Neurology Flashcards
(123 cards)
1
Q
Causes of sensory polyneuropathy
A
Diabetes
Hypothyroidism
Uraemia
B1, B6 and B12 deficiencies
Chemotherapy
Alcohol
CIDP
Sarcoidosis
ANCA positive vasculitis
Rheumatoid
Paraneoplastic - solid organ/paraprotienaemia
2
Q
Bedside tests in sensory polyneuropathy
A
Bedside glucose
Fundoscopy
Urine
3
Q
Signs in Charcot-Marie-tooth
A
Wasting in distal muscle
High arched feet
Flaccid tone
Power reduced distally
Reduced reflexes
Sensation, vibration and proprioception reduced
High steping gait with foot drop
Rhomberg’s positive
4
Q
Genetic cause of Charcot-Marie-Tooth
A
Multiple types, most commonly autosomal dominant
5
Q
EMG findings in Charcot-Marie-Tooth
A
Severe uniformly reduced neuropathy
Type 1 - demyelinating
6
Q
Treatment in Charcot-Marie-Tooth
A
Family testing
Physiotherapy
Podiatrist
Orthotics
Occupational therapy
Nil disease modifying
7
Q
Signs of stroke in limb exam
A
Increased tone
Hyperreflexia
Reduced power
Clonus
8
Q
Additional clinical signs in stroke to elicit
A
Pulse - irregular ?AF
Auscultate the carotids ?bruit
Blood pressure
Murmur ?valvular heart disease
BM - diabetes
9
Q
Management of acute stroke
A
Urgent CT head +/- CTA
?MRI brain
USS doppler carotid - stenosis >70%
ECG
Ambulatory ECG/BP measurement
If under 50 years ECHO with bubble studies - foramen ovale
10
Q
Causes of spastic paraparesis
A
Compressive:
- Disc herniation
- Tumours
- Spinal stenosis
Vascular:
- Spinal stroke
Autoimmune
- MS
- Lupus
- Sarcoid
Infectious
- HIV
- Varicella
Nutritional
- B12
- Copper deficiency
Hereditary spastic paraparesis
11
Q
Investigations in MS
A
MRI brain and spinal cord
LP - oligoclonal bands
12
Q
Management of acute relapse of MS
A
High dose IV steroids - methylpred
No signs of infection eg urine dip and CXR
Monitoring BMs
PPI cover
13
Q
Causes of cerebellar ataxia
A
Stroke - ischaemic or haemorrhagic
MS
Alcohol
B12 deficiency
Genetic e.g Friedrichs ataxia, ataxia telangiectasia, Fragile X
Paraneoplastic
14
Q
Investigation of cerebellar ataxia
A
MRI
15
Q
Signs of cerebellar syndrome
A
Scanning dysarthria (staccato)
Titulating head tremor
Dysdiadokinesia
Past pointing
Intention tremor
Hypotonia
Ataxia
16
Q
Signs in sensory Ataxia
A
Pseudoathetosis
Finger nose testing difficult in eyes closed
Impaired sensation and vibration sense
Worsening of symptoms with eyes closed
17
Q
Causes of sensory ataxia
A
Central - spinal cord (dorsal column) damage
Peripheral
- Alcohol
- B1, 6 or 12 deficiency
- Diabetes
- Hypothyroidism
Chemotherapy and medications (antibiotics and antivirals)
Rheumatoid arthritis or GPA
CIDP or GBS
HIV
Genetic causes
18
Q
Management of MND
A
Referral to specialist neurology clinic
Riluzole
Early morning blood gas and FVC
Cough assistive devices
BiPAP
MDT - OT, PT
Weight and swallowing
Dietician
PEG
Communication aids
Screen for frontotemporal dementia
Screening family and genetics e.g. C9orf72 expansion (most common) and Kennedys disease (X-linked)
19
Q
Findings in MND
A
Fasciculations
Wasting
Weakness
Combined UMN and LMN signs
20
Q
Ix in MND
A
Clinical diagnosis
EMG - denervation
MRI brain and cervical cord to exclude lesions
Potentially genetic testing
21
Q
Ix in sensory ataxia
A
BM
Urine dip
Eye exam - diabetic retinopathy
Bloods:
- Hba1c
- TFTs
- CTD screen
- U&Es and LFTs
- IG and electrophoresis
Nerve conduction studies
- Axonal degeneration
- Demyelination seen in CIDP or GBS
22
Q
Similar conditions to MND
