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Neurology Flashcards

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1
Q

What are some of the clinical signs of Myotonic Dystrophy?

A
  • Myopathic facies: long, thin and expressionless
  • Wasting of facial muscles and sternocleidomastoid
  • Bilateral ptosis
  • Frontal balding
  • Dysarthria: due to myotonic of tongue and pharynx
  • Myotonia
  • Wasting and weakness of the distal muscles with areflexia
  • Percussion myotonia
  • Cataracts
  • Cardiomyopathy, brady- and tachy-arrhythmias (look for PPM scar)
  • Diabetes (ask to dip urine)
  • Testicular atrophy
  • Dysphagia (ask about swallow)
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2
Q

What causes Myotonic Dystrophy?

A

It is an autosomal dominant genetic condition. Can be classified as type 1 or type 2. DM1 is due to expansion of CTG trinucleotide repeat sequence in the DMPK gene on chromosome 19. DM2 is due to expansion of a CCTG tetranucleotide repeat sequence within ZNF9 gene on chromosome 3. It shows genetic anticiptation

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3
Q

How would you diagnose Myotonic dysytrophy?

A
  • Genetic testing
  • EMG: ‘dive bomber’ potentials
  • Clinical Features
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4
Q

How would you manage someone with Myotonic Dystrophy?

A
  • Phenytoin may help myotonia
  • Advise against general anaesthetic
  • MDT management
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5
Q

Name some common causes of bilateral ptosis

A
  • Myotonic Dystrophy
  • Myasthenia Gravis
  • Congenital
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6
Q

Name some common causes of unilateral ptosis

A
  • Third nerve palsy
  • Horner’s Syndrome
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7
Q

Name some clinical signs of cerebellar syndrome

A
  • Scanning dysarthria
  • Rebound phenomenon when arms outstretched
  • Finger-nose incoordination
  • Intention tremor
  • Dysdiadochokinesis
  • Hypotonia
  • Hyporeflexia
  • Nystagmus
  • Heel-shin incoordination
  • Wide-based gait
  • Foot tapping incoordination
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8
Q

What suggests a lesion in the cerebellar vermis?

A

An ataxic trunk and gait but normal limb examination on bed.

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9
Q

Name the causes of cerebellar syndrome

A
  • Paraneoplastic cerebellar syndrome
  • Alcoholic cerebellar degeneration
  • Sclerosis (MS)
  • Tumour (posterior fossa SOL)
  • Rare (Friedreich’s Ataxia or Ataxia Telangiectasia)
  • Iatrogenic (Phenytoin)
  • Endocrine (Hypothyroidism)
  • Stroke (Brain stem vascular event)
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10
Q

Name some clinical signs of MS

A
  • Ataxia
  • INO
  • Optic Atrophy
  • Reduced visual acuity
  • UMN spasticity
  • Weakness
  • Brisk Reflexes
  • Altered Sensation
  • Cerebellar Signs: DANISH
  • Depression
  • Urinary retention/incontinence
  • Impotence, bowel problems
  • Uthoff’s Phenomenon - worse in hot bath/exercise
  • Lhermitte’s sign: lightening pains down spine on neck flexion due to cervical cord plaques
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11
Q

What is the cause of MS?

A

Unknown but both genetic (HLADR2, interleukin 2 and interleukin 7 receptors) and environmental factors (increasing incidence with increasing latitude, association with EBV) appear to play a role.

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12
Q

How would you diagnose MS?

A
  • Need to have evidence of demyelination that is disseminated in both time and space.
  • CSF: presence of oligoclonal IgG bands
  • MRI: periventricular white matter plaques
  • Visual Evoked Potentials (VEPs): delayed velocity but normal amplitude (evidence of previous optic neuritis)
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13
Q

How would you manage a patient with MS?

A
  • MDT Approach
  • INF-beta, glatiramer acetate reduce relapse rate but not progression
  • Monoclonal antibodies: Alemtuzumab (anti-CD52), Natalizumab (anti alpha-4 integrin)
  • Symptomatic treatments: Methylpred during acute phase, anti-spasmodics (e.g. Baclofen), Carbamazepine (for neuropathic pain), Laxatives and intermittent catheterisation/oxybutynin for bowel and bladder disturbance
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14
Q

Name some clinical signs seen in Stroke

A
  • Walking aids, NG/PEG, Flexed upper limbs and extended lower limbs posture, wasted or oedematous on affected side
  • Spastic rigidity, ‘clasp-knife’, ankle clonus
  • Reduced power
  • Sometimes reduced coordination usually as a result of weakness but may reflect cerebellar involvement if posterior stroke
  • Brisk Reflexes
  • Extensor plantars
  • UMN facial nerve weakness
  • Impaired swallow/gag reflex
  • Impaired visual fields and higher cortical functions
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15
Q

What other features should be looked at to investigate cause of Stroke?

A
  • Irregular Pulse (AF)
  • Blood Pressure
  • Cardiac Murmurs
  • Carotid bruit (anterior circulation stroke)
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16
Q

What Investigations would you request in a patient presenting with a Stroke?

A
  • Bloods: FBC, CRP/ESR, glucose, renal function
  • ECG: AF or previous infarction
  • CXR: cardiomegaly or aspiration
  • CT Head: infarct or bleed, which territory
  • Consider ECHO, Carotid Doppler, MRI/A/V (dissection or venous sinus thrombosis in young patient), clotting screen (thrombophilia), vasculitis screen in young CVA
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17
Q

How you manage patients with Stroke acutely?

A
  • Thrombolysis with tPA (if within 4.5 hours of acute ischaemic stroke)
  • Clopidogrel (or aspirin and dipyridamole)
  • Referral to specialist stroke unit
  • MDT approach
  • DVT Prophylaxis
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18
Q

What is involved in the chronic management of patients with Stroke?

A
  • Carotid endarterectomy in patients who have made a good recovery (if >70% stenosis of ipsilateral internal carotid artery)
  • Anticoagulation for cardiac thromboembolism
  • Addressing cardiovascular risk factors
  • Nursing +/- social care
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19
Q

What is the Bamford classification of Stroke?

A
  • TACS: Hemiplegia (contralateral to lesion), Homonymous Hemianopia (contralateral to lesion) and Higher Cortical Dysfunction (e.g. dysphasia, dyspraxia and neglect)
  • PACS: 2 of the above 3
  • Lacunar: pure hemi-motor or sensory loss
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20
Q

What findings would you expect in a dominant parietal-lobe cortical infarct?

A
  • Dysphasia: receptive, expressive or global
  • Gerstmann’s syndrome: Dysgraphia, dyslexia and dyscalculia, L-R disorientation and finger agnosia
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21
Q

What findings would you expect in a non-dominant parietal-lobe cortical infarct?

A
  • Dressing and constructional apraxia
  • Spatial neglect
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22
Q

What findings would you expect in a dominant or non-dominant parietal-lobe cortical infarct?

A
  • Sensory and visual inattention
  • Astereognosis
  • Graphaesthesia
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23
Q

What is Lateral Medullary (Wallenberg) Syndrome?

A
  • Most common brainstem vascular syndrome
  • Due to occlusion of PICA
  • Often variable in its presentation
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24
Q

What are the features of Lateral Medullary (Wallenberg) Syndrome?

