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Neuro — Disease Index & Clinical Criteria

Written by Betra Youhanna, a medical student and not a doctor — check every detail against your own teaching.

Disease Index · 99 entries across 13 categories · audited against source PDFs

Criteria & Scores · 42 scoring systems, classifications, and thresholds

C/P — Clinical Presentation
Inves — Investigations
Mng — Management
Special — Pathognomonic / disease-unique

Movement Disorders

14 entries
1

Huntington's Disease

C/P
  • Triad — chorea + cognitive decline + depression/psychiatric
  • Variable onset, death ~15 y after presentation
  • Anticipation — younger onset each generation
Inves
  • Genetic testing — CAG trinucleotide repeat expansion on huntingtin gene, >40 repeats diagnostic (normal 9–36)
  • MRI brain — caudate atrophy
  • PET — decreased basal ganglia metabolism
Mng
  • Tetrabenazine — presynaptic VMAT2 inhibitor, first-line for chorea
  • Sulpiride — dopamine receptor blocker (neuroleptic)
  • Antidepressants — for psychiatric features
  • Multidisciplinary care + counselling
Special
  • Atrophy of caudate + putamen (predominant caudate)
  • Autosomal dominant
2

Hemiballismus

C/P
  • Contralateral subthalamic nucleus infarction
  • Violent, large-amplitude flinging movements of one side of the body
Inves
  • MRI brain — subthalamic nucleus infarction contralateral to symptoms
Mng
  • Treat underlying cause
Special
  • Lesion location — subthalamic nucleus (contralateral)
3

Dystonia

C/P
  • Simultaneous contraction of agonist + antagonist → sustained twisting/abnormal posture
  • Long duration (vs quick jerks of chorea/myoclonus)
  • Focal — blepharospasm, cervical torticollis, writer's cramp (task-specific)
  • Worsened by stress/fatigue; often painful
Inves
  • Clinical diagnosis
  • MRI brain — exclude structural cause in secondary dystonia
  • Genetic testing — for primary hereditary dystonia
Mng
  • Botulinum toxin — blocks ACh release, for focal dystonia
  • Levodopa — for dopa-responsive dystonia (trial)
  • Benzodiazepines + baclofen — adjuncts
  • Surgery — for blepharospasm
  • Speech + physical therapy
Special
  • Sensory trick (geste antagoniste) — light touch to affected area transiently relieves
  • Generalisation in 80% of early-onset dystonia
physiology · background · low-yield
Mechanism
  • Abnormal basal ganglia circuitry → imbalance between direct and indirect pathways → cortical inhibition; loss of motor inhibition at spinal, brainstem and cortical levels
4

Myoclonus

C/P
  • Sudden, brief, shock-like muscle contraction (positive) or inhibition (negative)
  • Usually non-rhythmic
  • Physiologic — sleep jerks
  • Essential — idiopathic/hereditary
  • Epileptic — JME
  • Symptomatic — neurodegenerative (AD/DLB/MSA), metabolic, toxic, focal NS damage, infections, inflammation, paraneoplastic
Inves
  • EMG — distinctive monophasic feature
  • MRI + metabolic screen for symptomatic causes
Mng
  • Treat underlying cause
Special
  • Origin sites — cortex, brainstem, spinal cord
  • Rhythmic myoclonus → cortical origin (epilepsia partialis continua)
physiology · background · low-yield
Other
  • Symptomatic (secondary) myoclonus — arises with an identifiable disorder; commonly associated with cognitive changes + ataxia
5

Essential Tremor

C/P
  • Action tremor
  • Responds to alcohol — characteristic clinical clue
  • Often familial; no overlap with / risk of Parkinson's disease
Inves
  • Clinical diagnosis
  • Exclude thyrotoxicosis, drug-induced (β-agonists, lithium)
Mng
  • Propranolol — β-blocker
  • Neurosurgical lesioning / device implantation / wearable devices — refractory
  • Also gabapentin, topiramate, primidone (in addition to propranolol)
Special
  • Rest+posture+action tremor = Holmes (rubral) or Wilson's, not ET
6

Wilson's Disease

C/P
  • Three-system — hepatic + neurologic + psychiatric
  • Can present as chorea, dystonia, parkinsonism
  • Age 30–40 for neurologic presentation (not children)
Inves
  • Serum ceruloplasmin — LOW
  • 24-h urinary copper — HIGH (>10–30 μg)
  • Free serum copper — increased
  • Slit lamp — Kayser-Fleischer rings
  • MRI brain — T2 hyperintensity in putamen
  • Genetic testing — ATP7B mutation
Mng
  • Dietary copper restriction
  • Zinc salts — block enteric copper absorption
  • Penicillamine (Cuprimine) — chelation
Special
  • Autosomal recessive, ATP7B copper-binding protein defect
  • Kayser-Fleischer rings pathognomonic
7

Tourette Syndrome

C/P
  • ≥2 motor tics + ≥1 vocal tic
  • Onset before 18 y, symptoms >1 year
  • Typical onset 5–10 y, starts head/neck motor tics
  • Tics — premonitory urge + suppressibility; ↑ stress/excitement, ↓ concentration
  • Complex vocal — yelling out a word or phrase
  • Complex vocal tics — echolalia (repeating others), palilalia (repeating self), coprolalia (involuntary swearing, rare)
Inves
  • Clinical diagnosis
  • Rule out secondary — HD, Wilson's, Sydenham's, autism
Mng
  • Symptomatic
Special
  • Suppressibility + premonitory urge — differentiates from other movement disorders
physiology · background · low-yield
Background
  • Tic types — simple motor (blinking, shrugging), complex motor (kicking, jumping), simple vocal (grunting, throat clearing), complex vocal (words/sentences)
8

Parkinson's Disease

C/P
  • Cardinal motor — bradykinesia + resting tremor + rigidity + gait impairment
  • Non-motor 4 domains — autonomic, affective, cognitive, sleep
  • Depression, anxiety, apathy, hallucinations, cognitive impairment, orthostatic hypotension, urinary symptoms, constipation, sleepiness, fatigue
  • Micrographia, mask-like facies, monotonous speech, sialorrhoea, flexed posture, shuffling gait
  • Myerson's sign — failure to habituate glabellar tap
  • No sensory deficit — sensory involvement = Parkinson-Plus
  • Risk factors — pesticides, rural living, TBI
  • Factors LOWERING risk — physical activity, coffee, smoking, NSAIDs
  • Rigidity — cogwheel (lead-pipe rigidity + superimposed tremor) on passive movement
  • Prodromal (pre-motor) — REM sleep behaviour disorder, hyposmia, constipation, depression, anxiety
Inves
  • Clinical diagnosis
  • Levodopa challenge test
  • MRI brain — usually normal
  • PET/SPECT (DAT scan) — for uncertain cases
  • Hoehn & Yahr staging — 1 unilateral only; 2 bilateral, balance intact; 3 bilateral + postural instability, independent; 4 severe disability, still walks/stands unassisted; 5 wheelchair/bedridden unless assisted
Mng
  • Levodopa + carbidopa (DOPA decarboxylase inhibitor, prevents peripheral conversion); "honeymoon" period → dyskinesias + motor fluctuations (on-off, peak-dose, diphasic)
  • Dopamine agonists — pramipexole, ropinirole (oral); rotigotine (patch); apomorphine (SL / SC / inhaled); AE — nausea, leg oedema, orthostatic hypotension, sleep attacks, impulse control disorders
  • MAO-B inhibitors — rasagiline, selegiline; safinamide add-on for off episodes
  • COMT inhibitors — entacapone, opicapone (enhance levodopa duration)
  • Amantadine — NMDA antagonist; approved for levodopa-induced dyskinesia
  • Anticholinergics (benztropine) — for tremor; AE — dementia risk, dry mouth, constipation, urinary retention; avoid in elderly
  • Advanced — DBS, focused ultrasound (MR-guided), levodopa-carbidopa intestinal gel
  • MAO-B inhibitors + SSRIs → serotonin syndrome (contraindicated combination)
  • OFF-period types — morning off, delayed on, wearing off (end-of-dose), sudden off, dose failure
  • Levodopa absorption impaired by a high-protein diet and chronic constipation — both worsen motor fluctuations / OFF periods
Special
  • Substantia nigra pars compacta degeneration → dopamine depletion
  • α-synuclein accumulation in Lewy bodies + neurites
  • PD genes — AD: SNCA, LRRK2, GBA, VPS35 · AR: PRKN, PINK1, PARK
physiology · background · low-yield
Mechanism
  • Greatest cell loss in ventrolateral tier of substantia nigra + caudal putamen; up to 60% of neurons lost before symptoms appear; driven by mitochondrial/proteasomal/lysosomal dysfunction, protein aggregation, oxidative stress, neuroinflammation
  • Dopamine cannot cross BBB → given as precursor levodopa, converted by DOPA decarboxylase in CNS; cleared by MAO (→ DOPAL) and COMT (→ homovanillic acid, HVA)
Background
  • Dopamine agonists — ergot-derived (bromocriptine, pergolide, cabergoline, lisuride) vs non-ergot (apomorphine, pramipexole, ropinirole, rotigotine); act on D2 receptors
Other
  • Dopamine agonist withdrawal syndrome — triggered by dose reduction; agitation, anxiety, depression, fatigue, autonomic symptoms
  • Non-pharmacologic — physical therapy, occupational therapy, speech-language therapy, exercise
Physiology
  • Basal ganglia functions — regulation/initiation of movement, emotional-related movements (mask face), regulation of tone
Epidemiology/Risk
  • Parkinson's is the second most common movement disorder (after essential tremor); diagnosis is mainly clinical
9

Parkinson-Plus Syndromes

C/P
  • Parkinsonism + additional feature excluding primary PD
  • PSP — supranuclear gaze palsy
  • MSA — cerebellar symptoms
  • CBD
  • DLB
Inves
  • Same as PD workup
Mng
  • Symptomatic — poor levodopa response typical
  • Multidisciplinary
Special
  • PD-exclusion criteria — supranuclear gaze palsy, cerebellar symptoms, LL-restricted parkinsonism >3 y (vascular), recent dopamine blocker/depletor, no response to levodopa >600 mg/day, cortical sensory loss
  • Sensory affection = Parkinson-Plus, not primary PD
10

Secondary Parkinsonism

C/P
  • Symmetric parkinsonism, often bilateral onset
Inves
  • MRI brain — vascular changes, hydrocephalus
  • Drug history — reserpine, antipsychotics
  • Metabolic — Wilson's screen
Mng
  • Treat underlying cause
  • Levodopa response usually poor
Special
  • Categories — vascular (cerebral atherosclerosis), traumatic (repeated head trauma), communicating hydrocephalus, drug/toxic (reserpine, manganese, CO), metabolic (Wilson's)
11

Friedreich's Ataxia

C/P
  • Progressive gait ataxia (<5 y from onset)
  • LL areflexia + extensor plantar (Babinski)
  • Dysarthria (cerebellar)
  • Glove-and-stocking hypoaesthesia, loss of vibration + JPS (LL)
  • Pes cavus + hammer toes, mild scoliosis
  • Distal weakness (3/5 vs proximal 5/5)
  • >50% — scoliosis + cardiomyopathy
  • <50% — optic atrophy/nystagmus, deafness (10%), DM (10%), motor restlessness
Inves
  • DNA testing — GAA trinucleotide expansion in frataxin gene
  • Nerve conduction — sensory axonal polyneuropathy
  • Central motor conduction — pyramidal dysfunction
  • MRI cervical cord — atrophic cervical cord
  • MRI brain — usually normal (NAD)
  • Vitamin E level, ceruloplasmin — exclude mimics
Mng
  • Supportive — physiotherapy + speech therapy
  • Treat the congenital heart failure
  • Avoid recumbence complications
  • No disease-modifying treatment
  • Omaveloxolone — first FDA-approved drug for Friedreich's ataxia (Nrf2 activator); Coenzyme Q — antioxidant buffering free radicals from excess mitochondrial iron
Special
  • Autosomal recessive, GAA repeat expansion (frataxin gene)
  • Neuropathology — dorsal column (worse cervical), spinocerebellar tract, DRG loss + large myelinated PN depletion
  • Absent/minimal brainstem/cerebrum/cerebellum abnormality
  • GAA repeat — chromosome 9, first intron of frataxin gene; normal ≤50, FA ~200–1000 repeats (larger expansion → earlier onset)
physiology · background · low-yield
Mechanism
  • Also degenerates cranial nerve nuclei VII, X, XII (facial weakness, speech/swallowing difficulty); cardiac — chronic interstitial myocarditis with hypertrophied fibres losing striations
  • Neuropathology — dying-back axonopathy beginning in periphery, secondary gliosis; loss of large myelinated axons (unmyelinated fibres spared); spinal cord becomes thin
Other
  • OMIM *229300
12

Cerebellar / Sensory / Vestibular Ataxia

C/P
  • Cerebellar (brain) — nystagmus, dysarthria, dysmetria, dysdiadochokinesia, intention tremor, wide-based gait
  • Sensory (nerves) — proprioceptive loss, high-steppage/stomping gait, worse without visual feedback
  • Vestibular (ears) — imbalance
  • Acquired causes — vascular, demyelinating, mass/tumour, post-infectious, toxic (alcohol, drugs)
  • Vestibular — acute unilateral: vertigo + nausea + vomiting; chronic bilateral: unsteadiness only
  • Acquired causes also — immune (paraneoplastic degeneration, gluten ataxia), deficiency (B₁₂, vitamin E), toxic (alcohol, phenytoin), infection (HIV, sporadic CJD, PML), degenerative (MSA cerebellar type C)
  • Sensory ataxia — positive Romberg's sign (instability worsens with eyes closed / feet together as proprioceptive loss forces reliance on vision); worse in poorly-lit environments
Inves
  • MRI brain + cervical cord
  • Copper studies, Vit E level, VEP
  • Genetic testing — hereditary ataxia panel
  • Progressive ataxia workup by age — if <25 y test for FRDA, ataxia telangiectasia, ataxia with vitamin E deficiency (AVED), Refsum's, Wilson's
Mng
  • Treat underlying cause
  • Physiotherapy + balance training
  • Vitamin E — treats vitamin E deficiency ataxia (a treatable cause); otherwise no cure, symptomatic care + adaptive devices
Special
  • Genetic vs acquired — key diagnostic question
  • 3 most common causes of chorea (DDx overlap) — Huntington, Wilson's, antipsychotics
  • Reflexes — absent/reduced in Friedreich's + vitamin E deficiency ataxia; brisk in dominant SCAs + MSA type C
physiology · background · low-yield
Background
  • Harding's ADCA classification (>25 y, negative FH) — ADCA I (ataxia + CNS signs; SCA 1,2,3,4,8,12,17), ADCA II (cerebellar + pigmentary maculopathy; SCA 7), ADCA III (pure cerebellar; SCA 5,6,10,11,14,15,22)
  • Four broad cause categories — congenital, hereditary, acquired/degenerative, sporadic (no FH); congenital examples — cerebral palsy, hydrocephalus, brain tumours
Mechanism
  • Cellular pathogenesis — mitochondrial dysfunction, oxidative stress, abnormal DNA repair, protein misfolding, cytoskeletal protein abnormalities
13