A
Spinal muscular atrophy
Kennedy’s disease
Multifocal motor neuropathy
23
Q
Post polio syndrome symptom
A
Progressive weakness
Pain
Fatigue and cramp
Clinical diagnosis
24
Q
UMN signs
A
Hypertonia
Increased reflexes
Upgoing plantars
25
LMN signs
Fasciculations
Hypotonia
Reduced reflexes
Downgoing planters
Wasting
26
Findings in polio
Dramatic weakness
Wasting
Limb shortening
Pes cavus
27
Causes of combined UMN and LMN features
MND
Cervical myeloradiculopathy (motor, often sensory or sphincter involvement too)
Disease affecting the central and peripheral nervous system e.g friederich's ataxia, Vit B12 deficiency (SCDC plus peripheral neuropathy)
28
Symptoms in Guillain-Barre
Ascending polysensory-motor neuropathy - usually ascending
Loss of reflexes
Hypotonia
Flaccid weakness
Autonomic dysfucntion
Fasciculations may occur
Dysphagia and respiratory dysfucntion if severe
29
Mx of GBS
Monitoring of FVC
If FVC <1.5L - ABG and discuss with ICU ?ventilation
Plasma exchange or IVIG
30
MX of CIDP
Neuropathic nerve agents
Plasma exchange or IVIG
Steroids/immunosuppression
31
Differential diagnosis in spastic paraparesis
Acute:
- Intervertebral disc herniation
- Spinal stroke - will have hypotonia (spinal shock)
Subacute:
- MS - transverse myelitis
- Discitis
- HIV
- HTLV1
- SLE
Chronic:
- Tumour
- Progressive spondylithiasis
- Vitamin B12 deficiency
Since young age:
-Neurodegenerative conditions e.g Primary lateral sclerosis or Hereditary spastic paresis
32
Signs in spastic paraparesis
Reduced power
Increased tone
Upgoing plantars
Brisk reflexes
Sensory changes (may have a level)
33
Ix in spastic paraparesis
Copper
B12
MRI spinal cord
Genetic testing if hereditary causes suspected
34
Symptoms of Parkinsonism
Tremor
Bradykinesia
Rigidity
Postural instability
35
Causes of Parkinsonism
Idiopathic Parkinsons disease
Progressive supranuclear palsy
- Vertical gaze palsies
Multisystem atrophy
- Cerebellar signs
- Early postural hypotension
Corticobasal degeneration:
- Unilateral Parkinsonism signs
Lewy-Body disease
- Preceding visual hallucination, personality change or memory loss
Vascular Parkinsonism
- Predominantly lower limbs
- Gait failure
- Usually bilateral
Drug induced - prochlorperazine, metoclopramide and antipsychotics
Post-encephalitis
36
Non motor manifestation of Parkinsons disease
Anosmia
Disordered REM sleep
Constipation
Depression
Postural hypotension
Memory issues
37
Medical therapies in idiopathic PD
Levodopa
Dopamine receptor agonists
Anticholinergics
COMT inhibitors
MOA inhibitors
Duodopa
Apomorphine
Amnatidine
Deep brain stimulation
38
Medication side effects in PD
Dopamine receptor agonists - impulsivity
Levodopa - on/off phenomena, dose related dyskinesia, nausea
39
Management PD
Education
PT/OT
SLT
Dietician
Neuropsychologist
40
Bamford classification of stroke
TACS:
- Hemiplegia
- Homonymous hemianopia
- Higher cortical dysfunction e.g. dysphagia, dyspraxia or neglect
PACS:
- 2/3 of the above
Lacunar:
- Isolated hemisensory/motor dysfunction
41
Ix in acute stroke
Bloods:
- FBC
- CRP/ESR
- Glucose
- LFTs and U&Es
- HBa1c
- Lipid profile
CXR - concerns re aspiration
CT head - to exclude haemorrhage
CTA - identify thrombus
MRI brain perfusion
Ambulatory ECG monitoring
Carotid dopplers
Echocardiogram
42
Mx in acute stroke
CT head - exclude haemorrhage
If ischaemic and presentation <4.5hrs and significant NIHSS score - consider for thrombolysis if no contraindications