A
  • Ipsilateral to the lesion: Cerebellar signs (inferior cerebellar peduncle), nystagmus (vestibular nucleus), Horner Syndrome (Descending sympathetic tracts), Palatal paralysis and decreased gag reflex (nucleus ambiguous - CN IX and X), Loss of trigeminal pain and temp sensation (CN V spinal nucleus and tract)
  • Contralateral involvement: loss of pain and temp sensation (spinothalamic tract)
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25
What are some clinical signs of spastic legs?
- Wheelchair and walking sticks (disuse atrophy and contractures may be present if chronic) -Increased tone - Ankle clonus - Generalised weakness - Hyper-reflexia - Extensor plantars - Gait: "scissoring" - Could be a sensory level suggestive of a spinal lesion - Check for back scars/deformity - Search for features of MS e.g. cerebellar signs, fundoscopy for optic atrophy - Ask about bladder symptoms and not the presence or absences of a urinary catheter. - Offer to test anal tone
26
What are the causes of spastic legs?
- MS - Spinal cord compression/cervical myelopathy - Trauma - MND (no sensory signs) - Anterior spinal artery thrombosis: dissociated sensory loss with preservation of dorsal columns - Syringomelia with typical upper limb signs - Hereditary spastic paraplegia: stiffness exceeds weakness, positive family history - Subacute combined degeneration of teh cord: absent reflexes and up-going plantars - Friedreich's Ataxia - Parasagittal falx meningioma
27
Name some causes of spinal cord compression
- Disc Prolapse (above L1/L2) - Malignancy - Infection: Abscess or TB - Trauma - fractured vertebrae
28
Name the lumbo-sacral root levels
- L2/3 - Hip Flexion - L3/4 - Knee Extension - L4/5 - Foot Dorsiflexion - L5/S1 - Knee flexion and Hip Extension - S1/S2 - Foot plantar flexion
29
What are the clinical signs of syringomelia?
- Weakness and wasting of the small muscles of the hand - Loss of reflexes in the upper limbs - Dissociated sensory loss in the upper limbs and chest: loss of pain and temp sensation (spinothalamic) with preservation of joint position and vibration sense (dorsal columns) - Scars from painless burns - Charcot joints: elbow and shoulder - Pyramidal weakness in lower limbs - Up-going plantars - Kyphoscoliosis is common - Horner's syndrome - If syrinx extends into brain stem (syringobulbia) there may be cerebellar and lower cranial nerve signs
30
What does Syringomelia affect?
- Decussating spinothalamic neurones producing segmental pain and temp loss at the level of the syrinx. - Anterior horn cells producing segmental lower motor neurone weakness at the level of the syrinx. - Corticospinal tract producing UMN weakness below the level of the syrinx.
31
What is a Charcot joint?
- Painless deformity and destruction of a joint with new bone formation following repeated minor trauma secondary to loss of pain sensation
32
What are the most important causes of Charcot joint?
- Diabetes: foot and ankle - Tabes Dorsalis: Hip and Knee - Syringomelia: elbow and shoulder
33
Name the cervical roots
C5/6 - Elbow flexion and supination C7/8 - Elbow extension T1 - Finger adduction
34
What are the clinical signs of Motor Neurone Disease?
- Wasting and fasciculation - Spastic tone but can be flaccid - Weakness - Absent and/or brisk reflexes (absent knee jerk with extensor plantars) - Sensory examination is normal - Dysarthria - may be bular (nasal due to palatal weakness) or pseudo-bulbar ('hot potato speech' due to a spastic tongue) - Wasting and fasciculations of tongue or a stiff spastic tongue with brisk jaw jerk - No sensory, extra-ocular muscle, cerebellar or extra-pyramidal involvement - Sphincter and cognitive disturbance occasionally seen
35
What are the different types of MND?
- Amyotrophic Lateral Sclerosis (50%) - affects corticospinal tracts predominantly causing spastic paraparesis or tetraparesis. - Progressive muscular atrophy (25%) - affecting anterior horn cells predominantly producing wasting, fasciculations and weakness (best prognosis) - Progressive bulbar palsy (25%) - affecting lower cranial nerves and suprabulbar muscles producing speech and swallow problems (Worst prognosis)
36
What investigations should be done if MND is suspected?
- Clinical diagnosis - EMG: fasciculations - MRI (Brain and Spine): excludes main differentials of cervical cord compression and myelopathy and brain stem lesions
37
How is MND managed?
- Supportive e.g. PEG feeding and NIV - MDT approach - Riluzole (glutamate antagonist): slows disease progression by an average of 3 months but does not improve function or quality of life and is costly
38
Name some causes of generalised wasting of the hand muscles
Anterior Horn Cell: - MND - Syringomelia - Cervical cord compression - Polio Brachial Plexus: - Cervical rib - Pancoast tumour - Trauma Peripheral Nerve: - Combined median and ulnar nerve lesions - Peripheral neuropathy Muscle - Disuse atrophy e.g. rheumatoid arthritis
39
Name some causes of fasciculations
- MND - Syringomelia
40
What are the clinical signs of Parkinson's Disease?
- Expressionless face with absence of spontaneous movements - Coarse, pill-rolling, 3-5Hz tremor. Characteristically asymmetrical - Bradykinesia - Cogwheel rigidity - Shuffling gait - Speech is slow, faint and monotonous - Postural hypotension if MSA - Abnormal vertical eye movements if PSP - Dementia - if Lewy Body dementia - Medication history
41
Name some causes of Parkinsonism
- Idiopathic Parkinson's Disease - Parkinson's Plus Syndromes: MSA (Shy Drager), PSP (Steele-Richardson-Olszewski), Corticobasal degeneration (unilateral Parkinson's signs) - Drug-induced - particularly phenothiazines - Anoxic brain damage - Post-encephalitis - MPTP toxicity - Wilson's Disease - Dementia puglistica
42
What causes Parkinson's Disease?
Degeneration of the dopaminergic neurones between the substantia nigra and the basal ganglia
43
What treatments are used in Parkinson's Disease?
- L-Dopa with a peripheral dopa-decarboxylase inhibitor - Dopamine agonists e.g. Pergolide, Bromocriptine, Ropinirole, Cabergoline, Apomorphine - MAO-B Inhibitors e.g. Selegiline - Anti-Cholinergics - e.g. procyclidine, benzotropine, trihexylphenidyl - COMT inhibitors - e.g. Entacapone - Amantadine - DBS
44
Name some causes of Tremor
Resting Tremor: - Parkinson's Disease Postural Tremor: - Benign Essential Tremor - Anxiety - Alcohol - Metabolic: CO2 and hepatic encephalopathy - Thyroxtoxicosis Intention Tremor: - Cerebellar disease
45
Name some clinical signs of Hereditary Sensory Motor Neuropathy
- Wasting of the distal lower limb muscles with preservation of thigh muscle bulk (inverted champagne bottle) - Pes cavus (seen also in Friedreich's ataxia) - Weakness of the ankle dorsi-flexion and toe extension - Variable degree of stocking distribution sensory loss (usually mild) - Gait is high stepping (due to foot drop) and stamping (absent proprioception) - Wasting of hand muscles - Palpable lateral popliteal nerve.
46
What are the commonest types of HSMN?
Type I (demyelinating) - Charcot Marie Tooth/Peroneal muscular atrophy Type II (axonal) Both have autosomal dominant inheritance