Tardive Dyskinesia

C/P
  • Long-term neuroleptic exposure
  • Typically orobuccal dyskinesia
  • Acute reactions — oromandibular dystonia, oculogyric crisis
Inves
  • Clinical + drug history
Mng
  • Acute — ABC + IV anticholinergics (procyclidine 5–10 mg)
  • Discontinue offending drug
Special
  • Tardive = late-appearing drug reaction
  • Neuroleptics (typical antipsychotics) = classic culprit
physiology · background · low-yield
Other
  • L-dopa-induced (tardive) dyskinesia presents as chorea-like movements
14

Psychogenic Movement Disorders

C/P
  • When to suspect — abrupt onset, variable over time, distractible, inconsistent with known disorders, gait abnormalities, other psychogenic features
Inves
  • Clinical evaluation
  • Rule out organic causes
Mng
  • Psychiatric referral
  • Behavioural therapy
Special
  • Distractible + inconsistent with known movement disorder patterns

Headache & Neurovascular Pain

11 entries
15

Migraine

C/P
  • IHS — episode 4–72 h + 2 of 4 (unilateral, throbbing, mod/severe, aggravated by movement) + 1 of 2 (nausea/vomiting; photo+phonophobia)
  • 4 phases — premonitory → aura → headache → resolution
  • Premonitory (60%) — psychological (depression, euphoria, irritability, drowsiness, restlessness); neurological (yawning, difficulty concentrating, photo/phonophobia, dysphasia); general (food cravings, anorexia, stiff neck, GI, urination, thirst, fluid retention)
  • Aura — 5–30 min (<60 min); visual 99% > sensory 31% > language 18% > motor 6%
  • Aura frequency — Always 18% / Sometimes 13% / Never 69%
  • Basilar aura — dysarthria, diplopia, dysphagia, bilateral visual/sensory symptoms
  • Headache — median 24 h, unilateral 60% / bilateral 40%, throbbing 85%, nausea 90%
  • Chronic ≥15 days/month
  • Osmophobia (smell sensitivity) — migrainous associated symptom
  • Visual aura phenomenology — scintillating scotoma with zig-zag fortification spectra (teichopsia), shimmering/flashing lights and blurring; classically enlarges across the visual field over minutes then fades
  • Common triggers — stress / let-down, menstruation, too much/too little sleep, skipped meals & dehydration, alcohol and dietary (chocolate, cheese, caffeine), weather change (hot/humid/stormy), strong smells (perfume, bleach, solvents), fluorescent / flickering lights & screens
Inves
  • Clinical diagnosis — no imaging with typical history + normal exam
  • Very low yield — 897 CT/MRI = 3 tumours + 1 AVM
  • MRI brain — only if red flags (SNOOP)
Mng
  • Non-pharm — sleep, hydration, regular meals, avoid alcohol/caffeine, stress management, CBT/relaxation/biofeedback/mindfulness/exercise; magnesium/B2/melatonin/CoQ10
  • Abortive simple — paracetamol 1 g PO; NSAIDs (aspirin 600–900 mg, ibuprofen 600–800 mg, naproxen 500–1000 mg, tolfenamic acid 200 mg, diclofenac 50–75 mg)
  • Abortive specific — triptans (sumatriptan, rizatriptan, zolmitriptan, almotriptan, eletriptan, naratriptan, frovatriptan); ergotamine 1–2 mg tab/supp; avoid opiates
  • Anti-emetic adjunct — domperidone, metoclopramide
  • Preventive threshold — ≥5 days/month
  • Preventive first-line — β-blockers (propranolol, atenolol, metoprolol), amitriptyline, SNRI (duloxetine), topiramate, valproate, gabapentin
  • Preventive advanced — flunarizine, verapamil, pizotifen, methysergide, botulinum toxin, candesartan, lisinopril
  • CGRP mAbs (galcanezumab, fremanezumab, erenumab, eptinezumab) — monthly/quarterly SC/IV after failure of 2 conventional preventives ×6 weeks
  • Neuromodulation — external trigeminal nerve stimulation, single-pulse TMS
Special
  • Brainstem "migraine generator" activates trigeminovascular system → neurogenic inflammation
  • Wolff's peripheral vascular hypothesis (historical)
  • Key nuclei — PAG, locus coeruleus, dorsal raphe
  • Featureful (vs "featureless" TTH)
physiology · background · low-yield
Epidemiology/Risk
  • Headache-phase stats — vomiting 55%, photophobia 61–82%, phonophobia 61–97%; median 1.5 attacks/month
Other
  • CGRP mAb side effects — constipation, injection-site reactions, nasopharyngitis
Background
  • Preventive thresholds — discuss at 3–4 days/month, strongly advise at ≥5
16

Tension-Type Headache

C/P
  • Duration 30 min – 7 days
  • 2 of 4 — bilateral, non-throbbing, mild/moderate, not aggravated by movement
  • No nausea/vomiting
  • One or neither of photo/phonophobia (never both)
  • "Featureless" headache
Inves
  • Clinical diagnosis
Mng
  • Simple analgesics — paracetamol, aspirin, NSAIDs
  • Avoid combination analgesics, triptans, opiates, muscle relaxants
  • Preventive — amitriptyline, mirtazapine, topiramate
  • Non-pharm — CBT, relaxation, EMG biofeedback
Special
  • Featureless vs migraine's featureful phenotype
17

Cluster Headache

C/P
  • Severe unilateral orbital/supraorbital/temporal pain
  • 15–180 min per attack
  • Frequency — 1 every other day to 8 daily
  • Ipsilateral autonomic — conjunctival injection, lacrimation, ptosis, miosis, eyelid oedema, nasal congestion, rhinorrhoea, forehead/facial sweating
  • Restlessness/agitation (unlike migraineurs who lie still)
  • Circadian periodicity (associated with REM sleep) + circannual bouts
Inves
  • Clinical diagnosis
  • MRI brain — exclude posterior fossa/pituitary lesion in first presentation
Mng
  • Good efficacy — SC sumatriptan 6 mg (sole)
  • Moderate efficacy — 100% oxygen 7–15 L/min, IN sumatriptan 20 mg, IN zolmitriptan 5 mg
  • Preventive — verapamil, lithium, topiramate, methysergide, corticosteroids
Special
  • Autonomic + agitation = cluster (TAC)
physiology · background · low-yield
Background
  • Circadian peak times — 1 pm–3 pm and 9 pm onwards (linked to REM sleep)
18

Trigeminal Neuralgia

C/P
  • Intense, sharp, stabbing/electric-shock pain
  • One or more divisions of the trigeminal nerve
  • Paroxysmal seconds–minutes, stereotyped
  • Triggered by touch, chewing, cold, wind
  • Distribution frequency — V2 & V3 common (~30–35% each); V1 rare (4%)
Inves
  • MRI (dedicated trigeminal + brainstem cuts) — vascular loop, MS, aneurysm, tumour
Mng
  • Carbamazepine, oxcarbazepine — first-line
  • Second-line — lamotrigine, baclofen, gabapentin
  • Surgical — microvascular decompression for refractory
Special
  • Vascular loop compression = most common aetiology
19

Medication Overuse Headache (MOH)

C/P
  • Headache ≥15 days/month
  • Preceded by ≥3 months regular abortive use
  • Triptans/opioids/combos ≥10 days/month OR simple analgesics ≥15 days/month
  • Resolves within 2 months of discontinuation
Inves
  • Clinical + headache diary
Mng
  • Detoxification
  • Preventive therapy concurrently
Special
  • Cycle broken by detox + preventive together
physiology · background · low-yield
Background
  • Implicated drugs — simple analgesics, NSAIDs, opiates, ergots, triptans
Epidemiology/Risk
  • Chronic daily headache — headache on ≥15 days/month; 3–5% of general population
20

Subarachnoid Haemorrhage

C/P
  • Thunderclap headache — "worst of my life", peaks <1 min
  • Occipital location typical (50–70%)
  • Age of highest risk 40–60 y; 1–4% of ED headaches
  • Sneezing/Valsalva at onset — trigger
  • Nausea/vomiting, photophobia, syncope at onset
  • Neck stiffness, Kernig sign (meningism)
  • Seizures, cranial nerve palsies, hemiparesis, LOC
Inves
  • Non-contrast CT head — 90% sensitivity first 24 h, 50% at 1 wk
  • LP — red cells + xanthochromia; 12 h – 1 wk from onset
  • Angiography — third-line for aneurysm/AVM source
  • Transcranial doppler — vasospasm/ischaemia
Mng
  • Resuscitation — ABC
  • Control blood pressure
  • Transfer to neurosurgical centre
  • Aneurysm securing — coiling (embolization) or clipping
  • Ca-channel blockers — decrease vasospasm
  • Complications — rebleeding, vasospasm, IVH → microemboli → hydrocephalus
  • Mortality — pre-hospital 3–26%, in-hospital 32–67%
Special
  • Most common cause — intracranial aneurysm (70%)
  • Perimesencephalic 10%, AVM 5%, coagulopathy/tumour, idiopathic
  • Aneurysm sites — ACOM, PCOM, carotid bifurcation, MCA, basilar tip, PICA
  • Aneurysm morphology — saccular / fusiform / dissecting / mycotic / oncotic / atherosclerotic
21

Raised Intracranial Pressure

C/P
  • Normal ICP 7–15 mmHg; borderline 20–25; raised >25
  • Holocranial, dull headache — worse on waking, worse on lying, worsened by Valsalva
  • May ease as day goes on (positional variation)
  • Blurred vision, diplopia (VI palsy)
  • Pulsatile tinnitus, papilloedema, focal signs
  • Herniation/coning — III palsy, drowsiness, coma, respiratory arrest
  • Cushing triad — hypertension + bradycardia + irregular respiration
Inves
  • CT / MRI / MRV — identify cause
  • LP — measure + reduce CSF pressure if no focal mass
Mng
  • Osmotic diuretics — mannitol (cytotoxic); dexamethasone (vasogenic)
  • Anticonvulsants if seizures — IV phenytoin, carbamazepine
  • Treat cause
Special
  • Cushing triad = late sign of impending herniation
  • Causes — SOL, CSF obstruction, blocked arachnoid granulations, absorption issues
  • CPP target >70 mmHg — single most important secondary factor for outcome
22

Intracranial Hypotension

C/P
  • Orthostatic headache — upright, relieved by recumbency
  • Bilateral, worse in afternoon
  • Nausea, dizziness, diplopia (VI palsy), neck stiffness, tinnitus
  • Can have thunderclap onset (mimics SAH)
Inves
  • MRI with gadolinium — diffuse pachymeningeal enhancement >80%; tonsillar descent 40%
  • Spinal MRI — extra-arachnoid fluid collection
  • CT myelography — most reliable, localises leak site
  • CSF opening pressure — very low
Mng
  • Post-LP — rest + analgesia
  • Pharmacologic — caffeine, theophylline, corticosteroids
  • Epidural blood patch — may require several
  • Surgery — repair leak if refractory
Special
  • Causes — spontaneous (trivial trauma may not be recalled), iatrogenic (post-LP), traumatic (basal skull fx), CTD (Marfan → dural sac weakness)
physiology · background · low-yield
Mechanism
  • Mechanism — CSF leak → descent of brain → traction on pain-sensitive structures + distortion of cranial nerves
Other
  • Headache may become less postural over time — loses its orthostatic character (diagnostic pitfall)
23

Giant Cell Arteritis

C/P
  • Medium + large-sized artery vasculitis (systemic)
  • >50 y (10× commoner in >80 y), commoner in women
  • 40% coexistent PMR
  • New-onset continuous unilateral headache
  • Jaw claudication — ischaemic masseter pain with mastication/speech
  • Transient or permanent visual loss (optic neuropathy)
  • Scalp tenderness
  • Systemic — anorexia, weight loss, myalgia
  • Signs — palpably thickened, tender temporal artery
Inves
  • ESR >50 mm/h (more sensitive if CRP also elevated)
  • Temporal artery biopsy — gold standard
  • Also — thrombocytosis (raised platelets) and abnormal LFTs
Mng
  • Long-term oral steroids 1 mg/kg
  • Monitor ESR
Special
  • Vascular damage → stenosis + occlusion
  • Visual loss = ophthalmic emergency
24

Idiopathic Intracranial Hypertension (IIH)

C/P
  • Young women with high BMI (classic)
  • Not benign — 10% permanent visual loss
  • Headache 92–94% — fluctuating/permanent, worsened by Valsalva
  • Papilloedema — almost universal
  • Transient visual obscurations, visual loss, diplopia (VI palsy)
  • Pulsatile tinnitus 60% — whooshing/roaring
  • Permanent visual loss via optic nerve atrophy
Inves
  • MRI brain — normal
  • MR venography — exclude sinus thrombosis
  • LP — opening pressure >25 cm H₂O, normal CSF constituents
Mng
  • Weight loss — first-line (underlined)
  • Acetazolamide, topiramate (CAI), furosemide
  • Repeated LP — 15–25 mL/session
  • CSF shunting — if vision threatened
Special
  • Sleep apnoea in same demographic — screen
  • Raised ICP in IIH — reduced CSF absorption; generalised venous hypertension
25

Carotid / Vertebral Artery Dissection

C/P
  • Headache + ipsilateral facial/neck pain
  • Thunderclap onset in ~20%
  • Carotid — often ipsilateral Horner syndrome
  • Signs of cerebral or brainstem/cerebellar ischaemia
  • Risk factors — cervical trauma, Marfan syndrome
Inves
  • Imaging — carotid/vertebral
Mng
  • Anticoagulation
Special
  • Horner's on side of neck pain → carotid dissection
physiology · background · low-yield
Mechanism
  • Pathology — tear in artery wall → intramural blood clot