If clot identified suitable for thrombectomy and <6hrs from start of symptoms discuss with vascular, can sometimes accept up to <24hrs
If no above therapies aspirin 300mg for two weeks
Refer to stroke unit - PT, OT, SLT, stroke rehab nurses
IPC as DVT prophylaxis
43
Mx in the chronic phase of stroke
Stroke rehab +/- social care
Endarcterectomy if stenosis on ipsilateral side of lesion >70% - consider if >50%
Anticoagulation if AF present
1 month driving ban
Address cardiovascular factors
44
Features in Lateral Medullary (Wallenberg) syndrome
Due to occlusion of PICA (posterior inferior cerebellar artery)
Ipsilateral Horner's with acute vertigo/vomiting
Contralteral loss of pain and temperature below neck
45
Red flags in headache history
Sudden onset - e.g. thunderclap
Pyrexia
Confusion
Meningism
Headache worse in morning
Continued nausea/vomiting, visual disturbance
46
Tx in migraine
Simple analgesia with antiemetic e.g. ibuprofen, naproxen
Avoidance of opioids
Triptans in acute phase
Long term:
- Avoidance of triggers
- Healthy lifestyle, good sleep hygiene
- Propranolol and topiramate
47
Red flags in headache exam
Papilloedema
VIth nerve palsy
Visual field defect
Meningism
UMN signs in limbs
Limb ataxia, nystagmus
48
Differentials in choreiform movements
Inflammatory:
- Sydenham chorea - Group A strep
- SLE chorea
Acute:
- Hypoglycaemia
- Vascular (usually unilateral) e.g. lesion in sub thalamic nucleus causing hemiballismus
Genetic:
- Huntingdonn's disease
49
Ix in involuntary movements
Blood glucose
CT/MRI head
ANA, dsDNA, APLS
genetic screen
50
Mx in Huntingdons
MDT approach
Neurology
Neuropsychiatrist
Neuropsychologist
Dieticians
OT/PT
Screening in 1st degree relatives
51
Ix in myasthenia gravis
ACHEi abs - positive in 85%
MUSK abs - positive in 15%
Single fibre EMG with repetitive testing - decremental effect on action potentials
CT chest - thymoma
TFTs - Graves present in 15%
TPMT if needing immunosuppression with azathioprine
52
Mx in myasthenia gravis
In myasthenia crises:
- IV steroids
- IVIG or plasma exchange
- Discuss with ICU with regular FVC monitoring
In subacute presentation:
- Pyridostigmine
- PO steroids
- Immunosuppression e.g azathioprine or MMF
53
Clinical signs in myasthenia gravis
Bilateral ptosis - worse on sustained upward gaze
Comple ophthalmoplegia
Myasthenia snarl
Nasal speech
Proximal muscle weakness - especially with fatiguability
Sternotomy scars (thymectomy)
54
Clinical findings in Friedrich's ataxia
Young adult with ataxic gait
Pes cavus
Bilateral cerebellar signs
Combined UMN and LMN signs
Posterior column signs - loss of vibration and proprioception
55
Differentials in friederich's ataxia
Vitamins B12 and E deficiency
Spinal cord stenosis
56
IX in Friederich's ataxia
Vitamin B12 and E
MRI brain and spinal cord
Nerve conduction studies and EMG
Genetic testing
57
Mx in Friederich's ataxia
Mortality associated with cardiac abnormalities - requires reg ECG and ECHOs
- May need implantable devices
MDT - OT, PT, Orthotics, SLT
Diabetes - 10% develop diabetes
Genetics counselling
58
Genetics in Friderich's ataxia
Autosomal recessive trinucelotide repeat disorder in the Frataxin gene
59
Associated conditions with Friederich's ataxia
Kyphoscoliosis
Optic atrophy
High arched palate
Sensorineural deafness
HOCM or cardiac conduction abnormalities
Diabetes
60
Anything to be concerned about when starting MG patients on steroids?
