe the pathophysiology for depression
Main neurotransmitters (monoamines): serotonin (obsessions and compulsions), norepinephrine (anxiety and attention), dopamine (attention, motivation, and pleasure)
What are the key presentations for depression
Depressed mood, lack of interest/pleasure (anhedonia), weight loss/gain, inability to sleep/oversleeping, psychomotor agitation/impairment, fatigue, feelings of worthlessness or guilt, decreased concentration, thoughts of death or suicide.
Symptoms impact patient’s daily life
What is the gold standard investigation for depression
Criteria from diagnostic and statistical manual for mental disorders 5th edition:
a. 5 of 9 symptoms most of the day, nearly every day:
1. depressed mood,
2. diminished interest/pleasure,
3. weight loss/gain,
4. inability to sleep/oversleeping,
5. psychomotor agitation/impairment,
6. fatigue,
7. feelings of worthlessness/guilt,
8. decreased concentration,
9. thoughts of death or suicidality (thoughts or attempts)
b. symptoms cause significant distress to daily life
c. not due to substance or other medical conditions
d. symptoms cannot be better explained by other mental disorder
e. no manic or hypomanic episodes
Describe the management for depression
- non-pharmacological: physical activity, healthy eating habits, psychotherapy/talk-therapy (CBT, interpersonal therapy)
- pharmacological therapy: antidepressants.
Selective serotonin reuptake inhibitors (SSRIs inhibit reuptake of serotonin so there is more in the synaptic cleft). E.g., citalopram, escitalopram, fluoxetine
Monoamine oxidase inhibitors (MAO-Is). E.g, isocarboxazid, phenelzine
Tricyclic antidepressants. E.g., amitriptyline - electroconvulsive therapy (electrical induced seizures)
Define Duchenne muscular dystrophy
X-linked recessive condition characterised by progressive muscle wasting and weakness
Describe the epidemiology for Duchenne muscular dystrophy
Young males, presents around 3yo
Describe the aetiology for Duchenne muscular dystrophy
X-linked recessive
Describe the pathophysiology for Duchenne muscular dystrophy
Results in damage to dystrophin gene so no dystrophin is produced. Dystrophin function - strength muscle fibres and protect from injury. Muscle replaced with adipose.
What are the key presentations for Duchenne muscular dystrophy
Presents early childhood. Progressive proximal muscular dystrophy with characteristic pseudohypertrophy of the calves. Major milestones delayed. Imbalance of lower limb strength. Recurrent falls. Speech delay. Fatigue.
Gower’s sign: difficulty getting up from lying down (downward dog, use hands on knees to get up). Toe walking, hypotonia.
What is the gold standard investigation for Duchenne muscular dystrophy
Genetic analysis
Describe the first line investigations for Duchenne muscular dystrophy
Serum creatinine kinase (very high). Muscle strength test. Gait assessment. Muscle biopsy with assay for dystrophin protein
Describe the management for Duchenne muscular dystrophy
Vitamin D and bisphosphonates for bone health. Corticosteroids. Immunisations – influenza and meningococcal.
MDT care, specialist referral, physiotherapy, wheelchair, nutritional, palliative care
Describe the complications for Duchenne muscular dystrophy
Joint contractures, respiratory failure, cardiomyopathy, heart failure, gastric dilation, learning difficulties, steroids: constipation, osteoporosis, hypertension.
Describe the prognosis for Duchenne muscular dystrophy
Wheelchair by 12, death by 30
Define frontotemporal dementia
Neurodegenerative brain disorder. Progressive dementia common in under 65s. Causes atrophy of frontal and temporal lobes.
Describe the epidemiology for frontotemporal dementia
Common dementia in under 65s
Describe the aetiology for frontotemporal dementia
Neuron damage and death in frontal and temporal lobe, genetic
Describe the risk factors for frontotemporal dementia
Family history, autosomal dominant inheritance (Tau protein - chromosome 17) FHx of motor neuron disease
Describe the pathophysiology for frontotemporal dementia
Pathological features: atrophy of frontal and temporal lobes, loss of neurons but no plaque formation.
What are the key presentations for frontotemporal dementia
Insidious and progressive onset.