Cerebrovascular

8 entries
26

Ischaemic Stroke & TIA

C/P
  • Sudden focal neurological deficit
  • FAST — Face/Arm/Speech/Time
  • TIA — transient (<24 h), no infarction
  • Amaurosis fugax — "curtain coming down" (ICA/ophthalmic TIA)
  • Subtypes — small vessel / large vessel / cardio-embolic
  • Territory — ACA (contralateral LL); MCA (contralateral UL/trunk/face); PCA (homonymous hemianopia)
  • NIHSS 0 / 1–4 / 5–15 / 16–20 / 21–42
  • DDx — seizure, systemic infection, tumour, toxic-metabolic, vertigo, conversion, Bell palsy, migraine, syncope, transient global amnesia
  • Basilar artery occlusion → coma if not treated promptly (posterior circulation)
  • TIA now tissue-based — focal brain/spinal cord/retinal ischaemia without infarction, usually <1 h ("mini stroke")
Inves
  • Routine labs — lipid, glucose, CBC, U&Cr, clotting
  • Non-contrast CT — MANDATORY, exclude haemorrhage
  • After 6 h — diffuse hypodensity + sulcal effacement + mass effect
  • Hyperdense MCA sign — early thrombosis
  • CT/MR angiography — LVO detection
  • MRI — more sensitive than CT
  • ECG, carotid duplex, echocardiogram
  • PWI/DWI mismatch (perfusion–diffusion) identifies salvageable penumbra — treat only if a mismatch/penumbra is present
Mng
  • "2,000,000 brain cells die every minute" — TIME IS BRAIN
  • ABC + O₂ >94%; glycaemic + BP control; prevent hyperthermia
  • FS <60 — 1 amp D50
  • BP >185/110 pre-thrombolysis — labetalol IV OR enalapril IV OR nitropaste
  • IV alteplase — up to 4.5 h (ECASS 3); previously 3 h (NINDS)
  • Do not touch patient after rt-PA (bleeding risk)
  • Mechanical thrombectomy — LVO (Carotid, M1/M2, A1/A2), up to 6 h + expanded window in selected cases
  • Combined therapy > IV alone for anterior LVO
  • Thrombolysis exclusions — Hge, anticoagulants, tumors, GIT Hge, high INR, active bleeding
  • TIA — antiplatelet if no cardiac; anticoag if cardiac
  • Secondary prevention — modifiable risk factors, antiplatelet, statin
  • IV alteplase dose — 0.9 mg/kg (max 90 mg); 10% as a bolus over 1 min, remainder infused over 1 h
  • No antiplatelet therapy and no heparin for 24 h post-thrombolysis
  • Door-to-needle ≤60 min target for eligible thrombolysis candidates
  • Onset time = last known well (last time at neurologic baseline) when unwitnessed
Special
  • Penumbra CBF — normal 50; benign oligemia >17; penumbra 17–10; infarct core <10 (mL/100g/min)
  • Treatment path — 1° prev → Acute Rx → 2° prev / Rehab (parallel)
  • Rehab starts day 1
physiology · background · low-yield
Epidemiology/Risk
  • Ischaemic = 87% of all strokes; 3rd commonest cause of death (developed world), ~25% mortality; commoner in men and Black Africans; peaks in the morning
  • Risk factors — modifiable: HTN, smoking, DM, carotid stenosis, dyslipidaemia, obesity, AF, sickle cell disease, other cardiac; non-modifiable: age, sex, FHx, race/ethnicity
  • ~⅓ of ischaemic strokes are due to large-vessel occlusion
  • Rule of thirds — one third die, one third recover completely, one third left with disability
Mechanism
  • Subtype thresholds — small-vessel <20 mm (basal/brainstem penetrators); large-artery ≥50% stenosis; cardio-embolic mostly AF
  • Ischaemic cascade — ↓CBF → anaerobic metabolism, ATP loss, Na⁺/K⁺-ATPase failure → cytotoxic oedema + BBB breakdown; glutamate excitotoxicity → Ca²⁺ influx → proteases/lipases → necrosis
Other
  • Aspirin helps an embolic stroke but kills a haemorrhagic stroke — always exclude bleed on CT first
  • Additional rt-PA contraindications — ischaemic stroke/severe head trauma <3 mo, prior ICH, intracranial neoplasm, GI malignancy/haemorrhage <21 d, intracranial/spinal surgery <3 mo, infective endocarditis, aortic-arch dissection, platelets <100k, INR >1.7 / PT >15 s / aPTT >40 s, therapeutic LMWH <24 h, DOAC <48 h
  • Door-to-needle sub-milestones — physician ≤10, stroke team ≤15, CT ≤25, imaging interpretation ≤45 min
Background
  • Landmark thrombectomy trials — MR CLEAN, ESCAPE, SWIFT-PRIME, REVASCAT, EXTEND-IA
  • Landmark thrombectomy trials (2015) — MR CLEAN, ESCAPE, SWIFT-PRIME, REVASCAT, EXTEND-IA
  • Spastic hemiparetic deformity — UL flexion synergy (adducted/IR shoulder, flexed elbow & wrist, pronated forearm, clenched fist / thumb-in-palm); LL equinovarus foot + striatal toe
27

Watershed Infarction

C/P
  • Bilateral, symmetric weakness (proximal > distal)
  • Prolonged hypotension — cardiac arrest, hypovolaemic shock, intraoperative hypotension
  • Elderly + arterial stenosis + hypotensive episodes + microemboli
Inves
  • MRI brain — ACA-MCA and MCA-PCA watershed borders
Mng
  • Treat underlying hypoperfusion cause
  • Rehabilitation
Special
  • Site — border between cerebral vascular territories (no collaterals)
  • AKA border zone infarct
28

Hypoxic Brain Injury

C/P
  • Failure of O₂ delivery to brain → dysfunction
  • Selective vulnerability — hippocampus + cerebellum > neocortex
  • Depends on patient age (brain maturity) + metabolic rate
Inves
  • MRI brain — bilateral hippocampal + cerebellar signal change
Mng
  • Treat underlying — restore oxygenation/circulation
  • Manage post-anoxic myoclonus, seizures
Special
  • Mech 1 — hypo-oxygenated blood (anaesthesia, low ambient O₂ / diving / CO, status epilepticus, neonatal asphyxia)
  • Mech 2 — circulation arrest; successful resuscitation → ↑ICP → may cause watershed infarction
29

Epidural (Extradural) Haematoma

C/P
  • Traumatic head injury, typically skull fracture
  • Lucid interval — initial LOC → transient recovery → rapid deterioration
  • Ipsilateral pupil dilation — uncal herniation → CN III
  • Rare after 50–60 y — dura becomes more adherent to bone
Inves
  • CT — biconvex (lens-shaped), convex towards brain, doesn't cross sutures
Mng
  • Urgent surgical evacuation
  • Craniotomy (NOT craniectomy) — no oedema, bone flap replaced
Special
  • Arterial bleed — middle meningeal artery (at pterion)
  • CPP target >70 mmHg for outcome
physiology · background · low-yield
Epidemiology/Risk
  • Mean age 20–30 y (dura still strippable); rare >50–60 y as dura adheres to bone
Background
  • Historical "sterile matchstick" technique — temporarily blocked foramen spinosum to occlude the MMA
30

Subdural Haematoma

C/P
  • Rupture of bridging veins
  • Elderly + dementia + brain atrophy at risk
  • Develops slowly (venous bleed)
  • Acute — rapid deterioration post-trauma
  • Chronic — slowly progressive hemiparesis, memory deficits, headache
  • Chronic SDH clinically mimics stroke
Inves
  • CT — crescent-shaped (concavo-convex), concave toward brain
  • Acute = hyperdense; chronic = hypodense
  • CT — crosses suture lines (spreads over the whole hemisphere), unlike EDH
Mng
  • Acute — <1 cm conservative; ≥1 cm decompressive craniectomy + duroplasty
  • Chronic — burr-hole drainage
  • Reverse anticoagulation
Special
  • Chronic SDH — dural fibroblasts + vascular granulation tissue
physiology · background · low-yield
Epidemiology/Risk
  • Most common type of traumatic intracranial mass lesion
31

Intracerebral Haemorrhage (ICH)

C/P
  • Sudden focal neurological deficit + headache + hypertension
  • Common causes — chronic hypertension, CAA, anticoagulants, metastasis, AVMs
Inves
  • Emergency non-contrast CT — hyperdense parenchymal collection
  • CT/MR angiography — AVM, aneurysm, tumour vascularity
Mng
  • ABC + reverse anticoagulation
  • BP control
  • Neurosurgical consultation — large / posterior fossa / worsening
Special
  • Hypertensive ICH — hyaline arteriosclerosis → lenticulostriate artery rupture → basal ganglia + internal capsule
  • Amyloid ICH — cortical / lobar (see CAA)
physiology · background · low-yield
Other
  • Cerebral contusion — hyperdense streaks on CT; combined ICH+SDH managed conservatively unless enlarging (then evacuate both)
32

Cerebral Amyloid Angiopathy (CAA)

C/P
  • Multiple, recurrent supratentorial cortical/lobar haemorrhages
  • Elderly
  • Associated with Alzheimer's
  • 15% of primary brain haemorrhages
Inves
  • MRI GRE / SWI — cortical microbleeds
  • CT — lobar haemorrhage
Mng
  • Supportive
  • Avoid anticoagulation
  • BP control
Special
  • Amyloid β peptide (Aβ40) deposition in small–medium vessels of cortex + meninges
  • Impaired elimination of β-amyloid → pathogenesis; links to Alzheimer's
  • Vessel wall — media + adventitia of cortical + leptomeningeal vessels; basal membrane thickening, lumen stenosis, elastic lamina fragmentation
  • Fibrinoid necrosis + microaneurysm formation
  • "Double barrel vessel" appearance
33

Carotid Cavernous Fistula

C/P
  • Abnormal shunt between carotid + cavernous sinus
  • Types A–D
  • Classic triad — exophthalmos, chemosis, orbital bruit ("hugging of the eye")
  • Clinical triad — pulsatile exophthalmos, chemosis, orbital bruit
Inves
  • CT / MR / DSA
Mng
  • Endovascular embolisation
  • Balloon occlusion test mandatory before ICA sacrifice — if it fails, do NOT embolise the ICA (target the cavernous sinus); treat by ballooning the ICA or embolising the cavernous sinus
  • Balloon occlusion test mandatory before ICA sacrifice — if failed, do NOT embolise the ICA (embolise the cavernous sinus instead); treat by ICA ballooning or cavernous-sinus embolisation
Special
  • ICA-cavernous shunt classification (types A–D)
  • Barrow types — A = direct high-flow ICA–cavernous shunt (post-traumatic); B = dural ICA branches; C = dural ECA branches; D = dural ECA/ICA branches (B–D indirect)
  • Barrow classification — Type A = direct high-flow ICA–cavernous shunt (post-traumatic); Types B/C/D = indirect dural shunts (spontaneous, low-flow)

MS & Demyelinating

11 entries
34

Multiple Sclerosis

C/P
  • Autoimmune / degenerative disease disrupting CNS myelin
  • Disseminated in space + time; CNS only (peripheral spared)
  • Presenting frequencies — sensory 35%, weakness 20%, ON 15%, cerebellar 10%
  • Presentations — optic neuritis, transverse myelitis, brainstem/cerebellar, cerebral
  • Fatigue — most common symptom
  • Cognitive dysfunction (early)
  • Lhermitte's phenomenon
  • Uhthoff's phenomenon
  • Paroxysmal — MS hug, trigeminal neuralgia, tonic spasms, hemifacial spasm
  • Depression
  • Brainstem/cerebellar syndrome — INO (internuclear ophthalmoplegia) from MLF lesion, nystagmus, broken pursuit, ataxia, Holmes/rubral tremor, dysarthria, oscillopsia
Inves
  • MRI brain + cervical cord (Gd) — ovoid, well-circumscribed, >3 mm periventricular/juxtacortical/infratentorial/spinal
  • CSF — oligoclonal bands (IgG CSF > serum), normal cell count
  • CSF kappa free light chain (kFLC) — 2024 alternative
  • VEP — delayed P100 latency
  • Central vein sign (CVS) + paramagnetic rim lesion (PRL) — 2024
Mng
  • Acute relapse (disabling only) — IV methylprednisolone 1 g/day ×3–5 d OR PO 500 mg/day ×5 d ± plasma exchange or IVIG (no effect on eventual outcome)
  • Injectable DMTs — interferon β (Avonex IM interferon-1a 30 μg/wk; Rebif SC 22 or 44 μg 3×/wk; Betaferon SC 250 μg alt days; Plegridy pegylated); glatiramer (Copaxone)
  • Interferon β — reduces relapse rate 30%, severe relapses 50%, MRI lesions 50–70%; SEs — flu-like, injection site, decreased WCC, LFT dysfunction, hair loss, depression, thyroid
  • Glatiramer MOA — TH1 → Th2 regulatory shift; bystander suppression
  • Oral DMTs — teriflunomide, dimethyl fumarate, fingolimod, siponimod, cladribine
  • Monoclonal DMTs — natalizumab (α4-integrin, VLA-4/VCAM; PML risk 1:500), ocrelizumab (anti-CD20), alemtuzumab (anti-CD52), ofatumumab (anti-CD20 SC)
  • Progressive MS — ocrelizumab (primary), siponimod (secondary)
  • 17 approved DMTs currently
  • Symptomatic — modafinil for fatigue; treat Lhermitte paroxysmal
  • Second-line agent selection by JCV status — natalizumab (JCV−/low index), fingolimod (JCV+/high index), alemtuzumab (JCV-independent)
  • Symptomatic — spasticity: baclofen, tizanidine; bladder: anticholinergics; Lhermitte / paroxysmal: carbamazepine or gabapentin
Special
  • McDonald 2010/2017/2024 — DIS + DIT
  • True vs pseudo-relapse — pseudo = infection or fever ≥24 h
  • 5 disease courses — RIS, CIS, RRMS, SPMS, PPMS
  • RAW vs PIRA
  • Immunopathogenesis 3 steps — activation (APC) → adhesion + transmigration (VLA-4 → VCAM) → reactivation + demyelination
  • Pathogenesis — molecular mimicry, EBV, vitamin D deficiency
  • MS mimics — sensory: CTS, spondylopathy, migraine, epilepsy; optic: toxic-alcohol/B12/ON compression/ischaemic/retinal
  • Not-MS red flags — dementia, dysphasia, seizures, pain, movement disorders; systemic skin lesions; MRI normal; OCB negative; CSF WCC >50 or >100; very steroid-sensitive
  • WML DDx — normal ageing (Fazekas I/II), CADASIL, malignancies, leukodystrophies
  • Genetic — HLA-DR2 association; monozygotic twin concordance 25–35%
  • EDSS (Expanded Disability Status Scale) — gold-standard MS disability scale, 0 (normal) to 10 (death due to MS), across 8 functional systems
  • Paediatric MS — onset before 16 y, 98% relapsing-remitting, EBV-associated, more aggressive onset; first-line interferon-β / glatiramer, natalizumab if highly active
  • Natural history — untreated RRMS → SPMS in 50–60% within 15–20 y; ~14 y on average to become unable to walk 100 m unaided
  • Fingolimod (first oral DMT) — first-dose bradycardia (cardiac monitoring), macular oedema, VZV reactivation, basal cell carcinoma
physiology · background · low-yield
Epidemiology/Risk
  • Onset 15–50 y, peak 20–40 y; F:M 2:1
  • Family risk — 1st-degree relative 1–5% (vs 0.1–0.2% general), sibling 3%, ~20–40× increase over general population
Other
  • MSFC — Timed 25-foot walk (ambulation speed), 9-hole peg test (hand function), PASAT/SDMT (cognition)
  • Predictors of faster disability progression — older age at onset, male sex, initial progressive course, early cognitive impairment, long-tract (vs optic neuritis) onset, incomplete recovery from first relapse
  • WML differential also includes — atherosclerosis, HIV, syphilis, Lyme, CO intoxication, B12 deficiency, central pontine myelinolysis, PML (JC virus), radiotherapy; Virchow-Robin spaces (Fazekas I) are a normal variant
  • Teriflunomide — teratogenic (2-year washout / accelerated elimination; risk via male seminal fluid); breastfeeding contraindicated
  • Natalizumab PML on MRI — large confluent subcortical white-matter lesion, T2/FLAIR-hyperintense/T1-hypointense, no mass effect, often frontal and contrast-enhancing
35

Optic Neuritis

C/P
  • Pain on eye movement
  • Blurred, patchy vision — central scotoma
  • Loss of colour vision (red desaturation)
  • Signs — RAPD, swollen optic disc, decreased VA, abnormal Ishihara
  • Often first presentation of MS
Inves
  • Fundoscopy — swollen disc / normal (retrobulbar)
  • MRI brain + orbits — enhancement of optic nerve
  • VEP — delayed P100 latency
Mng
  • IV methylprednisolone 1 g/day ×3 days → oral taper
  • Refer to neurology for MS workup
Special
  • Painful eye movement + red desaturation + RAPD = classic
36

Clinically Isolated Syndrome (CIS)