Paradoxical dip in symptoms when starting steroids in MG
Steroids should be titrated up, and if there are significant symptoms e.g. bulbar or swallowing issues should be admitted when starting steroids
61
Types of muscular dystrophies
Becker's musculodystrophy
Duchenne's musculodystrophy
Fascioscapular-humeral musculodystrophy
Limb girdle muscle dystrophy
Peroneal musculodystrophy
Myotonic dystrophy
Ocular-pharyngeal dystrophy
Other conditions which may cause muscle weakness:
- Spinobulbar muscle atrophy
- Progressive muscle atrophy
62
Ix in musculodystrophy
CK
MRI
Genetics
EMG
Muscle biopsy often not needed with genetic testing
63
Clinical signs in myotonic dystrophy
Myopathic facies - long, thin and expressionless
Wasting of facial muscle and sternocleidomastoid
Bilateral ptosis
Frontal balding
Dysarthria
Myotonia - difficulty relaxing
Wasting and weakness of distal muscles in hands
Percussion myotonia - thumb flexion on percussion of thenar eminence
64
Associated conditions with myotonic dystrophy
Diabetes
Cardiomyopathy
Bardy and tachyarrhythmias
Testicular atrophy
Cataracts
65
Genetics in myotonic dystrophy
Either DM1 or DM2 (rarer)
Both autosomal dominant
Trinucleotide repeat disorders which exhibit genetic anticipation
66
Management of Myotonic dystrophy
Affected individuals succumb usually to cardiac or respiratory complications
Mexilitene or phenytoin can help myotonia
Advise against general anaesthetic
MDT - PT, OT, SLT, dietician, DSN, orthotics
67
Clinical significance of fasciculations
Without weakness = can be benign
If weak as well, then caused by LMN, however in general if widespread MND (sometimes syringomelia) while focal fasciculations = radiculopathy
68
tone, reflexes and planters on examination in UMN, LMN and neuromuscular lesion
UMN: All up
LMN: All down
Neuromuscular: all normal
69
Causes of polyneuropathy
Signs are LMN, bilateral with sensation changes in glove and stocking pattern
Hours to days:
- GBS
- Porphyria
- Diabetic amyotrophy
- Lead poisoning
Months to years:
- Paraprotein - 60% IgM
- Paraneoplastic - anti-Hu or anti-CV2
- Infection - HIV, lyme, leprosy
- Immune - CIDP
- Metabolic - DM, renal failure, B1, B6 or B12 deficiency, alcohol
Years to decades;
- HMSN
70
Causes of myopathy
Normal tone and reflexes, non-fatiguable
Usually proximal, no sensory changes
Toxins: statin, drugs, alcohol
Metabolic: osteomalacia, hypo/hyperthyroid
Infections: HIV, hep B and C, influenza, enterovirus
Inflammatory: polymyositis, dermatomyositis, inclusion body myositis
Inherited: Duchenne/Becker musculodystrophy, FSH, limb girdle, myotonic dystrophy
71
What is Brown-Sequard syndrome
Hemicord transection
Ipsilateral power and joint position/vibration (from corticospinal and dorsal column damage) and contralateral pinprick loss (spinothalamic damage)
72
What is mononeuritis multiplex and what are the causes?
