Neurology Flashcards
What are the components of the eye exam?
Diagnostic facies (acromegaly, Cushing's, hyperthyroid) Frontalis overreactivity Xanthelasma Ptosis/retraction - Middle of pupil to top lid should be 4mm or greater Exophthalmos Cornea - Arcus (hypercholesterolaemia) - Band keratopathy (hypercalcaemia) - Kayser-Fleisher rings Sclera and conjunctiva - Jaundice - Blue (osteogenesis imperfecta) - Pallor - Injection - Telangectasia Acuity Fields Blind spot Fundoscopy - Diabetes - HTN - Optic atrophy, papilloedema, angioid streaks, retinal detachment, central vein or artery thrombosis, retinitis pigmentosa Pupils - Light reflex (direct and consensual), Marcus Gunn (most likely RAPD), accommodation Eye movements - Gaze palsies (supranuclear lesions) - Saccades (horizontal and vertical) - Lid lag (hyperthyroidism) Diplopia worst in which direction? Eye fatiguability (upward 30sec) OR chicken wing Corneal reflex Palpate orbits Auscultate eyes (use bell, stop breathing)
Further: other CN, long tracts, U/A (DM)
Lesions in which area are responsible for one-and-a-half syndrome?
Dorsal pons (ipsilateral PPRF and MLF)
- Stroke
- MS
- Tumour
What are the signs of an upper motor neurone lesion?
- Weakness greater in upper limb extensors and lower limb flexors
- Spasticity
- Clonus
- Hyperreflexia and extensor plantar response
What are the signs of a lower motor neurone lesion?
- Fasciculations
- Wasting
- Hypotonicity
- Weakness
- Decreased or absent reflexes
What are the causes of peripheral neuropathy?
- Metabolic: DM, uraemia, hypothyroidism, porphyria
- EtOH (+/- thiamine deficiency)
- Drugs and toxins: amiodarone, isoniazid, vincristine, cisplatinum, phenytoin, Vit B6 toxicity, heavy metals
- Amyloidosis
- Guillain-Barre syndrome
- Tumour: lung cancer
- Vitamins: B12 or B1 deficiency, B6 toxicity
- Connective tissue disease: SLE, PAN
- Hereditary
- Idiopathic
What is the DDx for predominantly motor neuropathy?
DM GBS or CIDP MMN HMSN (Charcot-Marie-Tooth) Acute intermittent porphyria Lead poisoning Diphtheria Dapsone
Always consider MND and NMJ disorders
What is the DDx for predominantly sensory neuropathy?
DM EtOH Paraproteinaemia B12 deficiency (rarely) Sjogren's syndrome Carcinoma (lung, ovary, breast) Syphilis B6 intoxication Idiopathic
What is the DDx for painful peripheral neuropathy?
DM EtOH B12 or B1 deficiency Carcinoma Porphyria Arsenic or thallium poisoning Hereditary
What are the causes of Horner’s Syndrome?
3rd order (distal to superior cervical ganglion)
- Retro-orbital lesions
- Carotid artery lesions: aneurysm, thrombosis or dissection, pericarotid tumour, cluster headache
- Cavernous sinus lesions will affect only pupillomotor sympathetic fibres, which follow the ICA
2nd order (C8-T1 nerve roots to superior cervical ganglion)
- Neck: thyroid malignancy, trauma
- Apical lung tumour (usually SCC)
1st order (hypothalamus to C8-T1 nerve roots)
- Syringomyelia / cervicothoracic cord lesions
- Brain stem lesions: vascular, syringobulbia, tumour
- Hypothalamus/midbrain/pons/medullary lesions
What are the components of the speech exam?