Behavioural issues: loss of inhibition/empathy, compulsive behaviours, difficulty planning
Progressive aphasia: slow, difficult speech, grammatical errors
Semantic dementia: loss of vocabulary, problems understanding words, problems recognising objects/faces
Parkinsonism, memory impairment, disorientation
What is the gold standard investigation for frontotemporal dementia
Brain MRI (temporal and frontal atrophy)
Describe the first line investigations for frontotemporal dementia
MMSE (mini mental state examination): score /30. >25 = normal. 18-25 = impaired. <18 = severely impaired. Tests communication, memory, activities of daily life.
Bloods – FBC, U&Es, B12, LFTs (rule out other causes), brain MRI
What are the differential diagnosis for Duchenne muscular dystrophy
Alzheimer’s, Lewy body dementia, vascular dementia, bipolar, OCD
Describe the management for Duchenne muscular dystrophy
No cure. Supportive therapy: carers, occupational therapy, speech and language therapy, stop exacerbating drugs.
SSRIs (selective serotonin reuptake inhibitors) e.g., citalopram, sertraline – behavioural symptoms
Levodopa/carbidopa – Parkinson’s symptoms
Describe the complications for Duchenne muscular dystrophy
Financial crisis, dangerous driving, parenting problems
Define Lambert Eaton Myasthenic syndrome
Rare disorder of neuromuscular transmission caused by impaired presynaptic release of acetylcholine
Describe the aetiology for lambert eaton myasthenic syndrome
Autoimmune attack on presynaptic voltage gated calcium channels
Describe the pathophysiology for Lambert Eaton myasthenic syndrome
Commonly presents with small cell lung cancer. Antibodies against voltage gated calcium channels in small cell lung cancer cells attack voltage gated calcium channels in the presynaptic terminal of the NMJ where motor and nerve cells communicate. When the VGCC are destroyed, less acetylcholine is released into the synapse causing less muscle contractions.
What are the key presentations for lambert eaton myasthenic syndrome
Insidious onset (comes on slowly), proximal muscle weakness, depressed tendon reflexes, gait changes, dry mouth, impotence in males, eyelid drooping (ptosis), dysphagia. Symptoms improve with exertion. Symptoms start at extremities then move to head and neck.
Describe the first line investigations for Lambert Eaton myasthenic syndrome
Serum test for VGCC antibodies (positive). Nerve conduction studies. Nerve stimulation. CT for malignancy
Detection of ACh antibodies indicates myasthenia gravis but some LEMS patients have it too.
What are the differential diagnosis for Lambert Eaton myasthenic syndrome
Myasthenia gravis
Describe the management for Lambert Eaton myasthenia syndrome
Amifampridine (allows more Ach to be released into NMJ).
Plasma exchange, IV immunoglobulin, immunosuppression (prednisolone/azathioprine)
Define Lewy body dementia
Neurodegenerative disorder with parkinsonism, progressive cognitive decline, executive dysfunction, behavioural and sleep problems, and visuospatial impairment. Characterised by presence of Lewy bodies
Describe the aetiology for Lewy body dementia
Lewby bodies deposited in brain
Describe the risk factors for Lewy body dementia
Old age, family history
Describe the pathophysiology for Lewy body dementia
Pathological features: Characterised by eosinophilic intracytoplasmic neuronal inclusion bodies (Lewy bodies) in the brainstem and cortex. Substantia nigra depigmentation and amyloid deposits.
Lewy body dementia is on a spectrum: dementia first then parkinsonism is Lewy body dementia with parkinsonism, parkinsonism as the presenting complaint is Parkinson dementia.
What are the key presentations for Lewy body dementia
Dementia often presents initially: memory loss, spatial awareness difficulties, loss of cognitive function, behavioural problems, visual hallucinations, sleep disorders
Parkinsonism: bradykinesia, rigidity, resting tremor, change in gait
Describe the symptoms for Lewy body dementia
Depression, anxiety, repeated falls
What is the gold standard investigation for Lewy body dementia
International criteria:
1. Presence of dementia with 2 of: fluctuating attention and concentration, recurrent visual hallucinations, spontaneous parkinsonism.