Asymmetrical LMN sensory nd motor features due to randomly affected nerves
Causes:
- Diabetes mellitus
- SLE
- RA
- Vasculitis - polyaerteritis nodosa and EGPA
- Infection - HIV
73
Combined UMN and LMN fatures indicate
Only motor features - MND
Mixed motor and sensory:
- Cervical radiculopathy (often sphincter disturbance as well
- Disease affected the central and peripheral nervous systems e.g. Friederich's ataxia and B12 deficiency
74
Genetics of myotonic dystrophy
Usually autosomal dominant with defects in the DM1(more common and severe symptoms) and DM2 genes
Trinucleotide and tetra nucleotide repeats respectively which demonstrate anticipation
75
Associated conditions with myotonic dystrophy
Diabetes
Testicular atrophy
Cardiomyopathy - brady and tachy arrhythmias (may have pacemakers)
Cataracts
Dysphagia
76
Clinical signs in myotonic dystrophy
Myopathic facies - long, thin and expressionless
Wasting of facial muscles and sternocleidomastoid
Bilertal ptosis
Frontal balding
Dysarthria
Myotonia
Wasting and weakness of distal muscles - especially finger flexors
Percussion myotonia
77
Causes of ptosis
Bilateral:
- Myasthenia gravis
- Myontic dystrophy
- Congenital
- Ocular-pharyngel dystrophy
- Mitochondrial - CPEO
Unilateral:
- Horner's syndrome
- CN III palsy - pupil enlarged (surgical) or normal (medical)
78
Causes of Cerebellar syndrome
Paraneoplastic
Alcohol - Wernicke's and Korsakoffs
Sclerosis - MS
Tumour
Recessive (Friedrich or AT) or dominant (spinocerebellar ataxia)
Iatrogenic - phenytoin toxicity
Endocrine - hypothyroidism
Stroke - cerebellar or brainstem event
79
Clinical signs in MS
UMN limb or CN signs
Cerebellar signs
Spastic paraplegia
Internuclear ophthalmoplegia - ipsilateral eye unable to adduct and contralateral eye has nystagmus, often bilateral in MS
80
Criteria used to diagnose MS
McDonald criteria diagnoses after single attacks using preclinical tests - dissemination in time and place
81
Types of MS
Relapsing remitting
Primary progressive
Secondary progressive
82
Treatment in MS
MDT approach:
- MS-specialist nurse, PT, OT, SLT, dietician, podiatrist
- Neurology led specialist clinic
MS specific treatment:
- Interferon
- Fingolamid
- Natalizumab
Symptomatic treatment:
- Baclofen fro spasticity
- ISC or oxybutynin for urinary symptoms
- Laxatives
- Neuropathic pain - SNRI and gabapentin
In flare:
- IV steroids reduce duration of flare and not overall outcome
83
Classification of strokes
Bamford classification:
- TACS -all three of Hemiplegia, homonymous hemianopia and higher cortical dysfunction (dysphasia, dyspraxia or neglect)
- PACS - 2/3 of the above
- Lacunar - isolated hemi-sensory/motor loss
84
Investigation in strokes
Swallow test
Urgent CT head (non-contrast)
Bloods:
- FBC
- U&Es and LFTs
- Hba1c
- Lipid profile
ECG
72 hour tape
CTA
Carotid dopplers
MRI head
If young: clotting screen, thombophilia screen and vasculitis screen
85
Components of lateral medullary syndrome
Ipsilateral horners syndrome with vertigo/vomiting
Due to occlusion of PICA
86
Causes of bilateral lower limb spasticity
MS
Spinal lesion:
- Disc prolapse
- Trauma
- myelopathy
MND (no sensory signs
Rarer causes:
- Anterior spinal artery stroke
- Inflammation: NMO, SLE, sjogren's
- Syringomyelia
- hereditary spastic paraplegia
- B12 deficiency
- Friederich's ataxia
87
What is syringomyelia?