Shake hand, check handedness
Expose and inspect
Orientation: name, place, date
DYSPHASIA
Nominal: Name objects on card Describe picture Repetition: "No ifs ands or buts". Comprehension: - 1 step: Point to the ceiling - 2 step: Touch your left ear with your right hand - 3 step: Touch your chin, then your nose, then your ear Reading: "Close your eyes" Writing: Dysgraphia
DYSARTHRIA
Articulation - "Baby hippopotamus" = lips - "Yellow lorry" = tongue - "We see three grey geese" = palate - Pa pa pa = lips - Ta ta ta = tongue - Ka ka ka = palate Fatiguability - Count to 30 = MG Bulbar exam - Palatal movement CN IX, X - Uvular movement CN X (away from lesion) - Cough and swallow CN IX, X - Gag reflex CN IX, X - Tongue fasciculations CN XII - Stick tongue out CN XII
What are the main differences between bulbar and pseudobulbar palsy?
Pseudobulbar affects CN V, VII, IX, X, XII
Bulbar affects CN IX, X, XII
Gag: increased PBP, decreased BP
Jaw jerk: increased PBP, normal BP
Tongue: spastic PBP, fasciculations and flaccid BP
Speech: spastic PBP, raspy (unilateral) or nasal BP
Emotional lability PBP
What are the signs of a non-dominant parietal lobe lesion?
Dressing apraxia
Visual and sensory inattention
What are the components of a Parkinson’s examination?
Observation
- Hypomimia, reduced blink rate
- Drooling
- Resting, pill-rolling tremor
- Hypophonia (low volume, monotonous, tremulous)
Upper limbs
- Pill-rolling tremor (pron-supination), often asymmetrical, 3-5Hz, worsens on distraction/synkinesis, improves on finger-nose.
- Cogwheel rigidity - wrists
- Leadpipe rigidity - elbows
- “Count backwards from 20” => Hypophonia + distraction
- Synkinesis (rigidity worsens with contralateral intentional movements)
- Bradykinesia / hypokinesia (finger fractionation)
- Micrographia
Face
- Glabellar tap (Myerson’s sign)
- Blepharoclonus
- Keiser-Fleisher rings
- Vertical gaze palsy
Gait
- Stooped neck with flexed elbows/knees
- Festinating, shuffling
- Freezing
- Narrow-based
- Small stride length
- Low ground clearance
- Reduced arm swing
- Accentuation of tremor
- Postural instability
- Propulsion / retropulsion
Extra
- Postural hypotension (MSA, L-dopa Rx)
- Seborrhoeic dermatitis (autonomic dysfunction)
PSP
- Impaired vertical gaze (PSP)
- Axial rigidity
MSA
- Pyramidal signs (MSA)
- Cerebellar signs (MSA-c): check reflex, dysmetria, dysdiadochokinesis
CBD
- Limb apraxia
- Cortical sensory loss
- Flexion dystonia of one upper limb
- Myoclonus (CBD)
Basal ganglia stroke/tumour
- Upper and lower limb neuro
What is the DDx for Parkinsonism?
Parkinson's Disease Parkinson's Plus - PSP, MSA-c or MSA-p, CBD DLB Drugs: - metoclopramide - prochlorperazine - chlorpromazine - sodium valproate - methyldopa Dementia pugilistica Normal pressure hydrocephalus Anoxic brain damage Wilson's disease Toxins: CO, manganese, MPTP
What are the treatments for Parkinson’s Disease and what are the potential side effects?
Levodopa - motor fluctuations, dyskinesias, hallucinations and postural hypotension
Dopamine agonists - confusion; cabergoline and bromocriptine => cardiac valve fibrosis. Impulse control disorders.
Apomorphine ?dopamine agonist
MAO-Bi (selegiline, rasagiline) - confusion
Anticholinergics (benztropine) for tremor
COMTi - dyskinesia
Amantadine (NMDA-R antagonist) - confusion
What are the key clinical features of Charcot-Marie-Tooth Disease?