47
Name some causes of sensory neuropathy
- Diabetes - Alcohol - Drugs e.g. Isoniazid and Vincristine - Vitamin Deficiencies e.g. B12, B6 and B1, Folate - Hypothyroidism
48
Name some causes of motor neuropathy
- GBS and Botulism if acute - Lead toxicity - Porphyria - HSMN
49
Name some causes of Mononeuritis Multiplex
- Diabetes - Connective tissue disease e.g. SLE and RA - Vasculitis e.g. polyarteritis nodosa and Churg-Strauss - Infection e.g. HIV - Malignancy
50
Name some clinical signs of Friedreich's ataxia
- Young adult, wheelchair (or ataxic gait) - Pes cavus - Bilateral cerebellar ataxia (ataxic hand shake and other arm signs, dysarthria, nystagmus) - Leg wasting with absent reflexes and bilateral upgoing plantars - Posterior column signs (loss of vibration and joint position sense) - Kyphoscoliosis - Optic atrophy (30%) - High-arched palate - Sensorineural deafness (10%) - Listen for murmur of HOCM - Ask to dip urine (10% develop diabetes)
51
Name some causes of extensor plantars with absent knee jerks
- Friedreich's Ataxia - Subacute combined degeneration of the cord - MND - Taboparesis - Conus medullaris lesions - Combined upper and lower pathology e.g. cervical spondylosis and peripheral neuropathy
52
What are the causes of Facial Nerve Palsy?
Pons (+VI palsy and long tract signs): - MS and Stroke Cerebello-pontine angle (+ V, VI, VII and cerebellar signs): - Tumour e.g. acoustic neuroma Auditory/Facial Canal (+VIII): - Cholesteatoma and abscess Neck and Face (+ scars or parotid mass): - Tumour and trauma Other causes: - HZV (Ramsay-Hunt Syndrome) - Mononeuropathy due to diabetes, sarcoidosis or Lyme's Disease - Tumour/Trauma - MS/Stroke
53
Name some causes of bilateral facial palsy
- GBS - Sarcoidosis - Lyme Disease - Myasthenia Gravis - Bilateral Bell's Palsy
54
Name some clinical signs of Myasthenia Gravis
- Bilateral ptosis - Complicated bilateral extra-ocular muscle palsies - Myasthenic snarl - Nasal speech, palatal weakness and poor swallow (bulbar involvement) - Proximal muscle weakness in the upper limbs and fatiguability - Normal reflexes - Sternotomy scars (thymectomy) - State you would assess Resp muscle function (FVC)
55
What diagnostic tests should be done if suspecting Myasthenia Gravis?
- Anti-AChR antibodies (+ve in 90%) - Anti-MuSK (muscle specific kinase) antibodies often +ve if Anti-AChR negative - EMG: decremented response to a titanic train of impulses - Edrophonium (Tensilon) test: an acetylcholine esterase inhibitor increases the concentration of ACh at teh motor end plate and hence improves the muscle weakness. Can cause heart block and even asystole. - CT or MRI of the mediastinum - thymoma in 10% - TFTs (Grave's present in 5%)
56
What are the treatment options for Myasthenia Gravis?
Acute: - IVIG or PLEX (if severe) Chronic: - Acetylcholine esterase inhibitor e.g. pyridostigmine - Immunosuppression: steroids and azathioprine - Thymectomy is beneficial even if the patient does not have a thymoma (usually young females)
57
What are the causes of Bilateral extra-ocular palsies?
- Myasthenia gravis - Graves' disease - Mitochondrial cytopathies e.g. Kearns Sayre syndrome - Miller-Fisher variant of GBS - Cavernous sinus pathology
58
What are the causes of bilateral ptosis?
- Congenital - Senile - Myasthenia Gravis - Myotonic dystrophy - Mitochondrial cytopathies e.g. Kearns Sayre syndrome - Bilateral Horner's Syndrome
59
What are the clinical signs of Tuberous Sclerosis?
- Facial adenoma sebaceum - Periungal fibromas - Shagreen patch: roughened, leathery skin over the lumbar region - Ash leaf macules: depigmented macules on trunk (fluoresce with UV/Wood's light) - Cystic lung disease - Renal enlargement caused by Polycystic kidneys and/or renal angiomyolipomas - Transplanted kidney - Dialysis fistulae - Retinal phakomas (dense white patches) in 50% - Mental retardation may occur - Seizures - Signs of anti-epileptic treatment e.g. phenytoin: gum hypertrophy and hirsutism
60
What is tuberous sclerosis?
An autosomal dominant (TSC1 on chromosome 9, TSC2 on chromosome 16) with variable penetrance. The genes for tuberous sclerosis and ADPKD are contiguous on chromosome 16, hence some mutations lead to both conditions. Renal failure may result from cystic disease, or parenchymal destruction by massive angiomyolipomas.
61
What investigations would you do if you were suspecting Tuberous Sclerosis?
- Skull films: 'railroad track' calcification - CT/MRI Head: tuberous masses in cerebral cortex (often calcify) - Echo and AUSS: hamartomas and renal cysts
62
Name some clinical signs of Neurofibromatosis
- Cutaneous neurofibromas: two or more - Cafe au lait patches: six or more, >15mm diameter in adults - Axillary freckling - Lisch nodules: melanocytic hamartomas of the iris - BP: HTN (associated with renal artery stenosis and phaeochromocytoma) - Examine the chest: fine crackles (honeycomb lung fibrosis) - Neuropathy with enlarged palpable nerves - Visual acuity: optic glioma/compression
63
What are the different types of Neurofibromatosis?
- Type I (chromosome 17) is the clinical peripheral form - Type II (chromosome 22) is central and presents with bilateral acoustic neuromas and sensi-neural deafness rather than skin lesions - Inheritance is autosomal dominant
64
What conditions are associated with Neurofibromatosis?
- Phaeochromocytomas (2%) - Renal artery stenosis (2%)
65
What are the complications of Neurofibromatosis?
- Epilepsy - Sarcomatous change (5%) - Scoliosis (5%) - Intellectual impairment (10%)
66
What are the causes of enlarged nerves and peripheral neuropathy?
- Neurofibromatosis - Leprosy - Amyloidosis - Acromegaly - Refsum's Disease
67
What are the clinical signs of Horner's Syndrome?
- Ptosis (levator palpebrae is partially supplied by sympathetic fibres) - Enophthalmos (sunken eye) - Anhydrosis (sympathetic fibres control sweating) - Small pupils (miosis) May also ave flushed/warm skin ipsilaterally to the Horner's pupil due to loss of vasomotor sympathetic tone to the face. Should also look at the ipsilateral side of the neck for scars (trauma, e.g. central lines, carotid endarterectomy surgery or aneurysms) and tumours (Pancoast)
68
What would you find with a Holmes-Adie pupil?
Moderately dilated pupil that has a poor response to light and a sluggish response to accommodation. Could also look for diminished ankle or knee jerks. A benign condition more common in females. Reassure patients that nothing is wrong.
69
What is an Argyll Robertson pupil?
A small irregular pupil that accommodates but doesn't react to light. There is also an atrophied and depigmented iris. Should also offer to look for sensory ataxia (tabes dorsalis). Usually a manifestation of quaternary syphilis, but it may also be caused by diabetes. Test for quaternary syphilis using TPHA or FTA, which remain positive for the duration of the illness. Treat with penicillin
70
What happens in a 3rd nerve palsy?