C/P
  • First clinical attack of demyelinating disease
  • Can be optic neuritis, myelitis, brainstem syndrome
Inves
  • MRI brain + cord
  • CSF OCBs — positive supports conversion (substitutes for DIT in 2017 criteria)
Mng
  • IV methylprednisolone for acute attack
  • Consider DMT if high risk of conversion
Special
  • 2017 criteria — CIS + DIS + positive OCBs → MS
  • Predictors of conversion — abnormal MRI, +OCBs, motor/multifocal onset
  • Conversion to clinically definite MS — 60–80% with abnormal baseline MRI lesions (over 10–20 y) vs ~20% with a normal baseline MRI
physiology · background · low-yield
Epidemiology/Risk
  • Conversion predictors — female sex, younger age, 1st-degree relative with MS, smoking, low vitamin D3, early cognitive impairment; +OCB with >9 T2 lesions = 57% at 2 y / 86% at 5 y
37

Transverse Myelitis

C/P
  • Acute/subacute bilateral limb weakness + sensory level + sphincter dysfunction
  • Back pain often at onset
Inves
  • MRI spine (Gd) — short segment (MS); long segment >3 vertebrae (NMO)
  • CSF — cells + protein
  • AQP4-IgG — differentiate NMO
  • Serology — SLE, Sjögren's, sarcoid
Mng
  • IV methylprednisolone
  • Plasmapheresis — steroid-refractory
Special
  • Short-segment = MS; long-segment (>3 vertebral) = NMO
  • Causes — para-infectious/viral (herpes, influenza, entero, HIV, hep A), bacterial (mycoplasma, Lyme, syphilis, TB), post-vaccine, MS, idiopathic, systemic autoimmune (SLE, Sjögren's, sarcoid), vascular (AVM, thrombotic, vasculitic), paraneoplastic
38

Neuromyelitis Optica (Devic's Disease)

C/P
  • Severe optic neuritis (often bilateral / sequential)
  • Longitudinally extensive transverse myelitis (>3 vertebral segments)
  • Brainstem syndrome
  • Common in Japan
  • Poor recovery between attacks
Inves
  • AQP4-IgG — highly specific
  • Normal cranial MRI
  • MRI spine — longitudinally extensive lesion
  • CSF — WBC >50 (vs normal cell count in MS); OCB may be +/− present
Mng
  • Acute — pulse steroids ± plasmapheresis
Special
  • AQP4-IgG positivity distinguishes from MS
  • Diagnostic criteria — optic neuritis + myelitis plus 2 of 3: normal brain MRI, longitudinally extensive cord lesion (≥3 segments), AQP4 (NMO-IgG) positive
39

Acute Disseminated Encephalomyelitis (ADEM)

C/P
  • Post-infectious / post-vaccination demyelination
  • Encephalopathy (essential) + multifocal deficits
  • Monophasic + rapid recovery
  • Acute presentation — headache, seizures, meningism, decreased conscious level/confusion, focal CNS signs (hemiplegia, hemianaesthesia)
Inves
  • MRI brain — bilateral asymmetric white matter lesions
  • CSF — pleocytosis, elevated protein
Mng
  • Steroids
Special
  • Encephalopathy + multifocal WM lesions after infection = ADEM
  • Monophasic distinguishes from MS
40

CNS Sarcoidosis

C/P
  • Neurological — optic neuritis 40% (most common), CN VII/VI/VIII 35%, cord 25%, brainstem/cerebellum 20%
  • Aseptic meningitis
  • Parenchymal lesions
  • Systemic — BHL, pulmonary fibrosis
  • Parenchymal involvement — hypothalamic / pituitary deposits, lesions acting as SOLs; also PNS and spinal cord
Inves
  • MRI brain — leptomeningeal enhancement, parenchymal nodules
  • CSF — pleocytosis, high protein
  • Chest imaging — systemic sarcoidosis
  • Biopsy — non-caseating granulomas
Mng
  • Steroids per systemic sarcoidosis
Special
  • Optic neuritis most common CNS presentation (not facial nerve)
physiology · background · low-yield
Epidemiology/Risk
  • Afro-Caribbean predilection; ~10% of sarcoidosis develops neuro involvement; systemic — rash, weight loss, arthralgia, uveitis, parotitis
41

Behçet's Disease (CNS)

C/P
  • Recurrent oral + genital ulcers + uveitis
  • Neuro — parenchymal (brainstem) or non-parenchymal (CVST)
  • Meningoencephalitis, cranial nerve palsies
  • Neuro-Behçet also — myelitis, aseptic meningitis; CVST causes stroke-like episodes + raised intracranial pressure; psychiatric manifestations
Inves
  • MRI brain — brainstem/basal ganglia lesions; MRV for CVST
  • CSF — pleocytosis, elevated protein
  • Pathergy test — 20–22G blunted needle, obliquely 5 mm; erythematous papule >2 mm at 48 h; false positives 0–3%
Mng
  • Steroids + immunosuppression
Special
  • Silk Road / Mediterranean predominance
  • Oral + genital ulcers + uveitis = triad
  • Diagnostic criteria — recurrent oral ulcers (mandatory) + 2 of 4: genital ulcers, uveitis, skin lesions, positive pathergy test
physiology · background · low-yield
Other
  • Uveitis in ~50%; skin lesions — pustular lesions, erythema nodosum; raised inflammatory markers
42

Neuro-SLE

C/P
  • Seizures, psychosis, cognitive dysfunction
  • Stroke
  • Myelitis, cranial neuropathies
  • Systemic — malar rash, arthritis, serositis, renal
  • Neuro-lupus — painless optic neuritis (vs painful MS), chorea, encephalopathy, subacute progressive neuropathy, cerebral vasculitis, transverse myelitis
Inves
  • ANA, anti-dsDNA
  • ESR
  • MRI brain — small vessel disease, infarcts
Mng
  • Per systemic SLE
Special
  • Multisystem autoimmune
physiology · background · low-yield
Other
  • Systemic — haemolytic anaemia / ↓WCC / ↓platelets, pericarditis/endocarditis/myocarditis, pleuritis/effusions, Raynaud's, photosensitivity, discoid rash
43

Sjögren's Syndrome (Neuro)

C/P
  • Sicca — dry eyes + dry mouth
  • Trigeminal neuropathy
  • Peripheral neuropathy
  • Myelopathy, cranial neuropathies
  • CNS features — transverse myelitis, optic neuritis, cerebral vasculitis, seizures, encephalopathy, dementia
Inves
  • Anti-Ro (SSA), anti-La (SSB)
Mng
  • Symptomatic for sicca
Special
  • Sicca + neurological = key clue
  • Overlap with NMO (neuromyelitis optica) — can mimic it
physiology · background · low-yield
Epidemiology/Risk
  • 90% female; primary (sicca syndrome) or secondary to mixed connective tissue disease / rheumatoid arthritis; antibodies anti-Ro/SSA, anti-La/SSB or RF; also arthralgia, myalgia, parotitis
44

Cerebral Vasculitis

C/P
  • Multifocal deficits — recurrent strokes, encephalopathy, headache, seizures
  • Systemic — fever, night sweats, rash, weight loss, arthropathy
  • Primary (CNS-restricted) or secondary (systemic vasculitis)
  • Movement disorders — chorea
Inves
  • MRI brain — multifocal infarcts / haemorrhage
  • CSF — pleocytosis, elevated protein
Mng
  • Steroids + immunosuppression
Special
  • Multifocal strokes in young + systemic inflammation = consider vasculitis
  • Course may be acute, subacute, or relapse-remitting — mimics MS
physiology · background · low-yield
Other
  • Raised inflammatory markers

Trauma & Brain Injury

9 entries
45

Diffuse Axonal Injury (DAI)

C/P
  • Post-trauma coma / vegetative state
  • Major factor in severe disability after trauma
  • Shearing of long connecting axons due to rotational forces
  • Grey-white matter junction affected most
Inves
  • CT + MRI usually normal / minimal findings; changes microscopic
  • MRI indication in DAI (also pregnancy, kids)
Mng
  • ICU supportive care — ICP monitoring, sedation, ventilation
  • Neurorehabilitation
Special
  • Synonyms — shearing injury, inner cerebral trauma
  • Grade I — widespread axonal damage in corpus callosum, white matter, brainstem
  • Grade II — Grade I + focal haemorrhagic abnormalities in corpus callosum
  • Grade III — Grade II + rostral brainstem damage
  • Histology — axonal spheroids ("retraction balls")
  • Post-traumatic dementia — long-term sequela in survivors
physiology · background · low-yield
Background
  • Prognostic MRI performed in DAI to guide outcome estimation
46

Concussion

C/P
  • Transient neurologic dysfunction — LOC, amnesia, confusion, headache, dizziness
  • Rapid onset, spontaneous resolution
Inves
  • Clinical diagnosis
  • CT head — if red flags
Mng
  • Physical + cognitive rest, gradual return to play
  • Simple analgesia
  • Avoid second concussion
  • Observe by a reliable companion for at least 12 hours after discharge from the emergency room
Special
  • Post-concussion syndrome may follow
  • Post-concussion syndrome — headache, irritability, anxiety, poor memory/concentration, fatigue, personality change, insomnia, dizziness, tinnitus, hearing loss, visual changes, light/noise sensitivity
  • GCS 3 with a normal CT usually indicates DAI or a lingering concussion (poor prognosis)
  • Coup–contrecoup mechanism — coup = brain damage directly under the point of impact; contrecoup = damage on the opposite side (the brain rebounds and strikes the far skull after the initial collision). French for “blow” and “counterblow”.
47

Second Impact Syndrome

C/P
  • Second head impact before recovery from first
  • Rapid catastrophic cerebral oedema, malignant swelling
  • Herniation route — medially across falx cerebri OR inferiorly through foramen magnum → brainstem injury → death within 2–5 min
  • Dysfunctional cerebral autoregulation → raised ICP
  • High mortality
Inves
  • CT — diffuse cerebral oedema, effacement of ventricles/basal cisterns
Mng
  • Aggressive ICP management — mannitol/hypertonic saline, decompressive craniectomy
  • Prevention — do not return to play while symptomatic
Special
  • Rapid catastrophic outcome from apparently minor second impact
48

Chronic Traumatic Encephalopathy (CTE)

C/P
  • Progressive neurodegeneration after repetitive head trauma
  • Boxers, contact sports
  • Mood + behavioural + cognitive decline over years
  • Substantia nigra degeneration → parkinsonism (tremor, rigidity, bradykinesia)
  • Cerebellar scarring / nerve cell loss → slurred speech, loss of balance and coordination
Inves
  • Clinical suspicion
  • Post-mortem diagnosis definitive
Mng
  • Symptomatic
  • Prevention — reduce cumulative head impacts
Special
  • Repetitive concussion history = key clue
  • Diffuse neuronal loss → loss of intellect / "Alzheimer's syndrome"; historically termed dementia pugilistica in boxers
49

Skull Fractures

C/P
  • Linear — simple crack
  • Depressed — outer table below normal position of inner table
  • Basal — CSF rhinorrhoea/otorrhoea; Raccoon eye sign (anterior); posterior diastatic (lambdoid suture)
  • Compound — open with scalp laceration
  • Diastatic — paediatric, fracture of skull suture
  • Comminuted — three or more sections
  • Focal — foreign body / open wound
Inves
  • CT head + facial bones
Mng
  • Linear — observation
  • Depressed — surgical elevation (5 steps: remove fragments, expose dural laceration, remove blood, duroplasty repair, secure plates + screws)
  • Basal — usually conservative
  • Duroplasty grafts — autograft (fascia lata), xenograft (bovine pericardium), allograft (artificial)
  • Open / compound fracture (skin broken, bone emerges) — requires surgical intervention
Special
  • Raccoon eye sign = anterior skull base fracture
  • Growing skull fracture — paediatric; dura stuck to skull, kept growing → encephalocele; follow up every 6 months
  • Pneumocephaly — air in intracranial space; complication of basal skull fx; treat with burr hole or scope lavage; watch for herniation
physiology · background · low-yield
Background
  • Growing skull fracture — prefer transcranial US or MRI for soft tissue; if CT needed use low-dose bone window; follow up every 6 months
50

Subgaleal Haematoma

C/P
  • Blood between periosteum + galea aponeurotica
  • Ruptured emissary veins
  • Neonatal delivery (vacuum) or minimal trauma (hair combing/braiding)
  • Potentially lethal in neonates — 50–70% circulating blood loss → hypovolaemic shock / anaemia / coagulopathy / death
Inves
  • Clinical + head circumference tracking (neonates)
Mng
  • Conservative in adults
  • Neonates — aggressive resuscitation, transfusion
Special
  • Neonatal red flag — expanding swelling + shock
51

Traumatic SAH (tSAH)

C/P
  • Trauma-associated subarachnoid blood
Inves
  • CT head
Mng
  • Conservative — monitor for delayed complications
  • BP control, analgesia
Special
  • Complications include hydrocephalus
physiology · background · low-yield
Mechanism
  • Main complication = communicating hydrocephalus — subarachnoid blood clogs the arachnoid granulations, blocking CSF reabsorption
52

Hydrocephalus

C/P
  • Raised ICP features
  • Communicating (arachnoid granulation blockage) vs obstructive (CSF pathway blockage)
  • Sites of obstruction — foramen of Monro, aqueduct of Sylvius, 4th ventricle outlets (Luschka/Magendie)
Inves
  • CT / MRI — ventriculomegaly out of proportion to atrophy, periventricular oedema
Mng
  • External ventricular drain (EVD) — primary acute
  • VP shunt — definitive
  • Treat cause
Special
  • Full CSF pathway — lateral ventricles → foramen of Monro → 3rd → aqueduct of Sylvius → 4th → Magendie/Luschka → subarachnoid space → arachnoid granulations → dural venous sinuses
  • Obstructive causes — SAH, meningitis, tumour, aqueductal stenosis, IVH, inflammatory exudate
  • Non-communicating (obstructive) dilates part of the ventricular system; communicating dilates the entire ventricular system (reduced resorption)
physiology · background · low-yield
Exam technique
  • EVD catheter tip sits in the frontal horn of the lateral ventricle; level the transducer at the tragus (approximates foramen of Monro)
53

Brain Herniation

C/P
  • Subfalcial (cingulate)
  • Transtentorial (uncal) — ipsilateral pupil dilation (CN III compression)
  • Cerebellar tonsillar
  • Coning — respiratory arrest, coma
  • Transcalvarial — brain extrudes through a skull defect / craniectomy site
Inves
  • CT head — midline shift, effacement of basal cisterns
Mng
  • Emergency ICP reduction
  • Decompressive craniectomy
  • Treat cause
Special
  • Ipsilateral fixed dilated pupil = uncal herniation → CN III
  • Cushing triad = imminent herniation
  • Brainstem death — flat EEG + loss of corneal reflex; else craniectomy
  • Subfalcial (cingulate) → compression of the anterior cerebral artery (ACA)
  • Transtentorial (uncal) → posterior cerebral artery (PCA) compression + Duret haemorrhages (pons)
physiology · background · low-yield
Mechanism
  • Uncal pupil dilation occurs early because pupillodilator fibres run superficial in CN III and are compressed first