Lower limbs
- Pes cavus
- Clawed toes
- Foot drop
- Absent ankle jerks
- Stork leg deformity
- Palpable common peroneal nerve at fibular head
- Sensory loss (myelinated dorsal columns)
Upper limbs
- Claw hand (MCP extension, IP flexion)
- Distal muscle wasting
- Reduced reflexes
- Length-dependent sensory loss
- Postural tremor
What are the key clinical features of Motor Neurone Disease?
Observation
- Walking aids, AFO
Head
- Bulbar palsy or pseudobulbar palsy (facial muscles, pharyngeal elevation, tongue fasciculations/wasting/flaccidity, speech)
- Ocular muscles NEVER involved in MND
Limbs
- Fasciculations and wasting, often asymmetrical and distal
- Claw hand
- Hypertonia
- Weakness
- Hyperreflexia
- Hoffman’s sign (middle DIP flexion => thumb flexion)
- No sensory defects
Other
- Increased work of breathing
- Assess upright vs supine FVC
What are the key clinical features of a cerebellar syndrome?
Upper limbs
- Dysdiadochokinesis
- Dysmetria
- Intention tremor
- Rebound phenomenon
- Cerebellar hypotonia
- Normal or pendular reflexes
Face
- Coarse horizontal nystagmus
- Hypo- or hypermetric saccades
- Slurred, staccato speech
Lower limbs
- Wide-based gait
- Rhomberg’s negative
What are the key clinical features of myotonic dystrophy?
Face
- Myopathic facies: lifeless, lean, expressionless. Mouth open.
- Frontal balding
- Ptosis
- Difficulty opening eyes after tight closure
- Cataracts
- Wasting of temporalis, maseter, SCMs
Upper limbs
- Wasting of small muscles of the hands
- Claw hand
- Distal weakness
- Myotonia on hand grip, or hypothenar percussion
Lower limbs
- Foot drop (high-stepping gait)
- Reduced deep tendon reflexes
Heart
- Cardiomyopathy
- MVP
- AF
- Conduction defects ?PPM
Other
- DM
- Hypogonadism: gynaecomastia, testicular atrophy
- Respiratory infections (hypogamma)
- Somnolence
What is the DDx for internuclear ophthalmoplegia?
MS
Brainstem lesions (infarct, haemorrhage, tumour, aneurysm)
Wernicke’s encephalopathy
SLE
Miller Fisher Syndrome
Drug overdose (tricyclic antidepressants, phenytoin, carbamazepine, opiates, barbiturates)
What are the causes of bilateral ptosis with normal pupils?
Senile ptosis Thyrotoxic myopathy MG Myotonic dystrophy FSH dystrophy Ocular myopathy Oculopharyngeal dystrophy Duchenne and Becker muscular dystrophy Chronic progressive external ophthalmoplegia Tabes dorsalis (syphilis)
What are the causes of a third nerve palsy?
Central:
- Vascular (brain stem stroke)
- Tumour
- Demyelination
- Trauma
Peripheral:
- pComm aneurysm
- Tumour causing raised ICP
- Nasopharyngeal carcinoma
- Orbital lesions
- Basal meningitis
- Infarction (DM, arteritis)
- Trauma
- Cavernous sinus lesions
What are the causes of mononeuritis multiplex?
DM PAN / GPA / EGPA SLE / RA / Sjogren's Sarcoidosis / Amyloidosis Lymphoma / Carcinoma Lyme disease Leprosy
Which drugs are associated with tremor?
Beta agonists
Ciclosporin and tacrolimus
Anticonvulsants
Lithium
Which disorders are associated with trinucleotide repeats?
Huntington's Disease Myotonic Dystrophy Fragile X Friedrich's ataxia Spinocerebellar ataxia
What is the DDx for motor neuropathy?
CIDP / GBS Lead Diphtheria Porphyria Dapsone
What is the DDx for sensory neuropathy?
