Neurology Flashcards
How to examine facial nerve?
Open and close eyes against resistance
Puff out cheeks and whistle
Smile and show teeth
Frown
Offer to check BP Ears for infection Any rashes ?erythema migrans Assess hearing - acoustic neuroma Any exposure keratitis
How do lower motor facial nerve palsies present?
Ipsilateral upper and lower face
How do upper motor facial nerve palsies present?
Contralateral lower face affected
What causes a lower motor neurone facial nerve palsy?
Bell’s palsy Chronic serous otitis media Viral infections: EBV, mumps Ramsay Hunt syndrome: herpes zoster vesicles in ear canal Lyme disease GBS - bilateral Trauma Tumours/leukaemia
What causes upper motor neurone facial nerve palsy?
CP
Tumours
Moebius syndrome - strabismus and immobile face
How is facial nerve palsy managed?
BP
Test for Lyme disease, varicella and leukaemia
Eye care - tape shut at night and use artificial tears
Steroids if <7 days
Should have some recovery by 3 weeks, MRI head if not recovered in 3 months
What is pseudo-bulbar palsy?
Bilateral supranuclear upper motor neurone lesions of CN IX-XII
Poor tongue and pharynx movement
Associated with spastic quadriplegic CP
Stiff, spastic tongue
Dry voice and dysarthria
Preserved gag reflexes
Exaggerated jaw jerk
How does a third nerve palsy present?
Ptosis
Downwards and lateral gaze
Pupil dilation - no reaction to light or accommodation
How does 4th nerve palsy present?
Upward deviation of eye
Head tilt to unaffected side
Unable to look out or down
How does 6th nerve palsy present?
Unable to abduct eye
Convergent paralytic squint
How does Horner syndrome present?
Partial ptosis
Pupil constriction - normal light reflexes as controlled by parasympathetic nerves
Anhydrosis
Enopthalmous
What causes Horner’a syndrome?
Can be congenital - associated with heterochromia
Central - causes anhidrosis of face, arm and trunk
- brain tumour
- MS
- encephalitis
Preganglionic - facial anhidrosis
- Klumpkes paralysis
Postganglionic - no anhidrosis
- cluster headache
- carotid artery’s dissection
- cavernous sinus thrombosis
- otitis media
How is power graded?
0: no contraction
1: flicker or trace of contraction
2: active movement with gravity eliminated
3: active movement against gravity
4: active movement against gravity and resistance
5: normal power
What is the nerve innervation of the arm reflexes?
Biceps - C5/6
Supinator - C5/6
Triceps - C6/7
What is the innervation of the leg reflexes?
Knee - L3/4
Ankle - S1
Plantar - S1
What causes neuromuscular disease?
Anterior horn cells
- SMA
- Poliomyelitis
Nerve fibre
- Charcot Marie Tooth
- GBS
- leukodystrophy
- poison
Neuromuscular junction
- myasthenia gravis
Muscle
- Duchenne/Becker/Facioscapulohumeral/limb girdle dystrophy
- myotonic dystrophy
- inflammatory: polymyositis, dermatomyositis
- metabolic: glycogen storage disease
- thyroid
- steroids
How does SMA type 3 present?
5-15yrs with waddling gait Proximal muscle weakness Difficultly climbing stairs Gower’s positive Reduced tone/power/reflexes Tongue fasciculations
How does Charcot-Marie-Tooth present?
Damage to peritoneal and tibial nerves Foot drop Distal wasting Pes caves Sensory involvement - proprioception and vibration
Treat with ankle orthoses
How does Duchenne present?
X-linked recessive - can be familial link but 1/3 are new mutation
Delayed walking, waddling gait, tip toe walking, falls and difficulty with stairs
Calf hypertrophy
Reduced reflexes except ankle reflexes
Associated with cognitive impairment
How is Duchenne managed?
Genetics to confirm + genetic counselling for family
Resp - NIV
Cardiology - LVF and arrhythmia
Ortho - scoliosis
Gait - walking frame and then wheelchair
Neuro - cognitive impairment and speech delay
Steroids
PT/OT
How does Becker present?
Less cardiac/resp involvement and present later
How does facioscapulohumeral dystrophy present?
Facial and shoulder girdle muscle weakness
Face is expressionless
Winging of the scapula
How does limb girdle muscular dystrophy present?
Onset in late childhood
Begins with shoulder weakness, progresses to hips and then distally
Toe walking, waddling gait and then requires wheelchair
How does Guillain Barre Syndrome present?
10-14 days post viral illness
ASCENDING flaccid paralysis
MOTOR > sensory
Reduced power/reflexes/tone - plantar reflexes —> flexion
Involvement of cranial nerves - ptosis and facial nerve palsy (bilateral)
How is Guillain Barre Syndrome diagnosed?