CNS Infections

5 entries
54

Bacterial Meningitis

C/P
  • Headache + neck/back pain + stiffness + rash
  • Nausea, vomiting, photophobia, altered consciousness, seizures
  • Signs — Kernig, Brudzinski, meningism
  • Bradycardia + papilloedema suggest raised ICP
Inves
  • Bloods — FBC, U&E, glucose, LFT, CRP, clotting, ABG, blood cultures, PCR
  • LP — contraindicated in septic shock or raised ICP
  • CSF findings (bacterial) — high opening pressure, high WCC (neutrophils), low CSF/plasma glucose, high protein
Mng
  • Empiric IV cefotaxime or ceftriaxone 2 g qds — immediate
  • Add IV ampicillin 2 g qds — if >55 y (Listeria cover)
  • Dexamethasone 10 mg qds ×4 days — adjunctive
  • Notify Health Protection Unit
  • Contact prophylaxis — single-dose ciprofloxacin OR rifampicin 600 mg bd ×2 days
  • Vaccines — MenC, ACYW135, S. pneumoniae, Hib
Special
  • Common organisms — Strep pneumoniae + N. meningitidis
  • Bradycardia + papilloedema = raised ICP → hold LP
  • >55 y = add ampicillin for Listeria
55

Brain Abscess

C/P
  • General symptoms + raised ICP + focal deficits
  • Fever variable
Inves
  • MRI with contrast or CT
  • MRV — if suspected sinus thrombosis
  • LP contraindicated in brain abscess
Mng
  • Empiric 3rd-gen cephalosporin + metronidazole (anaerobic cover)
  • Surgical excision / stereotactic aspiration
Special
  • LP contraindicated — mass effect + herniation risk
56

Viral Encephalitis

C/P
  • Prodrome + meningeal irritation + LOC + fits
  • Aetiology — HSV, VZV, measles, enterovirus
Inves
  • Clinical + CSF + MRI
Mng
  • Acyclovir OR ganciclovir ×14–21 days
  • Fever control
  • AEDs
Special
  • HSV predilection for temporal lobes
57

Fungal CNS Infection

C/P
  • Chronic meningitis + encephalitis
  • Venous sinus thrombosis
  • Mycotic aneurysms
  • Granulomas
  • Aetiology — Candidiasis, Aspergillus, Cryptococcus
Inves
  • CSF — fungal culture, India ink (Cryptococcus)
  • MRI brain
Mng
  • Amphotericin B
Special
  • Immunocompromised at risk
58

Rabies

C/P
  • Post-exposure (animal bite — canine)
  • Hydrophobia, aerophobia
  • Encephalitic phase
  • Almost universally fatal once symptomatic
Inves
  • Clinical + exposure history
Mng
  • Post-exposure prophylaxis — rabies vaccine + immunoglobulin (before symptoms)
  • Wound care
Special
  • Once symptomatic → almost universally fatal

Neuromuscular

19 entries
59

Guillain-Barré Syndrome (AIDP)

C/P
  • Often follows an infectious illness
  • Symmetric ascending flaccid weakness
  • Acroparesthesia (fingers/toes) at onset
  • Areflexia — absent knee and ankle DTRs
  • Respiratory involvement — phrenic + intercostal
  • Cranial nerve involvement — bulbar, facial, ocular immobility
  • Optic + acoustic nerves spared (CNS myelin)
  • Nadir by 4 weeks in 90%
  • Bladder/bowel/sexual function usually preserved
Inves
  • CSF — albuminocytologic dissociation
  • Nerve conduction — demyelination, slowed conduction velocity
Mng
  • Plasmapheresis
  • IVIG
  • Steroids DO NOT help
  • ICU + ventilation for respiratory failure
  • Resolves within 3 months
Special
  • Albuminocytologic dissociation = classic CSF
  • Steroids not effective — key distinction from CIDP
physiology · background · low-yield
Epidemiology/Risk
  • Rare trigger — vaccinations against infectious illnesses
Mechanism
  • Treatment MOA — plasmapheresis extracts circulating inflammatory mediators (autoantibodies, complement, cytokines); IVIG blocks the antibodies
60

CIDP

C/P
  • Slowly progressive (>8 weeks — differentiates from AIDP)
  • Proximal + distal weakness, areflexia, sensory loss
  • Does not usually affect cranial nerves or respiratory muscles
Inves
  • CSF — albuminocytologic dissociation
  • Nerve conduction — demyelination
Mng
  • Steroids (unlike GBS, work in CIDP)
  • IVIG
  • Plasmapheresis
Special
  • >8 weeks + steroid response distinguishes from GBS
61

Charcot-Marie-Tooth (CMT / HMSN)

C/P
  • Distal symmetrical weakness + wasting + hypo/areflexia + skeletal deformities
  • LL > UL
  • Delayed motor milestones, "clumsy/slow"
  • Difficulty running, tripping, foot drop, high-stepping gait
  • Deformities — pes cavus, hammertoes, clawed hands, scoliosis
  • "Inverted champagne bottle" leg wasting
  • Sensory less prominent — 20–30% mild pain
Inves
  • Nerve conduction — demyelinating vs axonal; screen relatives
  • Genetic testing — PMP22 CNV (most common), GJB1, MPZ, MFN2
  • Nerve biopsy — sporadic cases, differentiate from CIDP
  • Systemic — DM, thyroid, vitamins, nutritional deficiencies
Mng
  • No disease-modifying treatment
  • Supportive
Special
  • Autosomal dominant most common
  • Pes cavus + hammertoes + inverted champagne bottle = classic
  • Age of onset — early infantile (<2 y), childhood (2–10 y), juvenile (10–20 y), adult (20–50 y), late adult (>50 y)
physiology · background · low-yield
Background
  • 3 main groups — HMSN, hereditary motor neuropathies (HMN), hereditary sensory and autonomic neuropathies (HSN/HSAN)
  • Hand weakness — difficulty buttoning, zipping, writing
  • Rehab — stretching, aerobics, resistance training, timely orthotic devices
Background
  • DDx — CIDP in children, distal myopathies, acquired neuropathies (diabetes/toxins), Friedreich's ataxia; differentiate via immunotherapy response, family exam, genetics/NCS
62

Carpal Tunnel Syndrome

C/P
  • Median nerve compression at wrist carpal tunnel
  • Paraesthesia + pain — wrist to palm, thenar, thumb, adjacent 2–3 fingers
  • Precipitants — forceful repetitive wrist movement
  • Chronic — thenar wasting, weakness of thumb abduction
Inves
  • Tinel sign — percussing ventral wrist → electric shooting
  • Phalen manoeuvre — flexed wrists 90° dorsum-to-dorsum
Mng
  • Steroid injection into carpal tunnel
  • Surgery — incise transverse carpal ligament
  • Rest + wrist splints
  • Diuretics + anti-inflammatory drugs
Special
  • Most common mononeuropathy
63

Ulnar Nerve Injury (Cubital Tunnel)

C/P
  • Compression at ulnar groove of elbow (cubital tunnel)
  • Precipitant — leaning on elbows
  • Atrophy/weakness of hypothenar + intrinsic hand
  • Sensory loss — 4th (medial) + 5th fingers + medial hand
  • Benediction sign / clawing of 4th and 5th fingers
Inves
  • Nerve conduction
Mng
  • Conservative
  • Surgical decompression if refractory
Special
  • Claw hand = ulnar
  • Sat-night palsy = RADIAL not ulnar
64

Radial Nerve Compression

C/P
  • Wrist drop — extensor weakness
  • Saturday-night palsy — spiral groove
  • Sensory loss — dorsum of hand
Inves
  • Nerve conduction
Mng
  • Conservative — most recover
Special
  • Compression at or distal to spiral groove of humerus spares triceps DTR
  • Wrist drop + Sat-night arm = classic
65

Meralgia Paresthetica

C/P
  • Lateral femoral cutaneous nerve entrapment under inguinal ligament
  • L2–3 sensory roots
  • Numbness + burning — large oval patch lateral thigh (not above hip or below knee)
  • Predisposing — obesity, pregnancy, tight clothing, heavy utility belts
  • Purely sensory
Inves
  • Clinical diagnosis
Mng
  • Behaviour modification — weight loss, loose clothing
Special
  • Pure sensory + oval lateral thigh distribution
66

Mononeuritis Multiplex

C/P
  • Simultaneous or stepwise development of multiple peripheral nerve injuries
  • Example — left radial + right sciatic + right CN III
  • Abrupt onset pain + weakness
  • Systemic causes — DM, vasculitis (SLE, PAN), sarcoidosis, Lyme, lead intoxication
  • Leprosy — common in Africa + Asia
Inves
  • Vasculitis + systemic workup
Mng
  • Treat underlying cause
Special
  • Non-contiguous multiple nerves + systemic disease
66b

Plexopathy

C/P
  • Injury involving multiple nerve distributions within a single limb
  • Causes of plexus injury (4) — trauma; structural abnormalities; neoplastic infiltration; inflammatory processes
  • Neurogenic thoracic outlet syndrome: compression of the lower trunk / C8–T1 roots (often by an extra/cervical rib) → aching pain along the medial aspect of the upper limb + weakness of the intrinsic hand muscles
  • Cancer-related plexopathy (breast / lung) mechanisms (3) — surgical trauma; metastatic tumour spread; radiation injury; metastatic spread most commonly affects the lower trunk
Special
  • Key distinction in a cancer patient: radiation plexopathy is usually painless, whereas metastatic recurrence is highly painful (tumour infiltration more likely to cause pain than radiation injury)
67

Myasthenia Gravis

C/P
  • Fatigable weakness — worse in evening, worse with exercise
  • Proximal > distal
  • Ocular — ptosis, complex ophthalmoplegia, diplopia
  • Bulbar — dysphagia
  • Neck flexion weakness
  • Sensory + reflexes normal
Inves
  • Neurophysiology — repetitive stimulation + single fibre EMG
  • CT chest — thymoma / thymic hyperplasia
  • Aspiration risk assessment
  • Acetylcholine receptor antibody (ACh Ab) + MuSK antibody
Mng
  • Multidisciplinary
  • Pyridostigmine — acetylcholinesterase inhibitor
  • Immunosuppression
  • Thymectomy — sometimes curative
Special
  • Fatigability + no sensory/reflex loss + ptosis + diplopia = MG
  • Thymoma → thymectomy potentially curative
68

Duchenne Muscular Dystrophy (DMD)

C/P
  • Commonest dystrophy, 1 in 3500 boys, X-linked
  • Onset 3–6 y after normal development
  • Proximal muscle weakness
  • Gowers sign — walks hands up own body from squatting
  • Calf hypertrophy
  • Cognitive/behavioural — low IQ, autism, ADHD
  • Cardiomyopathy
  • Complications — joint contractures, scoliosis, cardiac failure, respiratory muscle failure
Inves
  • Serum CK — very raised, up to 10,000 (normal <200)
  • Genetic testing — deletions 70% (MLPA); point mutations 30% (sequencing)
  • Absent dystrophin on immunostaining
  • ECG + echo
  • Carrier testing for female relatives
Mng
  • Multidisciplinary care
  • Deflazacort — FDA-approved disease-modifying drug
  • Exon-skipping therapy (FDA-approved gene-modifying)
  • Regular echo
  • ACE-inhibitor + carvedilol at age ≥10 y for cardiac prophylaxis
  • Physiotherapy + splints + surgery for contractures
  • Respiratory muscle rehabilitation
  • Genetic counselling
Special
  • Gowers sign + calf hypertrophy + CK up to 10,000 = DMD
  • Absent dystrophin vs partially functional in Becker
physiology · background · low-yield
Background
  • Speech + cognitive therapy (for comorbid autism/ADHD)
Mechanism
  • Exon-skipping mechanism — antisense oligonucleotide (AON) hides exon 51 from the splicing machinery to restore the dystrophin reading frame
69

Becker Muscular Dystrophy

C/P
  • Milder form (in-frame mutation → partially functional short protein)
  • Onset ~age 6, occasionally as late as 30s
  • Wheelchair 20s or later
  • May have normal lifespan
  • Cardiomyopathy — most common cause of death
Inves
  • CK elevated
  • Genetic testing — in-frame mutation
Mng
  • Cardiac surveillance
  • Multidisciplinary rehab
Special
  • In-frame mutation → milder phenotype
70

Myotonic Dystrophy

C/P
  • 2 types — DM1 (most common), DM2 (PROMM)
  • Anticipation across generations
  • Muscle — dystrophy + myotonia (delayed relaxation)
  • Cardiac — arrhythmias
  • Eye — cataracts
  • CNS — hypersomnia, mental retardation
  • Endocrine — hypogonadism, insulin resistance
  • Frontal balding
  • Hatchet facies — atrophy of temporalis muscle
  • Ptosis + drooping mouth
  • Sternocleidomastoid wasting
  • Gynaecomastia
Inves
  • Genetic testing — CTG repeat expansion in DMPK gene (50–4000 repeats)
  • Repeat size correlates with onset + severity
Mng
  • Multidisciplinary
Special
  • Anticipation across generations
  • Myotonia + distal weakness + hatchet facies + cardiac disease = DM1
71

Facioscapulohumeral Dystrophy (FSHD)

C/P
  • Dominant inheritance (either parent, or sporadic)
  • Onset by age 20
  • Facial weakness — orbicularis oris
  • Scapular winging + pain in upper shoulder
  • Sparing of deltoid — characteristic
  • Often asymmetric
  • Abdominal/truncal + ankle dorsiflexion
  • CK mildly elevated
Inves
  • Genetic testing — chromosome 4q35 (FSHD1, 95%); SMCHD1, DNMT3B, LIRF1 (FSHD2, 5%)
  • Inappropriate DUX4 expression
Mng
  • Supportive
Special
  • Sparing of deltoid + scapular winging + orbicularis oris + asymmetric = FSHD
72

Limb Girdle Muscular Dystrophy (LGMD)

C/P
  • >30 types
  • Weakness of shoulders + upper arms + pelvic area + thighs
  • Shared — progressive proximal weakness, high CK, myopathic pattern
  • Cardiac and/or respiratory possible
Inves
  • CK elevated, myopathic EMG
  • Muscle biopsy — fresh frozen, IHC for structural protein deficiency
  • LGMD gene panel
Mng
  • Supportive
  • Gene therapy trials — LGMDR2, LGMDR3, LGMDR4
Special
  • Proximal limb girdle weakness with normal face/distal = LGMD
73

Congenital Myopathy

C/P
  • Onset neonatal period
  • Reduced fetal movements
  • Floppy infant, frog-like posture
  • Difficulty sucking, delayed motor milestones
  • High-arched palate
  • Joint contractures, lordosis, scoliosis, rigid spine
  • Subtypes — Nemaline, Central core, Centronuclear, Congenital fibre-type disproportion, Myosin storage
  • CMD categories — Collagen VI, Merosin, α-dystroglycan (Walker-Warburg)
Inves
  • Serum CK — usually normal
  • EMG — myopathic
  • Muscle biopsy — histopathological hallmarks (rods in nemaline, cores in central core)
  • Genetic testing
Mng
  • Supportive
Special
  • Normal CK + histopathological hallmarks (rods, cores) = congenital myopathy
physiology · background · low-yield
Background
  • Diffuse muscle atrophy
74

Dermatomyositis

C/P
  • Most common inflammatory myopathy in childhood
  • Adults — associated with malignancies
  • Proximal weakness
  • Heliotrope rash — round eyes, eyelids, face
  • Gottron's papules — on knuckles, fingers
Inves
  • CK elevated — useful for monitoring
  • Clinical + muscle biopsy
  • Muscle biopsy — B cell mediated antibody against capillary membranes → vasculitis
  • Myositis-specific antibodies
Mng
  • Immune suppressive treatment
Special
  • Heliotrope + Gottron's + proximal weakness = DM
  • B-cell mediated vasculitis (vs CD8+ T-cell in PM)
75