DM Hypothyroidism EtOH Uraemia Sarcoidosis Amyloidosis Paraneoplastic Vasculitis B12 deficiency Infections: HIV, leprosy, Lyme disease Drugs: Isoniazid, metronidazole, chloroquine, hydralazine, flecainide, pyridoxine, colchicine
What is the DDx for sensorimotor neuropathy?
DM Hypothyroidism EtOH Uraemia Sarcoidosis Vasculitis Paraneoplastic CIDP / GBS HMSN (Charcot-Marie-Tooth) Drugs: Vincristine, vincblastine, paclitaxel, cisplatin, amiodarone, nitrofurantoin, gold
What is the DDx for a small fibre neuropathy?
DM Hypothyroidism EtOH Amyloidosis Isoniazid, metronidazole, cisplatin, disulfiram Heavy metals : gold, arsenic, thallium Sjogren's syndrome Primary biliary cirrhosis HIV
What are the causes of demyelinating polyneuropathies?
GBS CIDP Multiple myeloma MGUS HMSN type 1 and 3 HNPP Refsum's POEMS MMN HIV Diphtheria Tacrolimus Perhexiline Chloroquine
What are the typical features of Friedrich’s ataxia?
Bilateral pes cavus
Kyphoscoliosis
High-arched palate (also Marfan’s, Turner’s, tuberous sclerosis)
Cerebellar signs: Broad-based gait, dysdiadochokinesis, dysmetria, intention tremor, rebound phenomenon, horizontal nystagmus, broken pursuit or saccadic hypo- or hypermetria.
Distal wasting and weakness in a pyramidal distribution
Reduced posterior column sensation (and positive Rhomberg’s), depressed lower limb reflexes, upgoing plantars.
Hypertrophic cardiomyopathy - jerky pulse, double apical pulse, ES murmur
Diabetes - retinopathy
Optic atrophy
Sensorineural deafness
Which disorders can cause Lhermitte’s sign?
MS
Cervical myelopathy
Cervical cord tumour
Subacute combined degneration of the cord (B12 deficiency)
What is the DDx for CSF oligoclonal bands?
MS NMO SAH GBS SLE Behcet's disease CNS lymphoma Meningoencephalitis Neurosarcoidosis Neurosyphilis
Which patients with myasthenia gravis should have thymectomies?
Generalised disease AND
Less than 3-5yrs since disease onset AND
Age under 60-65 AND
Symptoms not fully relieved by anticholinesterase drugs (eg. pyridostigmine)
What is the treatment ladder in myasthenia gravis?
Pyridostigmine +/- thymectomy
Prednisone + azathioprine
Mycophenolate
Rituximab
Alternatives: MTX, tacrolimus, cyclosporin
Which medications should be avoided in myasthenia gravis?
Muscle relaxants Penicillamine Amonoglycosides Fluoroquonilones Macrolides
What are the upper limb myotomes?
Shoulder - AB C5, 6 - AD C6, 7, 8 Elbow - Flex C5, 6 - Ext C7, 8 Wrist - Flex C6, 7 - Ext C7, 8 Finger - Flex C7, 8 - Ext C7, 8 - AB C8, T1 - AD C8, T1
What are the lower limb myotomes?
Hip - Flex L2, 3 - Ext L5, S1, 2 - AD L2, 3, 4 - AB L4, 5, S1 Knee - Flex L5, S1 - Ext L3, 4 Ankle - Plant S1, 2 - Dorsi L4, 5 - Ev L5, S1 - Inv L5, S1
What are the different patterns on nerve conduction studies?
Axonal neuropathy
- Reduced CMAP amplitude
Demyelinating neuropathy
- Slowed conduction velocity
- Prolonged terminal latency
- Conduction block if severe
Compressive neuropathy
- Prolonged terminal latency
- Conduction block if severe
What are the different patterns on electromyography?