Ptosis (usually complete), dilated pupil and eye points down and out due to unopposed action of the lateral rectus (VI) and superior oblique (IV). Extra - test for trochlear nerve - on looking nasally the eye will intort (rotate towards the nose) indicating that the trochlear nerve is working.
71
Name some of the causes of a third nerve palsy.
Medical causes (pupil is normal): - Mononeuritis multiplex e.g. DM - Midbrain infarction: Weber's - Midbrain demyelination (MS) - Migraine Surgical Causes (pupil is dilated): - Communicating artery aneurysm (posterior) - Cavernous sinus pathology: thrombosis, tumour or fistula (IV, V and VI may also be affected) - Cerebral uncus herniation
72
What clinical findings would you see in Optic Atrophy?
- Pale optic disc - RAPD - dilatation of the pupil on moving the light from the normal eye (consensual reflex) to the abnormal eye (direct reflex)
73
How could you look for the cause of optic atrophy on examination?
Examining the Fundus: - Glaucoma (cupping of the disc) - Retinitis pigmentosa - Central retinal artery occlusion - Frontal brain tumour: Foster Kennedy Syndrome (papilloedema in one eye due to raised ICP and optic atrophy in the other due to direct compression by the tumour) Cerebellar signs: - MS (INO) - Friedreich's Ataxia (scoliosis and pes cavus) Large Bossed Skull: - Paget's Disease (hearing aid) Argyll-Robertson Pupil: - Tertiary syphilis
74
What are the causes of a pale optic disc?
- Pressure (commonest cause): tumour, glaucoma and Paget's - Ataxia: Friedreich's ataxia - LEber's optic atrophy - Dietary: Low B12, Degenerative: retinitis pigmentosa - Ischaemia: central retinal artery occlusion - Syphilis and other infections e.g. CMV and toxoplasmosis - Cyanide and other toxins e.g. alcohol, lead and tobacco - Sclerosis: MS
75
What are the clinical signs of Age-related Macular Degeneration?
Macular Changes: - Drusen (extracellular material) - Geographic atrophy - Fibrosis - Neovascularisation (wet)
76
What are the risk factors for ARMD?
- Age - White race - FHx - Smoking - Wet AMD have a higher incidence of Coronary artery disease and stroke
77
How do you treat Age-related Macular Degeneration (AMD)?
- Ophthalmology referral - Wet AMD may be treated by intravitreal injections of anti-VEGF (though can increase cerebrovascular and cardiovascular risk)
78
What is the prognosis of patients with AMD?
Most progress to blindness in the affected eye within 2 years of diagnosis.
79
What are the clinical signs of retinitis pigmentosa?
- White stick and braille book (registered blind) - Reduced peripheral field of vision (tunnel vision) - Fundoscopy
80
What findings would you expect to see on ophthalmoscopy in retinitis pigmentosa?
- Peripheral retina 'bone spicule pigmentation' which follows the veins and spares the macula - Optic atrophy due to neuronal loss - Associated with cataracts (absent red reflex)
81
What findings would help explain the diagnosis of retinitis pigmentosa?
- Ataxia - Friedreich's ataxia, abetalipoproteinaemia, Refsum's disease, Kearns Sayre syndrome - Deafness (hearing-aid/white stick with red stripes) - Refsum's disease, Kearns Sayre syndrome, Usher's disease - Ophthalmoplegia/Ptosis and permanent pacemaker - Kearns Sayre syndrome - Polydactyly - Laurence Moon Biedl syndrome - Icthyosis: Refsum's disease
82
What is Retinitis Pigmentosa?
An inherited form of retinal degeneration characterised by loss of photo receptors.
83
What are the causes of Retinitis Pigmentosa?
- Congenital: often autosomal recessive inheritance, 15% due to rhodopsin pigment mutations - Acquired: post-inflammatory retinitis
84
What is the prognosis of retinitis pigmentosa?
Progressive loss of vision due to retinal degeneration. Begins with reduced night vision. Most are registered blind at 40 years, with central visual loss in the seventh decade. There is no treatment although vitamin A may slow disease progression.
85
What are the causes of Tunnel Vision?
- Papilloedema - Glaucoma - Choroidretinitis - Migraine - Hysteria
86
What are the clinical signs associated with retinal artery occlusion?
- Pale milky fundus with thread like arterioles - +/- Cherry red macula (choroidal blood supply) - Cause: AF (irregular pulse) or carotid stenosis (bruit) - Causes optic atrophy
87
What are the causes of retinal artery occlusion?
- Embolic - carotid plaque rupture or cardiac mural thrombus. Treatment includes aspirin, anti-coagulation and endarterectomy - Giant Cell Arteritis - tender scalp and pulseless temporal arteries. Treatment is with high-dose steroid urgently, check ESR and arrange temporal artery biopsy to confirm diagnosis.
88
What are the clinical signs associated with retinal vein occlusion?
- Flame haemorrhages +++ radiating out from a swollen disc - Engorged tortuous veins - Cotton wool spots - Cause: look for diabetic or hypertensive changes (visible in branch retinal vein occlusion) - Rubeosis iridis causes secondary glaucoma (in central retinal vein occlusion), visual loss or field defect
89
What are the causes of retinal vein occlusion?
- Hypertension - Hyperglycaemia - Hyperviscosity: Waldenstrom's macroglobulinaemia or myeloma - High intraocular pressure: glaucoma
90
How do 5-HT3 receptor antagonists work?
They work on the chemoreceptor trigger zone of the medulla oblongata. Examples include ondansetron and palonosetron. Adverse effects include prolonged QTc and constipation.
91
What are the features of absence seizures?
- Absences last a few seconds and are associated with a quick recovery - Seizures may be provoked by hyperventilation or stress - The child is usually unaware of the seizure - They may occur many times a day - EEG: bilateral, symmetrical 3Hz spike and wave pattern
92
How would you manage absence seizures?
- Sodium valproate and Ethosuximide
93
What are the features of acute angle-closure glaucoma?
- Severe pain: may be ocular or headache - Decreased visual acuity - Symptoms worse with mydriasis (e.g. watching tv in a dark room) - Hard, red-eye - Haloes around lights - Semi-dilated non-reacting pupil - Corneal oedema results in a dull or hazy cornea - Systemic upset e.g. nausea and vomiting and/or abdo pain
94
What factors predispose to Acute Angle-Closure Glaucoma?
- Hypermetropia (long-sightedness) - Pupillary dilatation - Lens growth associated with age
95
How would you investigate suspected acute angle closure glaucoma?
- Tonometry to assess for elevated IOP - Gonioscopy - to visualise the angle
96
How would you manage someone with acute angle closure glaucoma?
- Direct parasympathomimetic (e.g. pilocarpine) - causes contraction of ciliary muscle and opening of the trabecular meshwork. It increases outflow of aqueous humour - Beta Blocker (e.g. timolol) - decreases aqueous humour production - Alpha-2 agonist (e.g. apraclonidine) - decreases aqueous humour production and increases uveoscleral outflow - IV acetazolamide - reduces aqueous secretions - Some guidelines also recommend topical steroids to reduce inflammation Definitive management - Laser Peripheral Iridotomy - creates a tiny hole in the peripheral iris resulting in aqueous humour flowing to the angle
97
What is Acute Disseminated Encephalomyelitis?