Polymyositis

C/P
  • Proximal weakness
  • No skin findings (unlike DM)
Inves
  • CK elevated
  • Muscle biopsy — mononuclear cells surrounding + invading nonnecrotic fibres in endomysium
  • CD8+ T-cell mediated
  • Myositis-specific antibodies
Mng
  • Immune suppressive treatment
Special
  • CD8+ T-cell attack on nonnecrotic fibres in endomysium
76

Inclusion Body Myositis (IBM)

C/P
  • Age >50 (in 80%)
  • Distal weakness > proximal
  • May be asymmetric
  • Long finger flexors + quadriceps + ankle dorsiflexors
Inves
  • Muscle biopsy
Mng
  • Supportive
Special
  • Long finger flexors + quads + ankle DF + asymmetric + >50 y = IBM

Epilepsy & Seizures

4 entries
77

Epilepsy (Focal & Generalised)

C/P
  • 2+ recurrent, unprovoked paroxysms of excessive/uncontrolled neuronal discharges
  • Seizure = intermittent, stereotyped, spontaneous cortical discharge
  • Disturbances — consciousness, behaviour, emotion, motor, sensation
  • Focal — aware (simple) vs impaired awareness (complex)
  • Temporal — epigastric aura, déjà vu, jamais vu, automatisms, post-ictal confusion
  • Frontal — nocturnal, brief, bizarre motor, Jacksonian march, quick recovery
  • Parietal — sensory aura
  • Occipital — visual aura
  • Generalised — tonic-clonic, absence, myoclonic, tonic, atonic
  • Tonic-clonic — LOC, tonic then clonic, tongue biting, incontinence, Todd's paresis
  • Absence — brief LOC (5–20 s), staring, no post-ictal, children
  • Myoclonic — brief shock-like jerks (JME)
  • Absence — provoked by hyperventilation (diagnostic activation)
  • Frontal semiology — fencing posture, versive (head-turning) movements, pelvic thrusting & vocalisation (often misdiagnosed as PNES)
Inves
  • EEG — interictal spikes, ictal EEG
  • MRI brain (epilepsy protocol) — structural (MTS, tumour, vascular malformation, cortical dysplasia)
  • Bloods — glucose, electrolytes, calcium
  • ECG — exclude syncope
  • MRI indications — onset <2 yrs or in adulthood, focal onset, or refractory to first-line; not routine in idiopathic generalised epilepsy; CT if acute neurological lesion suspected
  • EEG supports but cannot exclude a diagnosis (routine sensitivity 25–55%; up to 50% have a normal interictal EEG); modalities — routine, sleep/sleep-deprived, ambulatory, inpatient video-telemetry
Mng
  • Focal first-line — carbamazepine, lamotrigine, topiramate, oxcarbazepine, valproate, phenytoin, levetiracetam
  • Generalised tonic-clonic — valproate, lamotrigine, levetiracetam
  • Absence — ethosuximide, valproate, lamotrigine
  • Myoclonic — valproate, levetiracetam, topiramate, clonazepam
  • Atonic — valproate, lamotrigine
  • New drugs — brivaracetam, cenobamate, cannabidiol, eslicarbazepine, perampanel, retigabine
  • Clonazepam long-acting — absence, atonic, myoclonic
  • AED MOA — Na+ channel blockers, Ca2+ channel blockers, K+ channel openers, GABA transaminase inhibitors, GABA transporter, GABA-receptor modulators, synaptic release modifiers
  • Meds lowering seizure threshold — bupropion, TCA, phenothiazines, clozapine, theophylline, isoniazid, penicillins, cyclosporin
  • Pregnancy — 96% normal children; all AEDs ↑ malformation risk; tonic-clonic → ICH, fetal bradycardia, ↓IQ
  • Surgical — 70% temporal lobe resections → 70% seizure-free
  • Ketogenic diet — refractory paediatric
  • Vagal nerve stimulation
  • Driving — per local regulations
  • Avoid precipitants — alcohol, drugs, fatigue, flickering light, fever
  • Start AED generally after the 2nd seizure (or 1st unprovoked if high recurrence risk); no AED for a clearly provoked single seizure (alcohol/illness)
  • Drug-resistant epilepsy = failure of ≥2 AEDs → surgical/specialist referral (also structural lesion — tumour/AVM)
  • Pre-pregnancy — switch off valproate to lamotrigine/levetiracetam; folate 0.4–5 mg/day
  • AED withdrawal — after ≥2–3 yrs seizure-free (~50% recurrence); taper slowly, one drug at a time (benzodiazepines/barbiturates over ≥6 months)
  • Infantile spasms (West syndrome) — first-line ACTH or oral corticosteroids; vigabatrin preferred if associated tuberous sclerosis
Special
  • AED SEs — Phenytoin (nystagmus, ataxia, gingival hyperplasia, megaloblastic anaemia) · Carbamazepine (diplopia, vertigo, neutropenia, drowsiness, hyponatraemia) · Oxcarbazepine (hyponatraemia, osteoporosis) · Valproate (tremors, weight gain, alopecia, GI, hepatotoxicity, PCOS, pancreatitis, teratogenicity) · Topiramate (cognitive slowing, nephrolithiasis, weight loss, angle closure glaucoma) · Lamotrigine (rash → slow titration) · Levetiracetam (irritability, behavioural changes)
  • Carbamazepine SJS — HLA-B*1502 allele (esp. Asian)
  • Phenytoin — purple glove syndrome
  • Carbamazepine induces own metabolism → serum drops after weeks
  • Todd's paresis differentiates from stroke
  • Na⁺-channel blockers (carbamazepine, oxcarbazepine, phenytoin, gabapentin, pregabalin, tiagabine, vigabatrin) can exacerbate absence & myoclonic seizures / JME — avoid
  • Vigabatrin — irreversible visual field constriction (reserved, specialist use only)
  • SUDEP — Sudden Unexpected Death in Epilepsy
  • Valproate most teratogenic (9–10% vs 1–2% background; 1 AED 3–4%, 2 AEDs 5–6%); safest — lamotrigine & levetiracetam; defect types — neural tube, cardiac, GU, oral clefts
  • Phenytoin — zero-order (saturable) kinetics; small dose increase → large plasma rise → toxicity
  • Vigabatrin — irreversible retinal dysfunction (needs visual-field monitoring); may cause depression / psychosis
physiology · background · low-yield
Epidemiology/Risk
  • Temporal lobe = most common focal epilepsy; frontal = 2nd most common
  • 20–30% of adults labelled epileptic are misdiagnosed (often cardiac syncope; Zaidi study — 41.9% had an alternative cardiological diagnosis)
  • Causes by age — children: inherited syndromes/congenital malformations/infection/trauma; young adults: head trauma; middle age: stroke/tumour/trauma; elderly: stroke/Alzheimer's; ~60% no identifiable cause
Background
  • Nomenclature — 'grand mal' (tonic-clonic), 'petit mal' (absence), 'drop attacks/astatic' (atonic)
  • Dravet syndrome — severe myoclonic epilepsy of infancy, SCN1A (Nav1.1) mutation; treat with stiripentol + clobazam/valproate
  • Lennox-Gastaut atonic drop attacks — clobazam, rufinamide (rufinamide contraindicated in familial short-QT syndrome)
  • Start AEDs after the second seizure; monotherapy preferred with cross-titration when switching
Physiology
  • EEG waves — beta (alert), alpha (relaxed), theta (drowsy), delta (deep sleep)
Mechanism
  • Ketogenic diet — anti-seizure effect of ketosis (β-hydroxybutyrate); low-carb/high-fat; >50% get >50% seizure reduction
Other
  • Non-epilepsy AED uses — neuropathic pain, trigeminal neuralgia, psychiatric disorders
  • Epileptogenic granulomas on MRI — tuberculoma, cysticercosis (plus ganglioma, cavernous angioma)
78

Status Epilepticus

C/P
  • Convulsive — continuous seizure OR ≥2 without full recovery
  • Nonconvulsive — altered mental status with EEG-confirmed ictal activity
  • Refractory — fails first + second-line
  • ≥5 min continuous seizure (current operational definition; historically >20 min) — most seizures self-terminate <2 min
Inves
  • Bedside glucose, bloods (glucose, U&E, calcium, magnesium, AED levels, toxicology)
  • ECG, CT head, LP if fever/meningism, EEG if refractory/nonconvulsive
Mng
  • Community — buccal midazolam OR PR diazepam
  • Hospital with IV access — IV lorazepam OR IV diazepam
  • Second-line — IV phenobarbital OR IV phenytoin
  • Refractory — ICU with IV midazolam / propofol / thiopental sodium infusion, continuous EEG
  • First-line (5–10 min) — IV lorazepam 0.1 mg/kg (max 4 mg, repeat once at 4 min) or IM midazolam 10 mg
  • Second-line established SE (10–15 min) — IV levetiracetam 60 mg/kg, (fos)phenytoin 20 mg/kg, or valproate 40 mg/kg
  • Refractory — RSI + anaesthetic infusion; options incl. propofol, midazolam, ketamine, lacosamide, phenobarbital
Special
  • NICE 2012 staged approach
physiology · background · low-yield
Other
  • Initial stabilisation mnemonic — ABCDEFG ('ABCs and Don't Ever Forget the Glucose')
79

Vasovagal Syncope

C/P
  • Prodrome — nausea, sweating, pallor, blurred vision
  • Triggers — prolonged standing, emotion, pain, warm environment
  • Brief LOC with rapid recovery
  • Brief myoclonic jerks possible (mimics seizure)
  • TLoC due to cerebral hypoperfusion (global) — not cortical discharge
  • Situational/reflex triggers — cough, micturition
  • Cardiac syncope — sudden onset ('drops like a stone'), no prodrome
Inves
  • ECG — exclude cardiac
  • Head-up tilt test — vasodepressor / cardioinhibitory response
  • Echocardiogram if cardiac suspected
Mng
  • Trigger avoidance
Special
  • 50% experience TLoC at some point
  • Cardiac causes commoner in elderly (incidence 6%, recurrence 30%)
  • Vasovagal commoner in adolescence
  • Structural DDx — aortic stenosis, cardiomyopathy, RV dysplasia
  • Arrhythmia DDx — VT, Brugada, long QT, AV block
  • Syncope vs GTCS — duration <30 s vs 1–2 min; jerking 20–80% vs always; tongue bite rare vs common; post-ictal <30 s vs 2–30 min
  • Pale in syncope vs cyanosed in seizure; tongue bite tip (chin drop) vs lateral in epilepsy
  • Convulsive-syncope jerks — multifocal, non-rhythmic (jerks during syncope do NOT mean it is a seizure)
  • Syncope vs GTCS (cont.) — hypersalivation none (vs common); incontinence quite common (vs common); precipitant ~50% (vs none); fall flaccid/stiff (vs tonic)
80

PNES (Dissociative Seizures)

C/P
  • Non-epileptic attacks with psychogenic origin
  • Features — asynchronous movements, side-to-side head shaking, pelvic thrusting, prolonged >5 min, flailing/thrashing/opisthotonus/wax-and-wane, ictal weeping, precipitated by emotion/stress
  • Consciousness — unresponsive but alpha rhythm on EEG (awake)
  • Tongue bite — tip in PNES vs lateral in epilepsy
  • Carpet burns from thrashing
  • Somatic manifestation of psychological distress; associated — depression, anxiety, somatoform, PTSD, personality & dissociative disorders
Inves
  • Video EEG — gold standard (normal EEG during event)
Mng
  • Psychiatric referral
  • Withdraw AEDs (unless coexistent epilepsy)
  • CBT / psychotherapy / antidepressant medication
Special
  • Full epilepsy vs PNES — precipitating (rare vs emotion/stress); onset (rapid vs gradual); vocalisation (various vs tearfulness); injury (lateral tongue bite/fall vs tip bite + carpet burns); duration (few min vs prolonged variable)
  • Video EEG shows alpha (awake) despite apparent unresponsiveness

Ophthalmology

2 entries
81

Open Angle Glaucoma

C/P
  • Chronic + slowly progressive
  • Silent condition; usually asymptomatic
  • Painless peripheral field loss
  • Risk factors — ↑IOP, aging, +FH (1st-degree), Afro-Caribbeans, corneal thickness <555 μm, high myopia / DM / HTN, eye injury/surgery
Inves
  • Fundus — thinning of neuroretinal rim (pathognomonic); cup:disc ratio
  • Tonometry — raised IOP
  • Humphry visual field test — arcuate scotoma
Mng
  • Prostaglandin analogues (latanoprost, bimatoprost) — first-line; uveoscleral outflow; SE: pigmentation, eyelash growth, stinging
  • β-blockers (timolol) — decrease production; CI: asthma, COPD, heart block
  • Carbonic anhydrase inhibitors (dorzolamide, brinzolamide) — usually combined with β-blocker
  • Selective α2 agonist (brimonidine) — SE: lethargy, dry mouth/eyes, allergy
  • Muscarinic agonists — trabecular outflow
  • Combination — Xalacom, Cosopt, Combigan
  • Laser trabeculoplasty — for OAG
  • Trabeculectomy — new passage between anterior chamber + conjunctival space → bleb
  • Tube shunt surgery — Ahmed Valve, Baerveldt Shunt
  • Requires lifelong (lifetime) medical therapy — silent, slowly progressive lifelong condition needing regular follow-up
Special
  • 90% of glaucoma cases
  • Normal tension glaucoma (NTG) — sub-category of primary open angle glaucoma (optic nerve damage despite normal IOP)
physiology · background · low-yield
Mechanism
  • Glaucoma = optic neuropathy with progressive irreversible vision loss; loss of retinal ganglion cells → disc cupping + visual field loss
  • Pathophysiology — aqueous flows posterior→anterior chamber through pupil, drained via trabecular meshwork; drainage slows/stops → IOP builds → optic nerve damage
  • Wide/open angle between iris and cornea; caused by slow blockage of the drainage canals
Epidemiology/Risk
  • Incidence increases with age — 2% at >40 yrs, 10% at >70 yrs
Other
  • Visual field loss stages — Normal → Early → Advanced → Extreme glaucoma
Background
  • Treatment goal = halt optic nerve damage; reducing IOP is the only proven method; aggressiveness set by damage present + rate of destruction
82

Angle Closure Glaucoma

C/P
  • Sudden pain, blurred vision, coloured halos, frontal headache, N+V
  • Signs — IOP >40 mmHg, hazy cornea, limbal hyperaemia, fixed mid-dilated pupil, shallow AC, closed angle on gonioscopy
  • Risk factors — hypermetropia, cataracts, mydriatics, abnormal iris configuration, Asian ethnicity, elderly females
  • Aetiology — pupillary block, plateau iris syndrome
Inves
  • Tonometry, gonioscopy, slit lamp
Mng
  • Step A — urgent ophthalmology referral
  • Step B systemic — IV acetazolamide 500 mg, PO acetazolamide 500 mg, antiemetics, IV mannitol or oral glycerol
  • Step C topical — β-blockers, selective α2 agonist, pilocarpine 2%, steroids
  • Step D definitive — peripheral laser iridotomy, lens extraction, guarded filtration (trabeculectomy/iridectomy)
Special
  • Ophthalmic emergency — visual loss within hours
physiology · background · low-yield
Exam technique
  • Gonioscopy (mirror + gonio lens) assesses the iridocorneal angle to determine open vs closed
Mechanism
  • High IOP drives fluid into cornea (edema) scattering light → coloured halos; ischaemic sphincter paralysis → fixed mid-dilated pupil