Short duration, low amplitude, early recruitment = myopathic
Long duration, high amplitude, reduced recruitment = neuropathic
Fibrillation potentials = active denervation/inflammation
Reinnervation = long-duration, high-amplitude polyphasic MUAPs
Acute denervation
- Prolonged insertional activity
- Fibrillations and positive sharp waves on spontaneous activity
- Reduced recruitment
Active (inflammatory) myopathy
- Prolonged insertional activity
- Fibrillations and positive waves on spontaneous activity
- Early recruitment
Chronic neuropathies
- Fasciculations
- Neuropathic potentials: large amplitude, long-duration, polyphasic potentials
- Reduced recruitment
Motor neurone disease
- Fasciculations
- Fibrillation potentials
- Neuropathic potentials: large amplitude, long-duration, polyphasic MUAPs, reduced recruitment
Chronic myopathies
- Myopathic potentials: small-amplitude, short-duration, polyphasic potentials
- Rapid recruitment
Myotonic dystrophy
- Myotonic discharges
What is the differential for a proximal myopathy?
EtOH
Drugs: Statins, colchicine, antimalarial drugs, penicillamine
Endocrine: Steroids / Cushing’s, hypo/hyperthyroidism, diabetes, hyperparathyroidism, osteomalacia
Electrolytes: Hypokalaemia, hypophosphataemia, hypocalcaemia, hyper/hyponatraemia
Viral: influenza, parainfluenza, coxsackie, echovirus, adenovirus, HIV, CMV, EBV
Haemodialysis
Polymyositis/dermatomyositis
Inclusion body myositis (prox lower limbs)
Duchenne/Becker muscular dystrophy
Vasculitis
Overlap autoimmune syndromes: SLE/RA/Sjogren/scleroderma
RA, Sjogren
What are the differentials for cerebellar dysfunction with decreased/absent lower limb reflexes?
- Friedreich’s ataxia - weakness, dorsal column loss, optic atrophy, hearing loss, kyphoscoliosis, CCF, DM
- Ataxia telangiectasia: oculocutaneous telangiectasias, diabetes, pulmonary disease
- Roussy-Levy variant of CMT
- Vit E deficiency
- Abetalipoproteinaemia
- Refsum disease: icthyosis, sensorimotor neuropathy
What are the differentials for length-dependent motor neuropathies?
CMT CIDP GBS Thiamine deficiency Vasculitis Sarcoidosis Paraneoplastic HIV Tick paralysis Lyme disease Arsenic poisoning Porphyria
What are the differentials for hereditary spastic paraparesis?
- MND (primary lateral sclerosis): bulbar and upper limb involvement
- Spinal cord tumours (meningioma, neuroma, mets)
- Spinal cord infarction, bleeding, AVM
- Syringomyelia (usually sensory also)
- Demyelination: Progressive MS, NMO
- Transverse myelitis: MS, NMO, viral, autoimmune
- Adrenoleukodystrophy (adrenal insufficiency + myelopathy)
- Deficiencies: B12, copper
- Autoimmune: SLE, Sjogren syndrome, Antiphospholipid syndrome
- Infections: HIV, neurosyphilis, neuroborelliosis
- Hereditary: Spinocerebellar ataxia, Friedreich ataxia, apolipoproteinaemia
- Cerebral palsy
What are the components of the higher centres examination?
Dominant parietal
- Gerstman’s syndrome
Non-dominant parietal
- Dressing apraxia
General parietal
- Sensory and visual inattention
- Agraphasthesia, astereognosis
- Constructional apraxia
Temporal
- Short term memory: 3 words
- Long term memory: when were the Sydney Olympics?
- Recall 3 words
Frontal
- Grasp, pout, palmar-mental reflexes
- Interpret a rolling stone gathers no moss
- Anosmia
- Shuffling gait with freezing
- Ipsilateral optic atropy + contralateral papilloedema
What is the DDx for MND?