An autoimmune demyelinating disease of the CNS. Also termed post-infectious encephalomyelitis. Not fully understood but can occur following infection with a bacterial or viral pathogen (e.g. measles, mumps, rubella, varicella etc). After lag of a few days - 2 months there is acute onset of multifocal neurological symptoms with rapid deterioration. Non-specific signs like headache, fever, nausea and vomiting may also accompany the onset of illness. Motor and sensory deficits are frequent and there many also be brainstem involvement including oculomotor defects. MRI shows supra and infra-tentorial demyelination
98
What are the risk factors for age-related macular degeneration?
- Advancing age (biggest risk factor) - Smoking - Family history - Anything that increases risk of ischaemic cardiovascular disease such as HTN, dyslipidaemia and diabetes
99
What types of age related macular degeneration exist?
Dry macular Degeneration / Early (90%) - characterised by drusen - yellow round spots in Bruch's membrane. Wet macular degeneration / Late (10%) - also known as exudative or neovascular macular degeneration. You get leakage of serous fluid and blood which can subsequently result in a rapid loss of vision. Carries worst prognosis.
100
What are the clinical features of age-related macular degeneration?
- Subacute onset of visual loss - Reduction in visual acuity especially for near field objects - Difficulties with vision at night - Fluctuations in visual disturbance may occur from day to day - Photopsia (flickering or flashing lights) and glare around objects - Visual hallucinations may also occur resulting in Charles-Bonnet syndrome
101
What are the clinical signs of age-related macular degeneration.
- Distortion of line perception may be noted on Amsler grid testing - Fundoscopy reveals the presence of drusen, yellow areas of pigment deposition in the macular area, which may become confluent in late disease to form a macular scar - In wet ARMD well demarcated red patches may be seen which represent intra-retinal or sub-retinal fluid leakage or haemorrhage.
102
What investigations should be considered if age-related macular degeneration is suspected?
- Slit-lamp microscopy - to identify any pigmentary, exudative or haemorrhagic changes affecting the retina. Usually accompanied by colour fundus photography - Fluoroscein angiography if wet ARMD is suspected as this can guide intervention with anti-VEGF therapy - Optical coherence tomography - to visualise retina in 3D
103
How do you treat age-related macular degeneration?
- Zinc with anti-oxidant vitamins A, C and E reduced progression of disease - anti-VEGF agents (preferred tx) - e.g. ranibizumab, bevacizumab and pegaptanib - Laser photocoagulation if evidence of new vessel formation but there is a risk of acute visual loss after treatment.
104
What are the clinical features of anterior uveitis?
- Acute onset - Ocular discomfort and pain (may increase with use) - Pupil may be small +/- irregular due to sphincter muscle contraction - Photophobia (often intense) - Blurred vision - Red eye - Lacrimation - Ciliary flush: a ring of red spreading outwards - Hypopyon - pus and inflammatory cells in the anterior chamber often resulting in a visible fluid level - Visual acuity initially normal then becomes impaired
105
What conditions are associated with anterior uveitis?
- Ank Spond - Reactive Arthritis - Ulcerative Colitis - Crohn's Disease - Behcet's Disease - Sarcoidosis: bilateral disease may be seen
106
How do you manage suspected anterior uveitis?
- Urgent ophthalmology review - Cycloplegics (dilates the pupil which helps to relieve pain and photophobia) e.g. atropine, cyclopentolate - Steroid eye drops
107
What is anti-NMDA receptor encephalitis and how does it present?
- Paraneoplastic syndrome - Prominent psychiatric features - agitation, halluncations, delusions and disordered thinking; seizures, insomnia, dyskinesias and autonomic instability - Ovarian teratomas are detected in half of female adult patients - More prevalent in Afro-Caribbean patients - MRI can be normal but abnormalities can be visualised on FLAIR sequences in the deep subcortical limbic structures - Treatment based on immunosuppression with IV steroids, IVIG, Rituximab, Cyclophosphamide or PLEX, alone or in combination - Resection of teratoma is also therapeutic
108
Name some extra-pyramidal side effects that can be seen with anti-psychotics?
- Parkinsonism - Acute dystonia - sustained muscle contraction such as torticollis, oculogyric crisis) - may be managed with procyclidine - Akathisia (severe restlessness) - Tardive dyskinesia (late onset of choreoathetoid movements, abnormal, involuntary, may occur in 40% of patients, may be irreversible, most common is chewing and pouting of jaw)
109
Describe Weknicke's aphasia
- Lesion in superior temporal gyrus supplied by inferior division of L MCA - Forms speech before sending it to Broca's area - Results in sentences that make no sense, word substitution and neologisms but speech remains fluent - 'word salad' - Comprehension is impaired
110
Describe Broca's aphasia
- Due to a lesion in the inferior frontal gyrus - typically supplied by the superior division of the L MCA - Speech is non-fluent, laboured, and halting - Repetition is impaired - Comprehension is normal
111
Describe conductive aphasia
- Classically due to a stroke affecting the arcuate fasciculus - connection between Broca and Wenicke's area - Speech is fluent but repetition is poor - Aware of errors they are making - Comprehension is normal
112
Describe Global Aphasia
- Large lesion affecting all 3 areas; Broca's, Wernicke's and arcuate fasciculus - May still be able to communicate using gestures
113
What is Ataxia Telangiectasia?
- Autosomal recessive disorder - Defect in ATM gene that encodes for DNA repair enzymes - Inherited combined immunodeficiency disorder - Presents in early childhood (age 1-5 years) with abnormal movements - Features: cerebellar ataxia, telangiectasia (spider angiomas), IgA deficiency (resulting in recurrent chest infections), 10% risk of developing malignancy, lymphoma or leukaemia, but also non-lymphoid tumours
114
What is autonomic dysreflexia?
- Occurs in patients who have had a spinal cord injury at, or above T6 spinal level - Unbalance physiological response, characterised by extreme hypertension - Flushing and sweating above level of cord lesion - Agitation - In untreated cases, severe consequences of extreme hypertension have been reported e.g. haemorrhagic stroke - Management - removal/control of stimulus and tx of any life-threatening HTN and/or bradycardia
115
What are the features of Benzodiazepine withdrawal?
- Insomnia - Irritability - Anxiety - Tremor - Loss of appetite - Tinnitus - Perspiration - Perceptual disturbances - Seizures
116
What are the features of Brachial Neuritis?
- Acute onset of unilateral (occasionally bilateral), severe pain followed by shoulder and scapular weakness several days later - Sensory changes are usually minimal - May be subsequent rapid wasting of the arm muscles in accordance to which nerve is involved - Precipitating factors: recent trauma, infection, surgery, or even vaccination - Rarely may be hereditary - Prognosis normally good except when phrenic nerve is involved as causes significant breathlessness