CNS Neoplasms

2 entries
83

Adult CNS Tumours

C/P
  • Progressive focal neurological deficit
  • Seizures
  • Raised ICP — morning headache, vomiting, papilloedema
  • Personality/cognitive change
  • 90% supratentorial in adults
  • Local destruction + oedema + distortion + raised ICP → herniations (subfalcine / tentorial / tonsillar)
  • Posterior fossa / intraventricular (4th-ventricle) tumours → obstructive hydrocephalus — early headache + vomiting
Inves
  • MRI brain with gadolinium — enhancement, oedema, mass effect
  • CT — calcification, haemorrhage
  • Biopsy — histology + molecular
Mng
  • Corticosteroids (dexamethasone) — reduce peritumoural oedema
  • AED for seizures
  • Surgery — gross total excision (convexity meningioma) / subtotal (near eloquent areas) / biopsy (deep-seated — open or stereotactic)
  • Radiotherapy — whole-brain, stereotactic, Gamma Knife
  • Hormone replacement in hypothalamus/pituitary stalk tumours
  • Chemotherapy — adjuvant option
Special
  • Classification — Intraaxial (astrocytoma, ependymoma, oligodendroglioma), Nerve sheath (Schwannoma), Meninges (meningioma), Bone, Metastases, Germ cell / embryonal / lymphomas
  • Gliomas commoner in males; meningiomas commoner in females
  • Ionising radiation — meningiomas / gliomas / nerve sheath
  • Primary CNS lymphoma — immunodeficiency association
  • Heritable syndromes — NF1, NF2, tuberous sclerosis, von Hippel-Lindau, Li-Fraumeni, Gorlin's syndrome (PNET)
  • Syndrome → tumour: NF1 → neurofibroma, meningioma, optic nerve glioma; NF2 → meningioma, schwannoma; tuberous sclerosis → SEGA (subependymal giant cell astrocytoma); von Hippel-Lindau → haemangioblastoma; Li-Fraumeni → glioma; Gorlin → PNET
physiology · background · low-yield
Other
  • Bone tumours — chondrosarcomas, aneurysmal bone cysts
Background
  • Heritable syndrome gene loci — NF1 17q11, NF2 22q12, TS 9q34/16p13, VHL 3p35, Li-Fraumeni 17q13 (p53), Gorlin 9q31
  • Surgical assisting tools — microscope (magnification), endoscope (hidden corners), navigation (site orientation + relations to nearby structures), ultrasonic aspirator (suction of tumour tissue)
Epidemiology/Risk
  • Nitroso compounds — cause CNS neoplasms (animal models)
84

Spinal Cord Tumours

C/P
  • Progressive weakness + sensory level + sphincter dysfunction
  • Back pain
Inves
  • MRI whole spine with gadolinium — definitive
  • Biopsy — histology
Mng
  • Surgical decompression + resection
  • Radiotherapy — adjuvant
  • Corticosteroids for cord compression
Special
  • Classification — Extradural (metastatic carcinoma, myeloma, lymphoma) · Intradural extramedullary (meningioma, schwannoma) · Intramedullary (gliomas)
  • Intramedullary in thalamus/brainstem → worse prognosis

Neurointervention

4 entries
85

Arteriovenous Malformation (AVM)

C/P
  • Presentation — haemorrhage, epilepsy, headache, neurological deficit, asymptomatic
Inves
  • CT / MR / DSA
Mng
  • Embolisation — Onyx, NBCA, histoacryl, Glubran
  • Surgery
  • Gamma Knife
Special
  • Multi-modal treatment often needed
86

Cavernous Malformation / DVA / Dural Fistula / Vein of Galen

C/P
  • Cavernous malformation — haemorrhage risk
  • DVA — usually incidental, low bleeding risk
  • Dural AV fistula — variable presentation depending on drainage
  • Vein of Galen malformation — paediatric, heart failure in neonate
Inves
  • MRI / DSA
Mng
  • Case-by-case
  • Embolisation for high-risk
Special
  • Grouped as vascular malformations
87

Refractory Epistaxis (Embolisation)

C/P
  • Systemic cause — HHT (Osler-Weber-Rendu)
Inves
  • Vascular imaging
Mng
  • Conservative first — local pressure, anterior/posterior packing, vasoconstrictors, cautery
  • Internal maxillary artery embolisation for refractory
  • Posterior epistaxis is the key indication — embolise the internal maxillary artery when conservative measures (esp. packing) fail to control it
Special
  • HHT = systemic vascular cause
physiology · background · low-yield
Background
  • Embolisation replaced surgical ligation of the internal maxillary, external carotid, and ethmoidal arteries (first introduced by Sokoloff et al, 1974)
88

Pre-op Tumour Embolisation

C/P
  • Head/neck vascular tumours — nasopharyngeal angiofibroma, paraganglioma (glomus jugulare/vagale/tympanicum/carotid body), haemangioblastoma, meningioma
Inves
  • DSA
Mng
  • Embolisation pre-op — reduces bleeding
Special
  • Balloon occlusion test / iatrogenic carotid injury scope

Spine Degenerative

2 entries
89

Cervical / Lumbar Disc Prolapse

C/P
  • Anatomy — annulus fibrosus + nucleus pulposus
  • Prolapse compresses nerve root
  • Radicular pain, dermatomal sensory + motor deficit
  • Cervical — arm radicular symptoms
  • Lumbar — sciatica
  • Central / posterolateral cervical prolapse can compress the cord (not just the root) → Cervical Spondylotic Myelopathy (CSM) — hyperreflexia (UMN sign) + bilateral lower-limb weakness
Inves
  • MRI spine
Mng
  • Conservative — analgesia, physiotherapy
  • Operative — discectomy for refractory / progressive neurology
  • Myelopathic signs (hyperreflexia + LL weakness) → conservative (physiotherapy / local injection) is contraindicated; surgical decompression — ACDF or laminectomy is the gold standard to prevent permanent deficit / progression
Special
  • Double-crush syndrome — proximal compression predisposes to distal entrapment
physiology · background · low-yield
Background
  • C5–C6 disc compresses the C6 root → pain radiates to lateral forearm + thumb; C7 → middle finger; C8 → small finger (medial)
90

Cervical Canal Stenosis

C/P
  • Myelopathy — spastic paraparesis, sensory disturbance, sphincter symptoms
  • Radiculopathy at levels of stenosis
Inves
  • MRI cervical spine
Mng
  • Conservative vs operative decompression
Special
  • Chronic cord compression risk

Cortical Syndromes

2 entries
91

Cortical Blindness / Anton's Syndrome

C/P
  • Bilateral parieto-occipital lesions → cortical blindness
  • Anton's syndrome — denial of blindness (anosognosia)
  • Denial accompanied by confabulation and visual hallucinations — patient is unaware of the impairment and fabricates their surroundings
Inves
  • MRI brain
Mng
  • Treat underlying cause (stroke, hypoxic injury)
Special
  • Denial of blindness pathognomonic for Anton's
  • Pupillary light reflex intact/NORMAL despite blindness — pupillary fibres terminate in the midbrain, bypassing the cortex; distinguishes cortical from ocular blindness
physiology · background · low-yield
Background
  • Anton's syndrome localises to the striate and parastriate cortices (bilateral occipital), not parieto-occipital
92

Prosopagnosia

C/P
  • Face blindness
  • Bilateral occipito-temporal lesions
Inves
  • MRI brain
Mng
  • Compensation strategies
Special
  • Recognise voices/gait despite face-blindness

Cord & Brainstem Syndromes

2 entries
93

Brown-Séquard Syndrome (Cord Hemisection)

C/P
  • Hemisection of spinal cord — one side damaged
  • At level (ipsilateral) — loss of all sensation in corresponding dermatomes; flaccid paralysis (LMN) + loss of reflexes
  • Below level (ipsilateral) — UMN signs (spasticity, hyperreflexia, upgoing plantar) from corticospinal damage; loss of vibration, JPS, fine touch, pressure from dorsal column damage
  • Below level (contralateral) — loss of pain + temperature from spinothalamic tract
  • Above lesion — cutaneous hyperaesthesia (dorsal root irritation)
  • Horner's syndrome if cervical (sympathetic involvement)
Inves
  • MRI spine — cord lesion
Mng
  • Treat underlying cause (trauma, tumour, demyelination)
Special
  • Dissociated sensory loss — ipsilateral proprioception + contralateral pain/temp = pathognomonic
94

Lateral Medullary Syndrome (Wallenberg)

C/P
  • Lateral medullary infarction (PICA territory)
  • 4 lateral "S" structures affected — Spinocerebellar (ipsilateral ataxia), Spinothalamic (contralateral pain/temp loss), Sensory nucleus of CN V (ipsilateral facial pain/temp loss), Sympathetic pathway (ipsilateral Horner's)
  • CN nuclei — CN IX/X → dysphagia, dysarthria, uvular deviation
Inves
  • MRI brain — lateral medullary infarct
Mng
  • Acute stroke management
Special
  • 4 "S" structures = pathognomonic pattern
  • Ipsi facial + contra body pain/temp loss = classic dissociated pattern

Additions — Approach & OSCE

5 entries
95

Neurovascular Imaging (Doppler / MRA / CTA / DSA)

Inves
  • Doppler US — first-line screening; real-time haemodynamic data, images arterial wall/plaque; non-invasive, no radiation/contrast, portable, bedside. Limits: operator-dependent, obesity/gas/kinks, calcification post-shadowing, low spatial resolution — not sole method
  • MRA — no radiation, no iodinated contrast, better resolution than Doppler, multiplanar, done alongside MRI. Limits: weak on calcification, MR contraindications (pacemaker/metal), flow/motion artifact. Indicated in renal insufficiency (Cr ≥ 2.0) or iodine allergy
  • CE-MRA vs TOF — contrast-enhanced gives less flow artifact, better spatial resolution, larger field of view
  • CTA — most accurate for calcification/plaque, fast, shows adjacent bone/structures, less invasive than DSA. Limits: irradiating, contrast nephrotoxicity/allergy, metal/bone artifact
  • DSA — gold standard; most accurate, dynamic flow data, permits therapeutic intervention, 3D. Limits: invasive (catheter complications), radiation, contrast, needs specialist team
Special
  • MRA/CTA = static image (camera); DSA = dynamic image (video, shows flow) — DSA remains gold standard for vascular lesions
96

Cortical Lobe Syndromes (Frontal / Parietal / Temporal / Occipital)

C/P
  • Frontal — motor cortex lesion: contralateral spastic mono/hemiplegia; Broca's: expressive dysphasia; frontal-eye-field destructive lesion: eyes deviate towards lesion; paracentral lobule: urinary incontinence
  • Prefrontal syndromes — orbitofrontal: disinhibition, poor judgement, emotional lability; convexity: apathy, poor abstract thought; medial: akinetic, mute, incontinent
  • Parietal — cortical sensory loss (astereognosis, loss of two-point discrimination, sensory extinction); optic radiation → inferior quadrantanopia; non-dominant: anosognosia/hemineglect, dressing & constructional apraxia; dominant Wernicke's: receptive dysphasia
  • Temporal — Wernicke's (receptive) aphasia; superior quadrantanopia ('pie in the sky', Meyer's loop); amusia (non-dominant); aggressive/antisocial behaviour (limbic)
  • Occipital — homonymous hemianopia with macular sparing; cortical blindness (bilateral, pupil light reflex preserved); achromatopsia
Special
  • Gerstmann syndrome (dominant parietal) — finger agnosia, acalculia, agraphia, right-left disorientation
  • Balint syndrome (bilateral parieto-occipital) — optic/oculomotor apraxia + simultanagnosia + visual agnosia
97

Spinal Cord Syndromes (Anterior / Posterior / Central Cord)

C/P
  • Total cord transection — spastic para/quadriparesis + sensory level to all modalities below lesion
  • Anterior cord syndrome — spastic para/quadriparesis + pain/temperature loss below; vibration/proprioception spared (dorsal columns intact)
  • Posterior cord syndrome — vibration/proprioception loss below; pain/temp and motor relatively spared
  • Central cord syndrome (syringomyelia) — cape-like dissociated pain/temp loss (crossing fibres) at lesion level, upper limbs > lower limbs
Special
  • Contrast with Brown-Séquard (cord hemisection) — dedicated entry
physiology · background · low-yield
Background
  • Dermatome landmarks — C6 thumb, C7 middle finger, C8 little finger, T4 nipple, T10 umbilicus, T12/L1 inguinal
98

Neurological History Taking (Approach)

C/P
  • Onset → pathology — dramatic (secs → ICH), sudden (mins → stroke), rapid (days–3 wk → GBS), gradual (wks–yrs → Parkinson's)
  • Course → pathology — vascular sudden + regressive/stationary; infective/inflammatory rapid + regressive; neoplastic & degenerative/hereditary gradual + progressive; intermittent (migraine/epilepsy, symptom-free between) vs remittent (MS, incomplete resolution)
  • Weakness pattern — proximal (can't climb stairs / comb hair → myopathy) vs distal (can't squeeze lemon, foot drop → neuropathy)
physiology · background · low-yield
Epidemiology/Risk
  • Age — 1st–2nd decade muscular dystrophies, 3rd–4th MS, 5th–6th vascular strokes; sex — MG (F), myotonia atrophica (M)
  • Occupational — printers → lead neuropathy, drivers → disc prolapse; urban → migraine, rural → nutritional disorders
Other
  • Red-flag headache associations — cluster (autonomic signs), SAH (syncope / neck stiffness), GCA (visual loss), encephalitis/tumour (seizures)
99

Neuroanatomy Revision — Arterial Territories, Tracts & Basal Ganglia

C/P
  • Arterial territories — ACA: contralateral lower limb; MCA: contralateral UL/face/trunk + speech (dominant → aphasia); PCA: homonymous hemianopia with macular sparing, thalamus/midbrain
  • Brainstem vascular — PICA → lateral medullary (Wallenberg); anterior spinal artery → medial medullary syndrome
Special
  • Tracts — dorsal column (fine touch/vibration/proprioception, decussates in medulla → ipsilateral cord signs) vs spinothalamic (pain/temp, decussates immediately → contralateral); corticospinal decussates at the pyramids
  • Basal ganglia — direct pathway (Go, D1) facilitates movement, indirect (No-Go, D2) inhibits; dopamine (SNc) promotes movement via both; deficiency → hypokinesia/parkinsonism
physiology · background · low-yield
Microbiology
  • Herpes zoster (shingles) — reactivation in the dorsal root ganglion → severe dermatomal pain
Physiology
  • Rexed laminae — I–IV sensory (II = substantia gelatinosa), IX motor; BG neurotransmitters — corticostriatal glutamate, striatal ACh, striatopallidal GABA, nigrostriatal dopamine
  • Circle of Willis — anterior/posterior communicating, ACA, ICA, PCA; ICA 4 parts (cervical, petrous, cavernous, cerebral)

Diagnostic Criteria

7 entries
1

McDonald Criteria for MS (2010 / 2017 / 2024)

Core pillars — Dissemination in Space (DIS) + Dissemination in Time (DIT) + no better explanation.