Cervical myeloradiculopathy (has sensory disturbance)
MMN
HMSN
Friedreich’s ataxia (dorsal column and cerebellar)
Subacute degeneration of the spinal cord (dorsal column + peripheral neuropathy )
Syphilis (dorsal column)
Cord compression, demyelination (sensory changes)
Other anterior horn cell disorders: poliomyelitis, spinal muscular atrophy
What is the DDx for chorea?
Huntington's disease Sydenham's chorea Chorea gravidorum Senility Drugs (L-dopa, phenothiazines, OCP, phenytoin) Stroke Hyperthyroidism Idiopathic hypoparathyroidism SLE PCV or other causes of hyperviscosity Wilson's disease Vasculitis Viral encephalitis
What are the common causes of cerebellar syndrome?
Toxic and metabolic - EtOH - Hypothyroidism - B12 or Vit E deficiency - Hypocalcaemia, hypomagnesaemia Drugs: - Lithium - Phenytoin, carbamazepine - ChemoRx Malignancy - Cerebellar mets - Paraneoplastic. Gynae (anti-Yo), bronchogenic carcinoma Posterior fossa masses - Haemangioblastoma (VHL) - Vestibular schwannoma Cerebellar stroke (clot or bleed) Vertebrobasilar insufficiency Brainstem lesions Posterior fossa masses Congenital - Friedreich's ataxia - Ataxia telangectasia
What are the causes of Argyll-Robertson pupils?
Neurosyphilis Autonomic neuropathy MS Sarcoidosis Pinealoma Tumours of the posterior 3rd ventricle Syringobulbia Brainstem encephalitis
Which are the risk factors for vitamin B6 deficiency and associated neuropathy?
Isoniazid Penicillamine Hydralazine Haemodialysis Malnutrition
What are the causes of peripheral neuropathy and autonomic neuropathy?
DM B12 deficiency EtOH Chemotherapy HIV Amyloidosis Porphyria Heavy metal toxicity
What are the causes of unilateral and bilateral cerebellar syndromes?
Unilateral:
- Multiple sclerosis
- Stroke
- Tumour (VHL)
Bilateral:
- EtOH
- Hypothyroidism
- Paraneoplastic (bronchogenic carcinoma)
- Friedrich’s ataxia
- Ataxia telangiectasia
What does pupillary sparing with a 3rd nerve palsy suggest?
Vascular cause, such as DM or arteritis
- Pupillomotor fibres are around the periphery of the CNIII
Compression of CNIII usually affects pupil
What are the causes of a CN III palsy?
DM HTN Multiple sclerosis PCom aneurysm Syphilis Vasculitis Parasellar neoplasms Base of skull carcinoma Basal meningitis Encephalitis Ophthalmologic migraine
How may CN III nuclear lesions present?
Bilateral CN III palsy
Unilateral CN III palsy with bilateral partial ptosis and contralateral superior rectus weakness
What are the causes of a unilateral facial nerve (CN VII) palsy?
Bell’s palsy Parotid tumour Herpes Zoster (Ramsay-Hunt) Otitis media Cerebellopontine angle tumour (CN V and CN VIII) Old polio Skull fracture Pontine nuclear lesion (commonly involves CN VI also)
What are the causes of a cerebellopontine angle lesion?
Acoustic neuroma (vestibular schwannoma) Pontine glioma Meningioma Cholesteatoma Haemangioblastoma Medulloblastoma or astrocytoma of cerebellum Basilar artery aneurysm Nasopharyngeal carcinoma Meningeal involvement from syphillis or TB
Which genetic conditions predispose to cerebellopointine angle tumours?
NF2 (schwannomas)
Familial adenomatous polyposis (medulloblastomas)
What are the causes of foot drop?
MND Lumbosacral plexus lesion Poliomyelitis Sciatic nerve palsy Peroneal nerve palsy (mononeuritis, plaster cast of leg, rapid weight loss, crossed legs, leprosy) - inversion preserved Peripheral neuropathy - CMT (HMSN) - Lead/arsenic poisoning Myotonic dystrophy, IBM, MG
What are the findings in tabes dorsalis?