117
Describe some brachial plexus injuries
Erb-Duchenne Paralysis - Damage to C5/6 - Winged scapula - May be caused by breech position Klumpke's Paralysis - Damage to T1 - Loss of intrinsic hand muscles - Due to traction
118
What presenting symptoms are seen in Brain Abscess?
- Headache - often dull and persistent - Fever - may be absent and usually not a swinging fever as seen with abscesses at other sites - Focal neurology - e.g. oculomotor nerve palsy or abducens nerve palsy secondary to raised ICP - Nausea - Papilloedema - Seizures
119
How are Brain abscesses treated?
- Surgery - craniotomy and abscess cavity debrided - IV Antibiotics - 3rd generation cephalosporin and metronidazole - ICP management - e.g. dexamethasone
120
What are the different types of brain herniation?
- Subfalcine - displacement of the cingulate gyrus under the falx cerebri - Central - downwards displacement of the brain - Transtentorial/uncal herniation - displacement of temporal lobe uncus under the tentorium cerebelli. You get an ipsilateral fixed dilated pupil and contralateral paralysis - Tonsillar - displacement of cerebellar tonsils through foramen magnum. Called 'coning'. In raised ICP causes compression of cardiorespiratory centre. Can be seen in Chiari malformation without raised ICP - Transcalvarial - when brain is displaced through a defect in skull e.g. fracture or craniotomy site
121
Outline features seen in Parietal Lobe Lesions
- Sensory inattention - Apraxias (unable to do things when asked) - Astereognosis (unable to recognise things via touch) - Inferior homonymous quadrantanopia - Gerstmann's syndrome (lesion of dominant parietal): alexia, acalculia, finger agnosia and R->L disorientation
122
Outline features seen in occipital lobe lesions
- Homonymous hemianopia (with macula sparing) - Cortical blindness - Visual agnosia
123
Outline features seen in temporal lobe lesions
- Wernicke's asphasia - Superior homonymous quadrantanopia - Auditory agnosia - Prosopagnosia (difficulty recognising faces)
124
Outline features seen in frontal lobe lesions
- Broca's aphasia - Disinhibition - Perseveration (continuing something beyond a desired point) - Anosmia - Inability to generate a list
125
What area of the brain is affected in Wernicke and Korsakoff syndrome?
Medial thalamus and mammillary bodies of the hypothalamus
126
What area of the brain is affected in Hemiballism?
Subthalamic nucleus of the basal ganglia
127
What area of the brain is affected in Huntington's Chorea?
Striatum (caudate nucleus) of the basal ganglia
128
What area of the brain is affected in Parkinson's Disease?
Substantia nigra of the basal ganglia
129
What area of the brain is affected in Kluver Bucy syndrome (hypersexuality, hyperorality, hyperphagia, visual agnosia)?
Amygdala
130
Which tumours most commonly spread to the brain?
- Lung (most common) - Breast - Bowel - Skin (namely melanoma) - Kidney
131
What is found on CT head when patient has glioblastoma multiforme?
Solid tumour with central necrosis and a rim that enhances with contrast. Disruption of BBB and therefore also vasogenic oedema.
132
What is CADASIL?
Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy. Rare cause of multi-infarct dementia. Patients often present with migraine.
133
What is the mechanism of action of Carbamazepine?
- Binds to sodium channels increasing their refractory period
134
What are the adverse effects of Carbamazepine?
- P450 enzyme inducer - Dizziness - Ataxia - Drowsiness - Headache - Visual disturbance (esp diplopia) - Steven Johnstone syndrome - Leucopenia and agranulocytosis - Hyponatraemia secondary to SIADH - Exhibits auto-induction - can see return of seizures after 3-4 weeks.
135
What causes raised lymphocytes in CSF?
- Viral meningitis/encephalitis - TB meningitis - Partially treated bacterial meningitis - Lyme's Disease - Behcet's, SLE - Lymphoma, Leukaemia
136
What are the adverse effects of Clozapine?
- Agranulocytosis - Reduced seizure threshold (can induce seizures in up to 3%) - Constipation - Myocarditis - baseline ECG should be taken before starting treatment - Hypersalivation
137
How would you manage Cluster Headaches?
- Neurology referral Acute Tx: - 100% Oxygen (80% respond within 15 minutes) - Subcutaneous triptan (75% response rate within 15 mins) Prophylaxis: - Verapamil is drug of choice - Also some evidence for tapering dose of Pred
138
What features would be seen in a common peroneal nerve lesion?
- Foot drop - Weakness of foot dorsiflexion and eversion - Weakness of extensor hallucis longus - Sensory loss over the dorsum of the foot and the lower lateral part of the leg (L5) - Wasting of the anterior tibial and peroneal muscles
139
What are the features of Creutzfeldt-Jakob disease and how would you investigate someone suspected of having it?
Progressive neurological condition cause by prion proteins. These proteins induce the formation of amyloid folds resulting in tightly packed beta-pleated sheets resistant to proteases. Features: - Dementia (rapid onset) - Myoclonus Ix: - CSF: normal - EEG: biphasic, high-amplitude sharp waves (only in sporadic CJD) - MRI: hyperintense signals in the basal ganglia and thalamus
140
Describe some features of Degenerative Cervical Myelopathy
- Pain (affecting neck, upper or lower limbs) - Loss of motor function (loss of digital dexterity, preventing simple tasks such as holding a fork or doing shirt buttons) - Loss of sensory function causing numbness - Loss of autonomic function (urinary or faecal incontinence and/or impotence) - Hoffman's +ve - a reflex to check for cervical myelopathy. Gently flick one finger on a patient's hand. +ve test results in reflex twitching of the other fingers of the same hand.
141
What features are seen on opthalmoscopy in diabetic retinopathy?
Mild NPDR - 1 or more microaneurysm Moderate NPDR - Microaneurysms - Blot haemorrhages - Hard exudates - Cotton wool spots Severe NPDR - Blot haemorrhages and microaneurysms in 4 quadrants - Venous beading in at least 2 quadrants - IRMA in at least 1 quadrant Proliferative DR - Retinal neovascularisation - may lead to vitrous haemorrhage - Fibrous tissue forming anterior to retinal disc
142
Name some drugs that cause peripheral neuropathy
- Isoniazide - Vincristine - Amiodarone - Nitrofurantoin - Metronidazole
143
Name some clinical signs of Duchenne's Muscular Dystrophy
- Progressive proximal muscle weakness from 5 years of age - Calf pseudohypertrophy - Gower's sign: child uses arms to stand from squatted position - Intellectual impairment in 30%
144
What investigations should be carried out in suspected encephalitis?
- CSF: lymphocytosis, elevated protein, PCR for HSV, VZV and enteroviruses - Neuroimaging: medial temporal and inferior frontal changes (e.g. petechial haemorrhages). Normal in 1/3rd of patients. MRI is better. - EEG: lateralised periodic discharges at 2Hz
145