2010 DIS regions (4)

  • Periventricular
  • Juxtacortical
  • Infratentorial
  • Spinal cord

Gadolinium enhancement not required for DIS.

2017 updates

  • Cortical lesions added alongside juxtacortical
  • Symptomatic + asymptomatic lesions both count
  • CSF OCBs can substitute for DIT in CIS

2017 diagnostic combinations

Clinical presentationAdditional data required
≥2 attacks + ≥2 lesionsNone; clinical evidence suffices
≥2 attacks + 1 lesionDIS by MRI or another attack
1 attack + ≥2 lesionsDIT (second attack, new MRI lesion, or CSF OCBs)
1 attack + 1 lesion (CIS)DIS AND DIT
Insidious progression (PPMS)1 y progression + 2 of: +brain MRI, +spinal MRI, +CSF

2024 additions

  • Optic nerve as 5th topographic site for DIS
  • CSF kappa free light chain (kFLC) — alternative to OCBs
  • Central vein sign (CVS)
  • Paramagnetic rim lesion (PRL)
  • RIS can be diagnosed as MS without clinical symptoms (if DIS + DIT/CSF/6+ CVS)
  • PPMS 2024 — ≥12 months progression, 2 spinal cord lesions = DIS
2

Migraine (IHS / ICHD)

  • Duration 4–72 h
  • ≥2 of 4 — unilateral, throbbing, moderate/severe, aggravated by movement
  • ≥1 of 2 — nausea/vomiting OR photo+phonophobia
  • Chronic if ≥15 days/month
3

Tension-Type Headache (IHS)

  • Duration 30 min – 7 days
  • ≥2 of 4 — bilateral, non-throbbing, mild/moderate, not aggravated by movement
  • No nausea/vomiting
  • One or neither of photophobia/phonophobia
4

Medication Overuse Headache

CriterionThreshold
Headache frequency≥15 days/month
Analgesic (triptans/opioids/combos)≥10 days/month
Simple analgesics≥15 days/month
Duration of overuse≥3 months
Withdrawal outcomeResolves within 2 months
5

Tourette Syndrome

  • ≥2 motor tics + ≥1 vocal tic
  • Duration >1 y
  • Onset before 18 y
  • Typical onset 5–10 y
6

Huntington's Disease Genetics

ParameterValue
InheritanceAutosomal dominant
GeneHuntingtin (HTT)
MutationCAG trinucleotide repeat expansion
Normal9–36 repeats
Disease threshold>40 repeats
PhenomenonAnticipation
7

GBS Diagnostic (functional)

  • AIDP — acute inflammatory demyelinating polyradiculoneuropathy
  • Symmetric ascending weakness + areflexia
  • CSF — albuminocytologic dissociation
  • Nadir by 4 weeks in 90%

Risk Scores

2 entries
8

NIHSS

Score rangeInterpretation
0No stroke
1–4Minor stroke
5–15Moderate stroke
16–20Moderate to severe stroke
21–42Severe stroke
  • Maximum 42 points
9

ABCD2 Score (TIA)

ComponentPoints
Age > 60 y1
BP ≥ 140/90 mmHg1
Unilateral weakness2
Speech disturbance without weakness1
Duration 10–59 min1
Duration ≥60 min2
Diabetes mellitus1
ScoreRisk2-day stroke risk
0–3Low1.0%
4–5Moderate4.1%
6–7High8.1%

Anatomical / Severity Classifications

14 entries
10

MS Disease Courses (5 phenotypes)

  • Radiologically isolated syndrome (RIS)
  • Clinically isolated syndrome (CIS)
  • Relapsing-remitting MS (RRMS)
  • Secondary progressive MS (SPMS)
  • Primary progressive MS (PPMS)

Modifiers

  • Relapsing — active / inactive; worsening / not worsening
  • Progressive — active / not active; with / without progression
  • RAW — Relapse-Associated Worsening
  • PIRA — Progression Independent of Relapse Activity
11

Intracranial Haemorrhage Classification

  • Extradural / epidural — between skull inner table and outer dura
  • Subdural — between dura and arachnoid
  • Subarachnoid — between arachnoid and pia
  • Intracerebral — within brain parenchyma
12

DAI Grades

GradeDistribution
Grade IWidespread axonal damage in corpus callosum, white matter, brainstem
Grade IIGrade I + focal haemorrhagic abnormalities in corpus callosum
Grade IIIGrade II + rostral brainstem damage
  • Histology — axonal spheroids ("retraction balls")
13

Cerebral Oedema Classification

TypeMechanismSettingRx
VasogenicBBB breakdownTumours, abscess, contusionDexamethasone
CytotoxicCellular swelling from Na/K pump failureIschaemia, hypoxiaMannitol
14

SOL Herniation Grades

GradeDescription
I<2 cm from margin of lesion
II>2 cm, less than ½ cerebral hemisphere
III>2 cm, more than ½ hemisphere, no midline shift
IV>2 cm, more than ½ hemisphere with midline shift (subfalcine herniation)
15

Hyperkinetic Movement Disorders

  • Chorea
  • Dystonia
  • Myoclonus
  • Tremor
  • Tic

Less common — Ballism, Athetosis, Stereotypy

16

Dystonia Distribution Classification

  • Focal — single body region (blepharospasm, torticollis)
  • Segmental — two or more contiguous regions
  • Hemidystonia — one whole side
  • Multifocal — two or more non-contiguous
  • Generalised — trunk + ≥2 other body parts
17

Dystonia Aetiology Classification

  • Primary — isolated, no other neurologic deficit
  • Dystonia-plus syndrome — with parkinsonism or myoclonus
  • Secondary — external factor, cerebral lesion, drug (tardive)
18

CMT (HMSN) Classification

Main groups

  • HMSN (includes CMT)
  • HMN (motor only)
  • HSN/HSAN (sensory/autonomic)

Age-of-onset categories

  • Early infantile (<2 y)
  • Childhood (2–10 y)
  • Juvenile (10–20 y)
  • Adult (20–50 y)
  • Late adult (>50 y)

Electrophysiological

  • Demyelinating vs axonal

Genetics

  • PMP22 copy number variation (most common), GJB1, MPZ, MFN2
19

Muscular Dystrophies (Full List)

  • Congenital
  • Duchenne
  • Becker
  • Limb girdle
  • Myotonic
  • FSHD
  • Emery-Dreifuss
  • Occulopharyngeal
  • Distal
20

Myopathy Classification Umbrella

  • Hereditary — congenital, muscular dystrophy, distal
  • Idiopathic / Acquired — inflammatory, immune-mediated, infection (HIV), endocrine/metabolic, drugs/toxins, malignancy
21

Aphasia Types

  • Broca — expressive
  • Wernicke — receptive
22

Dysarthria Types

  • Cerebellar
  • Bulbar (LMN flaccid)
  • Pseudobulbar (UMN spastic)
  • Extrapyramidal
23

Watershed Areas

  • ACA-MCA watershed — high parasagittal cortex
  • MCA-PCA watershed — posterior parietal/occipital
  • Setting — prolonged hypotension

Physiological Thresholds & Frameworks

6 entries
24

Intracranial Pressure Thresholds

CategoryValue
Normal ICP7–15 mmHg
Borderline20–25 mmHg
Raised ICP>25 mmHg
LP opening pressure — IIH>25 cm H₂O
CPP target>70 mmHg
25

Cushing Triad

  • Elevated blood pressure
  • Slowed heart rate (bradycardia)
  • Irregular respiration
  • (± Pupil dilation)
26

Rule of 4 (Brainstem)

4 midline structures + signs

  • Motor pathway → contralateral hemiparesis
  • Medial lemniscus → contralateral proprioception/vibration loss
  • MLF → ipsilateral INO
  • Motor nucleus + nerve → ipsilateral CN function loss

4 lateral "S" structures + signs

  • Spinocerebellar → ipsilateral ataxia
  • Spinothalamic → contralateral pain/temp loss
  • Sensory nucleus of CN V → ipsilateral facial pain/temp loss
  • Sympathetic pathway → ipsilateral Horner's

Cranial nerves

  • 4 midline CNs — III, IV, VI, XII
  • 4 lateral CNs — V, VII, IX, XI
27

UMN vs LMN Signs

FeatureUMNLMN
ToneIncreased (spastic)Decreased (flaccid)
ReflexesBrisk, clonusAbsent
PlantarUpgoing (Babinski)Downgoing
FasciculationsAbsentPresent
AtrophyLate/disuseEarly/marked
28

VITAMIN CD (Pathology Mnemonic)

  • V — Vascular
  • I — Infection / Inflammatory
  • T — Traumatic
  • A — Autoimmune
  • M — Metabolic
  • I — Idiopathic / Iatrogenic
  • N — Neoplastic
  • C — Congenital
  • D — Degenerative / Drug-induced
29

CSF — Meningitis Differentiation

TypeOpening pressureCells (predominant)CSF/plasma glucoseProtein
NormalNormalFew lymphocytesNormalNormal
ViralNormal / mildly ↑LymphocytesNormal↑
Bacterial↑↑Neutrophils↓↑↑
Fungal↑Lymphocytes↓↑

Red Flag / Screening Frameworks

2 entries
30

SNOOP Red Flags (Secondary Headache)

  • Systemic — malignancy, HIV, immunosuppression, fever/chills/night sweats/weight loss/jaw claudication
  • Neurologic — focal/global symptoms, abnormal exam
  • Onset (Sudden) — thunderclap (<1 min to peak)
  • Onset (Age) — new-onset <5 y or >65 y
  • Pattern change — progressive or change in characteristics
  • Precipitated by Valsalva
  • Postural aggravation
  • Papilledema
  • Pregnancy — new-onset or change
  • Phenotype of rare headache
31

Syncope DDx

  • Structural heart — aortic stenosis, cardiomyopathy, RV dysplasia
  • Cardiac arrhythmia — VT, Brugada, long QT, AV block
  • Reflex — neurocardiogenic/vasovagal, carotid hypersensitivity
  • Situational — cough, micturition
  • Postural — orthostatic + POTS
  • Neuro-DDx — obstructive sleep apnoea

Treatment Windows & Thresholds

8 entries
32

Alteplase (rt-PA) Windows

  • NINDS 1996 — 3-hour window
  • ECASS 3 (2008) — 4.5-hour window
33

Mechanical Thrombectomy

  • Up to 6 hours (extended windows possible)
  • Target vessels — Carotid, M1/M2, A1/A2
34

IIH Treatment Ladder

  • Weight loss — first-line
  • Acetazolamide / topiramate (CAI) / furosemide
  • Repeated LP — 15–25 mL CSF per session
  • CSF shunting — if vision threatened
35

Meningitis Empiric Therapy

  • IV cefotaxime or ceftriaxone 2 g qds — immediate
  • Add IV ampicillin 2 g qds — if >55 y (Listeria)
  • Dexamethasone 10 mg qds ×4 days
  • Contact prophylaxis — single-dose ciprofloxacin OR rifampicin 600 mg bd ×2 days
  • Vaccines — MenC, ACYW135, S. pneumoniae, Hib
36

GCA Treatment

  • Long-term oral steroids 1 mg/kg
  • Monitor ESR
37

TBI Initial Management (12 steps)

  • GCS → exposure/wound exam → elevate head → ABC → GCS repeat → neuro exam → anticonvulsants (IV phenytoin, carbamazepine) → osmotic diuretics with decreased GCS → cervical spine imaging → CT brain → polytrauma survey → labs
38

Post-op TBI — Brainstem Death

  • Flat EEG + loss of corneal reflex = brainstem death
  • If not brain-stem dead → craniectomy
39

Skull Fracture Duroplasty Grafts

  • Autograft — fascia lata
  • Xenograft — bovine pericardium
  • Allograft — artificial

Rehabilitation Frameworks

3 entries
40

Post-stroke Complications to Prevent

  • Painful shoulders
  • Pressure sores
  • Contractures
  • Incontinence
  • Malnutrition
  • Aspiration pneumonia
41

Rehab DON'Ts

  • Don't pull on hemiparetic arm
  • Don't squeeze fingers
  • Don't leave in one position
  • Don't catheterise if possible
42

Brain Plasticity

  • Dendritic growth + axonal arborisation post-stroke
  • Rehab starts day 1 through MDT
  • "Never too late"
43

Antiepileptic Drugs (AEDs)

Strategy: monotherapy → if failed/not tolerated switch → then combination/adjunctive (NICE). Many have a narrow therapeutic index + typical CNS SE (sedation, dizziness, ataxia, diplopia, blurred vision).

By seizure type

SeizureKey drugs
FocalCarbamazepine, oxcarbazepine, lacosamide, phenytoin, gabapentin/pregabalin (adjunct), tiagabine, retigabine
Focal + generalized (broad)Lamotrigine, levetiracetam, valproate, topiramate, zonisamide, perampanel
AbsenceEthosuximide (only absence), valproate, lamotrigine
Myoclonic / atonicValproate (1st), levetiracetam, lamotrigine, topiramate; clobazam/rufinamide (Lennox-Gastaut)
Status epilepticusBenzodiazepines 1st line (lorazepam — prolonged; diazepam; midazolam — pre-hospital) → phenytoin → phenobarbital (refractory)

Key drugs — MOA & hallmarks

  • Carbamazepine — Na⁺-channel blocker; hepatic enzyme inducer (CYP3A4) + auto-induction (levels fall after weeks) → DDI (↓warfarin, OCP, phenytoin); SE rash + hyponatraemia, SJS (HLA-B*1502, Asian); worsens absence/myoclonic (narrow spectrum)
  • Phenytoin — Na⁺ block; zero-order (saturable) kinetics → small dose ↑ = big level ↑; 90% protein-bound (displacement toxicity); enzyme inducer; SE ataxia, nystagmus, gingival hyperplasia, hirsutism, megaloblastic anaemia, purple-glove; worsens absence
  • Valproate — Na⁺/GABA-transaminase/T-Ca²⁺; broadest spectrum; enzyme inhibitor; potent teratogen; idiosyncratic hepatotoxicity; fatal hyperammonaemic encephalopathy in urea-cycle defects
  • Lamotrigine — Na⁺ block; broad, preferred in childbearing women; SJS → slow titration (valproate ↑ its level → ↑rash risk)
  • Levetiracetam — binds SV2A; broad, few DDI, low protein binding; SE behavioural/mood changes
  • Ethosuximide — blocks thalamic T-type Ca²⁺; absence only; can precipitate tonic-clonic
  • Topiramate — multi-MOA; SE cognitive slowing, glaucoma, metabolic acidosis, kidney stones, ↓OCP efficacy
  • Gabapentin/pregabalin — α₂δ Ca²⁺-subunit; renal excretion, no DDI; adjunct (also neuropathic pain)
  • Benzodiazepines / phenobarbital — GABA-A positive allosteric modulators (phenobarbital: refractory status; dependence)

Pregnancy

  • No AED fully safe; avoid valproate, phenobarbital, topiramate in women of childbearing potential (valproate = dose-dependent malformation/cognitive risk); lamotrigine/levetiracetam preferred

Created by TheStudyFix. Deck + PDF-derived — audited against ICC-3 Neurology-20251220 folder + Stroke Trauma[VM 097] pathology PDF. Not a textbook — a triage sheet.