2. If only 1 core feature, diagnosis can be made with a SPECT or PET scan showing low dopamine transporter uptake in basal ganglia
Describe the first line investigations for Lewy body dementia
MMSE (mini mental state examination): score /30. >25 = normal. 18-25 = impaired. <18 = severely impaired. Tests communication, memory, activities of daily life.
Bloods – FBC, U&Es, B12, LFTs (rule out other causes), urine MS+C for infection, brain MRI (generalised atrophy)
What are the differential diagnosis for Lewy body dementia
Parkinson’s disease, Alzheimer’s, frontotemporal dementia, vascular dementia
Describe the management for Lewy body dementia
Supportive therapy: cognitive stimulation, exercise programmes, at-home care.
Cholinesterase inhibitors e.g., donepezil, rivastigmine, to treat cognitive decline
Avoid use of neuroleptic drugs, e.g., haloperidol
Describe the complications for Lewy body dementia
Pneumonia, institutionalisation, urinary incontinence
Define Non-epileptic seizures
Seizures or convulsions caused by abnormal metabolic cirumstances, e.g. low Na+, hypoxia, and not due to epilepsy
Describe the aetiology for non-epileptic seizures
VITAMIN DE: vascular, infection, trauma, autoimmune (e.g., SLE), metabolic (hypocalcaemia), idiopathic > epilepsy, neoplasms, dementia + drugs (cocaine), eclampsia + everything else.
What are the key presentations for non-epileptic seizures
Entirely situational e.g., metabolic disturbances, low Na+, hypoxia. Can be related syncope.
Usually longer than epileptic seizures, with closed eyes and mouth
Do not occur during sleep and do not involve incontinence or tongue-biting.
Pre-ictal anxiety symptoms – they know they are about to happen
Describe the clinical manifestations for non-epileptic seizures
Impaired jerky movements, tunnel vision, paraesthesia, temporary blindness, palpitations, sweating, dry mouth, hyperventilation
What is the gold standard investigation for non-epileptic seizures
Clinical diagnosis + normal EEG + normal CT/MRI
Describe the first line investigations for non-epileptic seizures
Blood tests for underlying cause
Describe the management for non-epileptic seizures
Psychotherapy/CBT. NES do not respond to anti-seizure medications
Define sciatica
Lower back pain and symptoms associated with irritation of the sciatic nerve L4-S3
Describe the aetiology for sciatica
Spinal: IV disc herniation/prolapse, spinal stenosis, spondylolisthesis (anterior displacement of a vertebra out of line with the one below). Non-spinal: piriformis syndrome, tumours, pregnancy
Describe the pathophysiology for sciatica
Sciatic nerve (L4-S3) exits posterior pelvis through greater sciatic foramen and travels down the back of the leg. It divides at the knee to the tibial nerve and common peroneal nerve. It supplies sensation to lateral lower leg and foot. It supplies motor function to posterior thigh, lower leg and foot.
What are the key presentations for sciatica
Unilateral pain from buttock down lateral leg to pinky toe. Weak plantar flexion and absent ankle jerk.
Neurological deficit: leg weakness, sensory loss, bladder and bowel symptoms
Describe the clinical manifestations for sciatica
Paraesthesia, numbness, motor weakness, reflexes affected
What is the gold standard investigation for sciatica
MRI spinal cord (signs of degeneration)
Describe the first line investigations for sciatica
SOCRATES, Physical examination: can’t do straight leg raise test without pain (passive straight leg flexion with knee extended). Lumbar spine x-ray
What are the differential diagnosis for sciatica
Spinal tumour, spinal infection, spinal cord compression
Describe the management for sciatica
1st line – NSAIDs (naproxen/ibuprofen/paracetamol) or Amitriptyline (TCA) or duloxetine (SNRI).
Physiotherapy. Neurosurgery – nerve decompression
Define trigeminal neuralgia
Facial pain in one or more distributions of the trigeminal nerve: ophthalmic, maxillary, mandibular. Usually unilateral
Decrease the epidemiology for trigeminal neuralgia
Increasing age, female, 20x more likely with multiple sclerosis
Describe the aetiology for trigeminal neuralgia
Compression of trigeminal nerve division
Describe the risk factors for trigeminal neuralgia
Triggers: eating, shaving, talking, brushing teeth, cold weather, spicy food, caffeine, citrus
What are the key presentations for trigeminal neuralgia
Spontaneous facial electric shock pain (up to 2 mins) in V1/2/3. Paroxysms of sharp, stabbing, intense pain.