Slow expanding fluid filled syrinx within the cervical spine, usually expanding ventrally affecting the spinothalamic tract, anterior horn cells and corticospinal tract
Usually spares proprioception and vibration
Frequently associated with an Arnold-Chiari malformation and spina bifida
88
Clinical signs in syringomelia
Weakness and wasting of small muscle sin the hand
Loss of reflexes in the upper limbs
Sensory loss in upper limbs and chest, loss of pain and temperature sensation and preservation of proprioception
Scars from painless burns
Charcot joints at the elbow and shoulder
Additional signs:
- Pyramidal weakness in lower limbs with upping planters
- Kyphoscoliosis
- Horner's syndrome
- If extends from brainstem may be cerebellar and lower cranial nerve signs
89
Types of MND
Amyotrophic Lateral sclerosis - both UMN and LMN signs
Primary lateral sclerosis - only UMN signs
Progressive spinal muscular atrophy - Only LMN in limbs
Progressive bulbar palsy - Only LMN signs in brainstem
90
Symptoms in Parkinsonism
Tremor
Rigidity
Akinesia/bradykinesia
Postural instability
91
Causes of Parkinsonism
Parkinson's disease - asymmetrical
Parkinson's disease plus syndrome:
- Progressive supra nuclear palsy - symmetrical
- Multisystem atrophy - symmetrical
- Corticobasal degeneration - asymmetrical
- Lewy-body dementia
Vascular Parkinsonism
Drug-induced Parkinsonism - metoclopramide, prochlorperazine, antipsychotics
Post-encephalitis
92
Treatments in Parkinson's disease
Levodopa - dopamine with peripheral decarboxylase inhibitor
MAOi
COMT
Dopamine receptor agonists:
- increase impulsivity
Duodopa
Apomorphine
Deep brain stimulation
93
What is Hereditary motor sensory neuropathy
Genetic conditions affeting both motor and sensory nerves, most commonly autosomal dominant type 1a affecting PMP22 gene
94
Clinical signs in HMSN
Waisting of distal lower limb muscles with preservation of thigh muscle bulk and hand muscle
Pes cavus
Weakness of distal muscles
Distal (glove and stocking) sensory loss
High stepping gait
Palpable lateral popliteal nerve
95
What is Friedrich's ataxia
Autosomal recessive genetic disorder characterised by UMN and LMN signs with ataxia. Affects the frataxin gene and exhibits genetic anticipation
96
Signs in Friedrich's ataxia
UMN and LMNN signs
Reduced or absent reflexes
Upgoing planters
Pes cavus
Ataxia
Bilateral cerebellar signs
Loss of vibration and joint position sense
97
Associated conditions with Friedrichs ataxia
HOCM
Diabetes
Dementia
Optic atrophy
Kyphoscoliosis
Sensorineural deafness
98
Causes of facial weakness in:
- Hemisphere
- Pons
- Cerebellar-pontine angle
- Remaining course of facial nerve
Hemisphere - UMN signs - often UMN signs in limbs:
- Stroke
- MS
- Tumour
Pons- UMN signs usually ipsilateral UMN in limbs and ipsilateral CN VI palsy:
- Stroke
- MS
- Tumour
Cerebellar-pontine angle - LMN signs - +/- V, VI and VIII signs;
- Tumour e.g. acoustic neuroma
Remaining course - LMN - +/- swelling in face, shingles in EAC:
- Cholesteatoma
- Ramsay-hunt syndrome
- Bell's Palsy
99
How to distinguish UMN and LMN VIIth nerve palsy
Forehead sparing in UMN
Paralysis of forehead and eye closure with LMN
100
What is Bell's Palsy
LMN condition affecting CN VII, most commonly caused by HSV
Treatment:
- High dose steroids if symptoms within 72 hours
- Aciclovir if symptoms severe
- Lubricants for eyes
- Tape eye closed at night
- 70-80% make full recovery
101
Causes of bilateral LMN facial weakness
GBS
Lyme
Sarcoidosis
Myasthenia gravis
Syphilis
102
Investigations in Myasthenia Gravis
Bedside - FVC measurement
Bloods:
- FBC
- U&Es and LFTs
- TFTs - 10% have autoimmune thyroid disease (Graves)
- Anti-Acetylcholine receptor antibodies
- Anti-MuSK
CXR - mediastinal mass (thymoma
CT thorax
EMG - decrement of compound muscle action potential amplitude with repetitive stimulation
103
Treatment of myasthenia gravis
Crisis:
- Measurement of FVC
- IV methylpred
- IVIG
- Plasma exchange
- Early involvement of ICU - especially if FVC <20ml/kg, unable to count to 15 in one breath, unable to lift head off the pillow
Long-term management:
- MDT - neurological specialist, OT, PT, SLT, dietician