Dorsal column signs Positive Romberg's Ataxic gait Argyll-Robertson pupils Rarely: optic atrophy, spinothalamic signs
What is the pathway involved in pupillary light reflex?
Optic nerve
Superior colliculus (pretectal midbrain)
Decussation of Meynert
Edinger-Westphal nucleus (midbrain)
What is a reverse Argyll-Robertson pupil and what causes it?
Reacts but does not accomodate
- Caused by Parkinsonism causes by encephalitis lethargica
What are some causes of anisocoria?
CN III palsy Horner's syndrome Iritis Monocular blindness or amblyopia Stroke Severe head trauma
What are the characteristics of an Adie tonic pupil?
- Idiopathic parasympathetic lesion (ciliary ganglion or postganglionic short ciliary nerves within the orbit)
- Acute: pupillary dilatation with partial paresis or accommodation and light reaction
- Chronic: slow pupillary dilatation following release of accommodative constriction
- Associated with depressed lower limb reflexes and segmental anhydrosis
Which myopathies affect the proximal upper limbs and distal lower limbs?
FSH muscular dystrophy (facial)
Emery-Dreifuss (X-linked, colour blind, face spared)
What key feature distinguishes Hereditary spastic paraparesis from other causes of spastic paraparesis?
Spasticity > weakness
What are the causes of botemporal hemianopia?
PItuitary tumour (superior fields affected first)
Craniopharyngioma (inferior fields affected first)
Suprasellar meningioma
AComm aneurysms (compress superior chiasm)
Metastases
Glioma
What are the causes of spinal cord hemisection?
Syringomyelia Haematomyelia Cord tumour Degenerative spinal disease Multiple myeloma Bullet or stab wounds
What are the causes of bulbar palsy?
MND GBS Neurosyphilis Neurosarcoidosis Poliomyelitis Syringobulbia Nasopharyngeal tumour, particularly post-radiotherapy
What are the causes of carpal tunnel syndrome?
OCP Pregnancy Hypothyroidism RA Acromegaly Hyperparathyroidism Amyloidosis (eg multiple myeloma, dialysis - beta2microglobulin) Sarcoidosis
What are the neurological findings in cauda equina syndrome?
Flaccid asymmetrical paralysis
Diminshed knee/ankle jerks
Saddle distribution sensory loss up to L1
Plantars downgoing
What are some causes of central scotoma?
MS Optic nerve compression by tumour, aneurysm Glaucoma Macular degeneration Toxins: methanol, tobacco, lead, arsenic Retinal artery thrombosis: retinal artery thrombosis, GCA, syphilis, iodiopathic Paget's disease Vit B deficiency Retinitis pigmentosa Freidrich's ataxia Leiber's optic atrophy Valsalva retinopathy Bungee jumping
What is the significance of anti-Yo antibodies in cerebellar syndromes?
Suggests paraneoplastic syndrome secondary to gynae, usuall ovarian, cancer
How are cerebellar lesions localised?
Tandem gait disturbance - anterior lobe
Truncal ataxia - posterior lobe
Limb ataxia - lateral lobes
What is the management of Huntington’s disease?
- Antidepressants
- Valproate and olanzapine for psychotic features
- Consider mantadine, riluzole, tetrabenazine
What maternal factors predispose to neural tube defects?
Sodium valproate use in pregnancy
Maternal DM
What extra-muscular features are associated with FSH dystrophy?
High frequency hearing loss
Retinal telangiectasias
OSA
Which conditions can present with absent deep tendon reflexes and upgoing plantars?
MND
Peripheral neuropathy with stroke
B12 deficiency and subacute degeneration of the cord
Tabes dorsalis (syphilis)
Which conditions present with spinocerbellar ataxia?
