Neurology exam Flashcards
Anti-epileptic levels
Important: phenytoin, phenobarbitone
Useful: carbamazepine
Not useful: valproate, lamotrigine
Ataxia Telangiectasia
genetics: AR chromosome 11
clinical:
- onset early childhood
- telangiectasia of bulbar conjunctiva/behind ears
- cerebellar ataxia
- increased malignancy (lymphoreticular)
- increased infection (low IgA/IgG)
Ataxic cerebral palsy
clinical:
- broad based gait
- increased tone and reflexes in LL
- nystagmus
- intention tremor with past pointing
- Romberg’s negative
Athetoid cerebral palsy
defect: extrapyramidal system or basal ganglia
clinical:
- increased tone
- abnormal posturing
- involuntary movements
causes:
- HIE
- kernicterus
Abnormal movements
athetosis (twisting and writhing movements)
- usually in combination with CP
cause: injury to basal ganglia corpus striatum
choreoathetosis (athetosis + chorea: migrating contrations)
cause: hyperbilirubinaemia, neonatal encephalopathy
Athetosis
definition: slow writhing movement of the limbs
Cataracts
causes:
- metabolic: galactosaemia
- Wilson’s
- hypoparathyroidism
- diabetes
- dystrophica myotonica
- intrauterine infection
- steroids
Causes of ataxia
Cerebral Palsy
-other issues-
drooling: oromotor dysfunction
- glycopyrrolate, BTX, surgery
gastrostomy: FTT, aspiration
hip: subluxation, dislocation, degeneration
- AP XR from 18 months every year
osteopaenia: treatment bisphosphonate
urinary incontinence:
- detrusor overactivity: anticholinergic
- neurogenic bladder: schedule, catherisation
Charcot Marie Tooth disease
genetics: AD
clinical:
- peroneal and tibial damage
- pes cavus
- weakness and wasting distal LL
- weakness foot dorsiflexion (foot drop)
- absent knee and ankle jerks
- downgoing plantars
Cherry red spot
etiology: macula appears red as only area of retina that does not build up storage material
causes:
- Tay Sachs’ disease
- Niemann-Pick’s disease
- GM1 gangliosidosis
- Sandhoff’s disease
- Mucolipidosis
Chorea
definition: rapid irregular repetitive jerking, either generalised or affecting one part of the body
CN eye palsies
CN III: DOWN/OUT
- ptosis
- pupillary dilatation
- non-reactive to light
- no accommodation
- diplopia
CN IV: UP/IN
- head tilts towards unaffected eye
- diplopia
CN VI: failure of abduction
- diplopia
CN III palsy
causes:
congenital (most common)
- chromosomal abnormalities
- CP
acquired
- tumours
- infection
- head injury
CN IV palsy
causes:
- raised ICP as long intracranial course
CN IX, X, XII palsy
all leave via jugular foramen and are affected by lesions at the base of the skull eg. Arnold-Chiari malformation
CN V palsy
causes:
- brainstem gliomas
- infarction, AVM
- acoustic neuromas
- chronic suppurative OM
- cavernous sinus thrombosis
CN VI palsy
RARELY congenital
acquired
- raised ICP
- AVM
- meningitis
CN VII palsy
UMN lesions:
- weakness of lower part of face on opposite side of weakness
UMN causes:
- CP
- tumours
- Moebius syndrome: strabismus and immobile face as CN VI and VII most affected
LMN lesions:
- weakness of whole side of face on same side
LMN causes:
- Bell’s palsy: mostly idiopathic/unilateral
- Ramsay-Hunt syndrome: herpes zonster on posterior wall of ear canal
- chronic serous OM
- intracranial tumours
- infection: mumps, EBV, lyme disease
- GBS
- congenital
- birth trauma
- skull fracture
investigations
- exclude HTN
- serology: Lyme, varicella, leukaemia
treatment
- eye care
- treat with steroids if <7 days
- oral aciclovir
prognosis
- usually recover in <4 weeks
Coloboma
causes:
- familial (AD)
- WAGR association
- CHARGE association
- Goldenhar syndrome
Congenital ataxias
clinical: motor incoordination
IEM:
- urea cycle disorders, aminoacidurias, disorders pyruvate/lactate metabolism
- Refusum disease
not IEM:
- AR: frederich ataxia, ataxia-telangiectasia, xeroderma pigmentosa
- XL: XL sideroblastic anaemia with ataxia, adenoleukodystrophy
- mitochondrial disorders: Leigh syndrome, Kearns-Sayre syndrome, MELAS
- vitamin E deficiency
- Wilson’s disease
Congenital Myotonic Dystrophy
genetics: AD usually from mother
clinical:
- floppy from birth
- facial diplegia with triangular facies
- respiratory issues
- talipes/hip problems
mortality:
- 75% in one year
investigations:
- EMG
Corneal clouding
causes
- GM1 gangliosidosis
- Fucosidosis
- MPS
- Mucolipidosis
CP causes
“SSSSSHHHII” t
Prenatal