What is the gold standard investigation for trigeminal neuralgia
Clinical, 3 or more attacks with same presentation (paroxysmal sharp stabbing facial pain up to 2 mins)
Describe the further investigations for trigeminal neuralgia
MRI, trigeminal reflex testing, intra-oral testing
Describe the management for trigeminal neuralgia
1st line – carbamazepine (anticonvulsant). Surgery to decompress nerve if nothing else works.
Define upper and lower motor neuron lesions
UMN lesion: lesion of the neural pathway above the anterior horn of the spinal cord or motor nuclei of the cranial nerves.
LMN lesion: lesion which affects neural fibres travelling from the anterior horn of the spinal cord to the associated muscles.
Describe the aetiology for upper and lower motor neuron lesions
UMN lesion: stroke, TIA, ALS, polio, cervical spine injury.
LMN lesion: motor neuron disease, peripheral neuropathy, poliomyelitis, spinal cord injury with nerve root compression
Mixed: multiple sclerosis, motor neuron disease
What are the key presentations for upper and lower motor neuron lesions
UMN: hypertonia, rigidity, spasticity. Hyperreflexia. No fasciculations. Babinski positive (stimulation of lateral foot leads to big toe extension). Power: Arms – flexors > extensors. Legs – flexors < extensors.
LMN: hypotonia and muscle wasting. Hyporeflexia. Fasciculations. Babinski negative (stimulation of lateral foot does not cause big toe extension). Reduced power.
What is the gold standard investigation for upper and lower motor neuron lesions
UMN: brain and spine MRI.
LMN: electromyography and nerve conduction velocity tests.
Define vascular dementia
Chronic progressive decline in cognitive function due to loss of brain parenchyma from cerebrovascular events such as infarction and small vessel changes
Describe the epidemiology for vascular dementia
2nd most common dementia
Describe the aetiology for vascular dementia
Cerebrovascular damage from infarcts – TIA, stroke
Describe the risk factors for vascular dementia
Smoking, history of TIAs, atrial fibrillation, hypertension, T1DM, hyperlipidaemia, obesity, coronary heart disease
What are the key presentations for vascular dementia
Stepwise progression: periods of stable symptoms, followed by sudden increase in severity.
Visual disturbances, UMN signs (muscles weakness, hyperreflexia, clonus – involuntary rhythmic contractions), difficulty solving problems, apathy, disinhibition, poor attention, emotional disturbances, mood changes
What is the gold standard investigation for vascular dementia
Dementia diagnosis + sign of cerebrovascular event
Describe the first line investigations for vascular dementia
History of TIA/stroke? Bloods to rule out cause: FBC, U&Es, LFT, B12, folate, TFTs.
MMSE. Cognitive impairment screen: orientation, attention, language function, visuospatial functions, motor control
CT/MRI – look for previous infarcts
What are the differential diagnosis for vascular dementia
Alzheimer’s, frontotemporal dementia, Lewy body dementia
Describe the management for vascular dementia
1st line – antiplatelet therapy: aspirin or clopidogrel, or anticoagulation therapy: warfarin, rivaroxaban
Supportive therapy and lifestyle changes
SSRIs or antipsychotics to control symptoms, e.g., sertraline or lorazepam
Describe the complications for vascular dementia
Stroke, depression, agitation, wandering, falls
Describe the prognosis for vascular dementia
3-5 years from diagnosis
Define wrist drop
Radial nerve palsy (C5-T1) presenting as wrist drop
Describe the pathophysiology for wrist drop
Radial nerve innervates extensor forearm muscles. Sensory to posterior forearm, lateral and dorsal aspect of hand, dorsal surface of the lateral 3.5 digits
What are the key presentations for wrist drop
Wrist drop, problems straightening arm at elbow, loss of sensation in dorsal hand and lateral 3.5 fingers.
What is the gold standard investigation for wrist drop
Clinical exam + electromyography/nerve conduction studies
Describe the management for wrist drop
1st line – splint and simple analgesia