How would you treat Generalised tonic-clonic seizures?
Males: Sodium valproate Females: Lamotrigine or Levetiracetam
146
How would you treat focal seizures?
First line: Lamotrigine or Levetiracetam Second Line: Carbamazepine, Oxcabazepine or Zonisamide
147
How would you treat absence seizures?
First Line: Ethosuximide Second Line: Male: Sodium Valproate Female: Lamotrigine or Levetiracetam Carbamazepine may exacerbate absence seizures
148
How would you treat myoclonic seizures?
Males: Sodium Valproate Females: Levetiracetam
149
How would you treat atonic seizures?
Males: Sodium Valproate Females: Lamotrigine
150
What are the clinical features of episcleritis?
- Red eye - Not painful, but mild irritation is common - Watering - Mild photophobia - Injected vessels are mobile when gentle pressure is applied on sclera in comparison to scleritis where vessels are deeper and do not move - Phenylephrine drops can differentiate between scleritis and episcleritis - blanches conjunctival and episcleral vessels. If eye redness improves -> episcleritis - Approx 50% of cases are bilateral
151
What are the features of essential tremor?
- Autosomal dominant - Usually affects both upper limbs - Postural tremor: worse if arms outstretched - Improved by alcohol and rest - Most common cause of titubation (head tremor) Treatment: propranolol and primidone is sometimes used
152
What are the clinical features of facioscapulohumeral muscular dystrophy?
- Autosomal dominant - Facial muscles involved. first - difficulty in closing eyes, smiling, blowing etc - Weakness of the shoulder and upper arm muscles - Abnormal prominence of the borders of the shoulder blades - 'winging' - Lower Limb: hip girdle weakness, foot drop
153
What are the features of Foster-Kennedy syndrome (Frontal Lobe Lesions)?
- Optic atrophy in the ipsilateral eye - Papilloedema in the contralateral eye - Central scotoma in the ipsilateral eye - Anosmia
154
What are the clinical features of Miller Fisher syndrome?
- Ophthalmoplegia, Areflexia and Ataxia - Eye muscles are usually affected first - Usually presents as a descending paralysis rather than ascending as seen in other forms of GBS - Anti-GQ1b antibodies are present in 90%
155
What clinical features and investigations would you expect with GBS?
- May be hx of gastroenteritis - Respiratory muscle weakness - Cranial nerve involvement: diplopia, bilateral facial nerve palsy, oropharyngeal weakness is common - Autonomic involvement: urinary retention, diarrhoea Ix: - LP: elevated protein - NCS: decreased motor nerve conduction velocity (due to demyelination), prolonged distal motor latency and increased F wave latency
156
What are the genetic abnormalities in Huntington's Disease?
- Autosomal dominant - Trinucleotide repeat disorder: repeat expansion of CAG - Results in degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia - Due to defect in huntingtin gene on chromosome 4
157
What are the features of Huntington's disease?
- Chorea - Personality changes (e.g. irritability, apathy, depression) and intellectual impairment - Dystonia - Saccadic eye movements
158
What are the stages of hypertensive retinopathy?
1 - arteriolar narrowing and tortuosity, increased light-reflex - silver wiring 2 - Arteriovenous nipping 3 - Cotton wool exudates. Flame and blot haemorrhages - may collect around the fovea resulting in a 'macular star' 4 - Papilloedema
159
What are the risk factors for IIH?
- Obesity - Female - Pregnancy - Drugs: COCP, steroids, tetracyclines, retinoids, lithium
160
What are the features of IIH?
- Headache - Blurred vision - Papilloedema - Enlarged blind spot - Sixth nerve palsy
161
What are the features of inclusion body myositis?
- Typically affects older males - Can affect both proximal and distal muscles - Characteristically affects quads and finger/wrist flexors
162
What muscles in the hand are supplied by the median nerve?
Lateral 2 lumbricals Opponens pollicis Abductor pollicis brevis Flexor pollicis brevis
163
Which muscles in the forearm are supplied by the median nerve?
- Pronator teres - Palmaris Longus - Flexor carpi radialis - Flexor digitorum superficialis - Flexor pollicis longus - Flexor digitorum profundus (only the radial half)
164
What bacteria cause meningitis?
- Streptococcus pneumoniae - most common cause. May follow on from an episode of otitis media - Neisseria meningitidis - Listeria monocytogenes - more common in immunocompromised and elderly - Haemophilus influenzae type B
165
What are the features of MSA?
- Parkinsonism - Autonomic disturbance: erectile dysfunction (often an early feature), postural hypotension, atonic bladder - Cerebellar signs
166
What do nerve conduction studies show for axonal and demyelinating conditions?
Axonal: - Normal conduction velocity - Reduced amplitude Demyelinating: - Reduced conduction velocity - Normal amplitude
167
What are the typical features of Neuroleptic Malignant Syndrome?
- Occurs in patients taking anti-psychotic medication - Pyrexia - Muscle rigidity - Autonomic lability: typical features include HTN, tachycardia and tachypnoea - Agitated delirium with confusion - Raised CK in most cases - AKI secondary to rhabdo may develop in severe cases - Leukocytosis may also be seen - Treated with Dantrolene
168
What is required for diagnosis of neuromyelitis optica?
1. Spinal cord lesion involving 3 or more spinal levels 2. Initially normal MR brain 3. Aquaporin 4 positive serum antibody
169
What features are seen on fundoscopy in papilloedema?
- Venous engorgement: usually first sign - Loss of venous pulsation: although many normal patients do not have normal pulsation - Blurring of the optic disc margin - Elevation of the optic disc - Loss of the optic cup - Paton's Lines: concentric/radial retinal lines cascading from the optic disc
170
What are the causes of papilloedema?
- SOL: neoplastic, vascular - Malignancy hypertension - Idiopathic Intracranial Hypertension - Hydrocephalus - Hypercapnia - Hypoparathyroidism - Hypocalcaemia - Vitamin A toxicity
171
Name some paraneoplastic syndromes associated with detectable antibodies.
- Lambert Eaton Myasthenia syndrome - Anti-Hu - SCLC - painful sensory neuropathy, cerebellar syndromes, encephalitis - Anti-Yo: ovarian, breast cancer - cerebellar syndrome - Anti-Ri: SCLC - retinal degernation
172
Name some causes of demyelinating pathology?
- GBS - CIDP - Amiodarone - HSMN type I - Paraprotein neuropathy
173
What some causes of axonal pathology?
- Alcohol - Diabetes Mellitus - Vasculitis - Vitamin B12 deficiency - HSMN type II
174
What is the mechanism of action of phenytoin?
Binds to sodium channels and increases their refractory period.
175
Name some of the adverse effects associated with phenytoin use.
Acute: - Initially dizziness, diplopia, nystagmus, slurred speech, ataxia - Later: confusion, seizures Chronic: - Common: gingival hyperplasia, hirsutism, coarsening of facial features, drowsiness - Megaloblastic anaemia (secondary to altered folate metabolism) - Peripheral neuropathy - Enhanced Vitamin D metabolism causing osteomalacia - Lymphadenopathy - Dyskinesia Idiosyncratic: - Fever - Rashes, including severe reactions such as toxic epidermal necrolysis - Hepatitis - Dupuytren's contracture - Aplastic anaemia - Drug-induced Lupus