MRI brain and spine - normal
LP - high protein
Nerve conduction studies - abnormal
How is Guillain Barre treated?
Monitor with daily spirometry - may require ventilation
Can have CV autonomic involvement
IVIG/plasma exchange
PT and rehab
Causes of a floppy infant?
Central
- encephalopathy
- CP
- IVH
- neurometabolic
Spinal cord
- spina bifida
- cord transection
- tumour/haematoma
Anterior horn cell
- SMA/polio
Nerve fibre
- GBS
Neuromuscular
- transient myasthenia gravis, congenital myasthenia
Muscle
- congenital myopathy
- congenital myotonic dystrophy
- congenital musclar dystrophy
- Pompes
Other
- Downs/Prader Willi
- hypothyroid/hypercalcaemia
How does SMA 1/2 present?
Present within first year
Normal face
Frog like posture
Bell shaped chest - see saw respiration
Reduced tone/power/reflexes
Fasciculations
Never sit - die of resp failure 12-18 months
Never stand - may require NIV
How does congenital myotonic dystrophy present?
Reduced fetal movements Floppy infant Facial diplegia with triangular fancies Resp problems Associated with talipes and hip problems High mortality
How does myotonic dystrophy present in the older infant?
Myotonic, expressionless, immobile face Hypotonia Poor muscle bulk Weakness Normal/reduced reflexes
AVOID GENERAL ANAESTHETIC
What causes ataxia?
Acute
- infectious: chickenpox, measles, mycoplasma
- structural: tumour, hydrocephalus
- drugs: phenytoin
- metabolic
- vascular: basilar artery thrombosis
Intermittent
- migraine
- epilepsy
Chronic
- perinatal e.g. encephalopathy
- cerebellar: Dandy Walker
- spinocerebellar degeneration: Friedrichs ataxia
- ataxia telangectasia
- metabolic: leukodystrophy, Wilson’s, abetalipoproteinaemia
How does Friedrichs ataxia present?
Progressive, presents before 15th birthday Ataxia and dysarthria Lower limb weakness, absent reflexes Up going planters Pes cactus Nystagmus Romberg positive
Cardiac: hypertrophic cardiomyopathy
How does ataxia telangiectasia present?
Cerebellar ataxia
Telangiectasia of conjunctiva and behind ears
Malignancy
Low IgA and IgG
What is spina bifida associated with?
Associated with hydrocephalus - regular head circumference and imaging if indicated Learning difficulties Scoliosis Urine and faecal incontinence Foot ulcers
What clinical features are seen in NF1?
Visual fields, lisch nodules, ptosis and pro ptosis Macrocephaly Scoliosis Irregularly shaped, brown macules Axillary freckling Blood pressure
How is NF1 diagnosed?
2 of:
First degree relative Axillary/inguinal freckling Gliomas - brain or optic Lisch nodules >1 Osseous lesions - kyphoscoliosis, tibial bowing, sphenoid dysplasia Neurofibromas >6 cafe au lait >5mm / >15mm
What is the prognosis of NF1?
Learning disabilities
Monitor tumours as can become malignant
Risk of developing phaeochromocytoma, Wilms, thyroid cancer
How is NF2 diagnosed?
Bilateral acoustic neuromas
1st degree relative Unilateral acoustic neuroma Schwannoma Neurofibromas Meningitis Glioma
Which professionals are involved in NF?
Paediatrician - monitor growth, BP, scoliosis
Paeds surgeons - excision of neurofibromas
Ortho - scoliosis
ENT and audiologist - acoustic neuromas
Plastic surgeons
Ophthalmologist
SLT
Geneticist
Psychology
How does tuberous sclerosis present?
Skin
- ash leaf lesions (need Woods lamp)
- adenoma sebaceous (warty lesions along nasal folds)
- periungal fibromas
- shagreen patches
- cafe au lait
Teeth
- teeth pits
Eyes
- hamartomas
GI
- rectal polyps
CNS
- Astrocytomas
- tubers
- subependymal nodules
Kidney
- PCK
- lipomas
Cardiac
- rhabdomyoma
Resp
- interstitial lung disease
How is tuberous sclerosis investigated?
BP
Renal ultrasounds
Echocardiogram
ECG
EEG and MRI head
How does Sturge Weber present?
Facial naevus
Can have glaucoma
CNS involvement - intracranial calcification, ipsilateral angiomas, contralateral hemiparesis, LD and GDD
What is incontinentia pigmenti ?
Girls Hyperpigmented, whirled lesions across body Seizures, LD, spasticity Ocular Peg shaped teeth
How does hypomelanosis of Ito present?
Whirled, hypopigmentation
Seizures, LD, hemiplegia
What is posterior fossa syndrome?
Secondary to medulloblastoma treatment
Cerebellar mutism
Hemiparesis
Mutism
Supranuclear cranial nerve palsy