- Prednisolone - start at low doses as OP (may have paradoxical increase in weakness
- Steroid sparing agents - MMF and azathioprine
- Thymectomy
104
Genetic cause of tuberous sclerosis
Autosomal dominant condition with variable penetrance affecting TSC1 and TSC2
105
Clinical signs in tuberous sclerosis
Facial:
- Pernasal adenoma sebaceous
- Periungal fibromas - hands and feet
- Shangreen patch - roughened skin in lumbar back
- Ash leaf macules - depigmented macules (fluoresce with UV/Wood's light)
Respiratory:
- Cystic lung disease
Renal:
- Renal enlargement caused by polycystic kidneys and/or renal angiomyolipomata
- Renal transplant
- Signs of renal replacement
Eyes:
- retinal phakomas - dense white patches
CNS:
- Learning difficulties
- Seizures
106
Associated conditions with tuberous sclerosis
Learning difficulties
Seizures
Renal angiomyolipomas
RCC
Renal cysts
Renal failure
107
Genetic basis of neurofibromatosis
Either caused by defects in the NF1 or NF2 gene
NF1: Classical NF with peripheral signs
NF2: Affects CNS with bilateral acoustic neuromas and sensory-neural deafness
108
Clinical signs in neurofibromatosis
Cutaenous neurofibromas
Cafe-au-lait patches, six or more, >15mm in adults
Axillary freckling
Lisch ndoules
Hypertension
Lung fibrosis
Neuropathy with enlarged nerves
Reduced visual acuity - optic glioma/compression
109
Associated conditions with neurofibromatosis
Phaechromocytoma
Renal artery stenosis
Epilepsy
Scoliosis
Learning difficulties
110
Causes of enlarged nerves and peripheral neuropathy
Neurofibromatosis
HMSN - typa 1a
Leprosy
Amyloidosis
Acromegaly
Refsum's disease
111
Causes of Horner's syndrome
MS
Stroke
Syringomyelia
Pancoast tumour
Trauma
Aneurysm
112
Causes of third nerve palsy
Medical causes (normal response to light):
- MS
- Stroke - Midbrain infarction (Weber's)
- Mononeuritis multiplex (diabetes)
- Migraine
Surgical causes:
- Communicating artery aneurysm (posterior)
- Cavernous sinus pathology - thrombosis, tumour or fistula
- Cerebral unus herniation
113
Causes of RAPD
MS
Glaucoma
Retinitis pigments
Central artery occlusion
Sarcoid
SLE
GCA
114
Causes of Pale optic discs
Pressure: Tumour, glaucoma, Pagets
Ataxia: Friedrich's ataxia
LEber's
Dietary: Low B12
Degernation: retinitis pigments
Ischaemia: Central artery occlusion
Syphilis and other infections e.g CMV and toxoplasmosis
Cyanide and other toxins e.g. alcohol, lead and tobacco
Sclerosis: MS
115
Causes of retinitis pigmentosa
Congenital - often autosomal recessive disorders:
- Friederich's ataxia
- Abetalipoproteinaemia -vitamin E supplementation
- Refsum's disease - hearing impairment, cardiac issues, anosmia, scaly skin
- Kearns-Sayres disease - cerebellar ataxia, ophthalmoplegia, cardiac disease
- Usher's disease - deafness
116
Clinical signs of retinal artery occlusion
Acute:
- Pale milky fungus
- Cherry red macula - choirodal blood supply
Chronic - retinal and optic atrophy, with field defect opposite to the quadrant of affected retina
117
Causes of retinal artery occlusion
Embolic - carotid plaque rupture or cardiac mural thrombus - treated with aspirin, anti-coagulation and endarterectomy
GCA - high dose steroids and arrange temporal artery biopsy
118
Signs in retinal vein occlusion
Flame haemorrhage
Engorged tortuous veins
Cotton wool spots
May have diabetic or hypertensive changes
Rubeosis irises causes secondary glaucoma
Will cause visual loss and field defects
119
Causes of retinal vein occlusion
Hypertension
Hyperglycaemia - diabetes
Hyperviscosity - Waldenstrom's
High intraocular pressure: Glaucoma
120
Treatment in Refsum's disease
Low Phytanic acid diet (found in dairy products, beef, lamb and some seafoods) and high in calories
Plasmaphoresis
121
Tests in patients with young strokes (age under 55)
Vasculitis screen
Thrombophilia screen
- APLS
- Acquired Thrombophilia
Bubble ECHO
122
Antibodies in paraneoplastic cerebellar syndrome
Anti-Hu, Yo and Ri
123
What is Miller-Fisher
Variant of GBS, commonly following an infection, classically campylobacter
Associated with:
- Ophthalmoplegia
- Ataxia
- Loss of reflexes
Usually anti-ganglioside antibodies positive
Treated with IVIG and plasma exchange