176
Name some clinical features of PSP
- Postural instability and falls - Impairment of vertical gaze - Parkinsonism (bradykinesia is prominent) - Cognitive impairment - primarily frontal lobe dysfunction
177
What tracts are affected in Brown-Sequard syndrome and how does it present?
- Lateral corticospinal tract - ipsilateral spastic paresis below lesion - Dorsal columns - ipsilateral loss of proprioception and vibration sense - Lateral spinothalamic tract - contralateral loss of pain and temp sensation
178
How does Weber's syndrome present?
- Ipsilateral CN III palsy - Contralateral weakness of upper and lower extremity
179
Name some causes of transverse myelitis
- Viral infections: VZV, HSV, Cytomegalovirus, EBV, Influenza, Echovirus, HIV - Bacterial infections: syphilis, Lyme disease - Post-infectious (immune related) - First symptom of MS or neuromyelitis optica (NMO)
180
Name some features of Von-Hippel Lindau syndrome.
Autosomal dominant condition predisposing to neoplasia. It is due to an abnormality in the VHL gene located on short arm of chromosome 3. - Cerebellar haemangiomas - can cause SAH - Retinal haemangiomas: vitreous haemorrhage - Renal cysts (pre-malignant) - Phaeochromocytoma - Extra- Renal Cysts: epididymal, pancreatic, hepatic - Endolymphatic sac tumours - Clear-Cell Renal Cell Carcinoma
181
What are the features of Wernicke's encephalopathy?
Confusion Ophthalmoplegia and nystagmus Ataxia Thiamine deficiency Ix: - Decreased red cell transketolase - MRI If Wernicke's Korsakoffs also: Retrograde amnesia Anterograde amnesia Confabulation Korskoff's psychosis
182
How does poliomyelitis present?
- Acute flaccid weakness that is almost always unilateral - Reduced reflexes - Atrophy of affected limb's muscle - GI prodrome: N&V, abdo pain, constipation, diarrhoea - Bulbar paralytic poliomyelitis: resp muscle atrophy - Aseptic viral meningitis: neck stiffness, headache, fever, vomiting
183
What are the DDx of acute flaccid paralysis?
- Infectious: Poliovirus, West Nile Virus, Diphtheria - Disorders of neuromuscular transmission: Myasthenia Gravis, Lambert Eaton syndrome, Botulism, Tick paralysis - Myopathic: Rhabdomyolysis, Carnitine deficiency, Periodic paralysis - Neuropathic: GBS, Acquired motor or motor-sensory axonal neuropathy, Mononeuritis multiplex, Acute intermittent porphyria - Myelopathic: post-infectious transverse myelitis, arterial or venous spinal cord infarction, compression from spinal abscess, haemorrhage or tumour
184
What is pseudoathetosis a sign of?
Sensory Ataxia
185
Describe Huntington's Disease
- AD neurodegenerative disorder with hereditary chorea - Onset in 3rd to 4th decade - Caused by mutations in huntintin gene on chromosome 4, encoding a CAG repeat. Shows anticipation.
186
How does Huntington's present?
- Prodromal phase of mild psychotic and behavioural symptoms before the chorea, due to frontal-subcortical cognitive impairment - Chorea - Parkinsonism as disease progresses - Slow saccadic eye movements - Schizophrenia-like psychosis - Depression - Irritability - Dementia
187
What are the DDx for Huntington's Disease?
- Dementia - Parkinson's Disease - Tardive dyskinesia - Epilepsy - Psychosis/Bipolar disorder - Neuroacanthocytosis - SLE chorea - Anti-phospholipid syndrome - Thyroid Disease - Wilson's Disease - Hypoglycaemia - Polycythaemia - Sydenham's chorea associated with Rheumatic Fever
188
What are the causes of an abducens nerve palsy?
- Causes of mononeuritis multiplex - diabetes, CTD, vasculitis, infection e.g HIV, malignancy - Vascular lesion - Malignancy - Demyelination - Infection (Lyme's Disease, Syphilis) - Raised ICP ('false localising' sign) - Wernicke's encephalopathy can cause a bilateral abducens nerve palsy
189
What are the causes of INO
- MS - Vascular Disease
190
What does a patient need to be counselled on prior to commencing dopamine agonists?
- Hyperreligiosity - Gambling - Hypersexuality - Compulsive eating
191
What can cause carpal tunnel syndrome?
- Acromegaly - Rheumatoid arthritis - Diabetes - Hypothyroidism
192
What are the differential diagnoses of a foot drop?
- Common peroneal nerve palsy - Peripheral neuropathy (esp Charcot Marie Tooth disease) - Sciatic nerve palsy - L4/5 radiculopathy (prolapsed lumbar disc) - Lumbosacral plexopathy
193
What are the causes of Mononeuritis Multiplex?
- Wegener's granulomatosis - Amyloidosis - Rheumatoid arthritis - Diabetes mellitus - Sarcoidosis - Polyarteritis nodosa - Leprosy - Carcinomatosis WARDS PLC
194
What causes wasting of the small muscles of the hand?
- Anterior horn cell disease e.g. poliomyelitis, MND, syringomelia - Radiculopathy e.g. trauma, prolapsed disc - Plexopathy e.g. brachial plexus injury, Pancoast tumour, cervical rib - Peripheral nerve lesions - Muscle issues e.g. disuse atrophy in RA
195
What are the differential diagnoses of MND?
- Degenerative: cervical cord compression, cervical spondylosis - Inflammatory/traumatic/inherited: Syringomelia, spinal muscular atrophy - Infectious: Polio, Syphilis - Malignant/Paraneoplastic
196
What is Lhermitte's sign and Uhtoff's phenomenon?
- Lhermitte's sign - flexion of neck causes an 'electric shock' like sensation in the trunk and limbs, occurs in cervical spondylosis as well as MS - Uhthoff's phenomenon - an increase in the severity of symptoms (mainly visual), commonly precipitated by an increase in temperature or exercise.
197
How is MS classified?
- Relapsing-remitting - 85% of MS sufferers - Secondary progressive - follows a period of relapsing remitting MS - Primary progressive - 15% of cases. Progressive deterioration from the start
198
What malignancies are most likely to cause spinal cord compression?
- Mets from lung, breast or prostate Ca. - Kidney and thyroid primaries also commonly metastasise to bone - Multiple myeloma should be considered a cause of cord compression - Intrinsic spinal malignancy is rare
199
What is transverse myelitis?
- Inflammation of the spinal cord, characterised by axonal demyelination. Generally inflammation is across the thickness of the cord - Symptoms come on over a period of hours to weeks - The most common cause is MS - Viral and other infections can be implicated. Often, no cause is found - Steroids and plasma exchange may be helpful in management although neurorehab is crucial.
200
What is the pathology in hereditary spastic paraparesis?
Axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts, including the crossed and uncrossed corticospinal tracts to the legs and fascicular gracilis. Neuronal cell bodies of degenerating fibres are preserved and there is no evidence of primary demyelination.
201
What are the causes of a homonymous hemianopia?
- Vascular: Stroke - Trauma - Tumour - Infection: Encephalitis - Demyelination: MS
202
What are the common causes of a bitemporal hemianopia?
- Pituitary fossa tumour - Craniopharyngioma - Suprasellar meningioma

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