Roussy-Levy disease Refsum's disease Bassen-Kornzweig syndrome Olivopontocerebellar degeneration Machado-Joseph disease - ophthalmoparesis, spasticity, dystonia, Parkinsonism Dentatorubral pallidoluysian atrophy
What are the features of POEMS syndrome?
Polyneuropathy Organomegaly Endocrinopathy M protein Skin changes
Lambda = POEMS Kappa = MGUS
Which structures are involved in vertical gaze?
Rostral interstitial nucleus of the MLF (pontine)
Midbrain
Posterior commisure
What are the causes of upbeat and downbeat nystagmus respectively?
Upbeat: cerebellar anterior vermis
Downbeat: brainstem lesions, meningoencephalitis, hypomagnesaemia
How does Madras motor neurone diseaes present?
- Asymmetrical limb weakness and wasting
- Bulbar and facial involvement
- Sensorineural deafness
- Early onset < 30 yo
What is the DDx for a demyelinating CNS disease?
MS
NMO
Leukodystrophies
Tuberous sclerosis (patchy demyelination)
What are the causes of myotonia?
Myotonic dystrophy Congenital myotonia (associated diffuse hypertrophy) Paramyotonia congenita Polymyositis Myotubular myopathy Acid maltase deficiency Colchicine, clofibrate
Which diseases cause prominent distal weakness?
Myotonic dystrophy type 1
Inclusion body myositis
Welander’s distal myopathy
What are the clinical findings in neurofibromatosis type 1?
Neurofibromas Cafe-au-lait spots Axillary or inguinal freckling Kyphoscoliosis Lisch nodules in the iris HTN (phaeo or renal artery stenosis) Osseous lesions such as sphenoid dysplasia, long bone pseudoarthrosis
What levels of radial nerve injury causes triceps and brachioradialis weakness respectively?
- Triceps: above the junction between the upper and middle thirds of the humerus
- Brachioradialis: middle third of the humerus
What are the causes of bilateral facial nerve palsy?
GBS
Sarcoidosis
Melkersson-Rosenthal syndrome (recurrent facial oedema, plication of tongue)
MG may mimic
Where is the lesion if ipsilateral facial nerve and abducens nerve palsies are present?
Brainstem nucleus (pons)
Which cranial nerves are usually affected in syringobulbia?
V, VII, IX, X
What are the clinical findings in ataxia telangiectasia?
Cerebellar ataxia
Eye movement abnormalities
Oculocutaneous telangectasias
Immune deficiency
Associations:
- Insulin resistance
- Pulmonary disease
- Increased rate of malignancies
What are the causes of transverse myelitis?
- MS, NMO, ADEM
- HSV-2, VZV, CMV
- Syphilis, mycoplasma, spinal cord abscess, aspergillosis
- SLE, Sjogren’s, MCTD, SSc, sarcoidosis, Behcet’s
- Anterior spinal artery or posterior spinal artery occlusion
- Intramedullary mets, meningioma, neurofibroma, paraneoplastic
Which connective tissue diseases predispose to intracranial aneurysms?
Polycystic kidney disease
Ehlers-Danlos disease (type IV)
Pseudoxanthoma elasticum
Fibromuscular dysplasia
What are the causes of retinal artery occlusion?
Giant cell arteritis Syphilis Collagen vascular diseases Intranasal cocaine and arteriolar spasm Sickle cell disease Increased orbital pressure (eg retrobulbar haemorrhage, Graves ophthalmopathy)
What is the DDx for optic neuropathy?
Optic neuritis:
- MS
- NMO
- ADEM
- Behcet’s
- SLE
- Sarcoidosis
- TB
- Syphilis
- Bartonella
- Viral
Compression:
- Tumours. Meningioma, pituitary masses, glioma
- Mets
- Thyroid ophthalmopathy
- Aneurysms
Toxic:
- B12 deficiency
- Methanol intoxication
- Tobacco