Syndrome/genetic
Structural: cerebral malformation
Some TORCH infections
Small: prematurity
Substance use in pregnancy
Perinatal “3 H’s”
HIE
Haemorrhage (IVH)
Hypoglycaemia
Postnatal “2 I’s”
Infection: encephalitis, meningitis
Ischaemic stroke/Injury
CP
investigations
MRI brain
MRI spinal cord (if spinal lesion suspected)
Chromosome analysis
EEG
Congenital infection screen
Metabolic screen
Opthalmology assessment
Hearing tests
CVA
Floppy infant
DMD
genetics: XLR 1/3500 males
clinical:
- onset 3-5 years
- waddling gait
- calf hypertrophy
- decreased reflexes
- gower’s sign
- scoliosis 80%
- lose ability to walk 7-12 years
investigations
- elevated CK
- EMG
- muscle biopsy
- DNA studies
Drooling
(sialorrhoea)
MEDICATIONS
anticholinergics
- benzhexol
- glycopyrolate
botox injections
Duane syndrome
etiology: congenital abnormality causing simultaneous contraction of the medial and lateral recti on attempted adduction of the affected eye
clinical:
- exotropia OR
- esotropia
- failure to abduct of adduct affect eye
Dystonia
definition: abnormal posturing of the limbs, trunk and face
- can occur in association with choreoathetosis
causes: CP, drugs, Wilson’s
Facioscapulohumeral muscular dystrophy
genetics: AD deletion
clinical:
- facial and shoulder girdle
- expressionless face
- winging scapula
- shoulder muscle weakness
Frederich’s Ataxia
genetics: AR chromosome 9
etiology: progressive pyradimal tract dysfunction
clinical:
- onset childhood
- ataxia and dysarthria
- nystagmus
- Rombergs positive
- loss of joint position/vibration
- absent tendon reflexes
- kyphoscoliosis
- HCM
- DM
Guillain-Barre Syndrome
etiology: acute inflammatory demyelinating polyneuropathy 10-14 days after viral illness
clinical:
- ascending symmetrical flaccid paralysis
- distal paraesthesia
- reduced tone
- absent reflexes
- ptosis
- CN VII palsy
investigations:
- CN examination
- spirometry
treatment: IVIg, plasmaphoresis
Hand preference
timing: abnormal under 1 year
pathology: suggestive CP
Hypomelanosis of Ito
clinical:
- skin: whorled, marbled area of hypopigmentation
- neurological 50%
Incontinentia pigmenti
genetics: XLD, male lethal, females affected
clinical:
- rash: hyperpigmented rash splattered
- seizures
- MR
- spasticity
- ocular abnormalities: posterior mass
examination: head circumference, neurodevelopmental exam, eye examination
Ketogenic diet
diet: 4 fat: 1 CHO: 1 protein
pathogenesis: ketones as brains main fuel
- raises seizure threshold
effect: 1/3 significant improvement, 1/3 mild, 1/3 none
side effects: renal calculi, osteopaenia, weight loss
Limb girdle dystrophy
genetics: AR
clinical:
- onset late childhood
- hip/shoulder atrophy/weakness
- progresses distally
- waddling gait
- calf hypertrophy and ankle contractures
MDT for CP
paediatrician: co-ordinating role
physiotherapist: assessment and planning of therapy
- prevents contractures/deformities
- aids normal motor development
OT: adapting environment to aid function
SP: feeding problems, speech
- encourage parents to stimulate communication
SW: support for family in periods of stress
- assist with social admissions/respite
Moebius syndrome
etiology: bilateral but asymmetrical LMN facial palsy associated with CN VI palsies
- underdevelopment of CN nuclei
clinical:
- facial muscle weakness
- failure of abduction and paralytic convergent squint of affected eyes
muscular disorders causing facial weakness
causes:
- congenital myopathies
- fasciohumeral muscular dystrophy
- mitochondrial myopathies
- myasthenic syndromes
- myotonic dystrophy
Myotomes
Myotonia
definition: failure of muscle to relax after contraction
Myotonic dystrophy
genetics: AD genetic anticipation
pathophysiology: delay of muscle to relax after contraction
clinical:
- progressive weakness face, jaw, neck and distal muscles
- expressionless, immobile face
- failure to relax when shaking hand
- hypotonia, poor muscle bulk, weakness
- reduced reflexes
- cataracts
- ID
- insulin resistance
investigations
- microarray
- ECG
Neufibromatosis 2 (10%)
genetics: AD chromosome 22
clinical:
- bilateral acoustic neuromas
- unilateral acoustic neuroma and 1st degree relative
OR 2 or more of
- schwannoma
- neurofibroma
- meningioma
- glioma
- juvenille posterior subscapular lenticular opacities
Neurofibromatosis
Type 1 (90%)
genetics: AD chromosome 17
clinical (2 or more)
- >5 cafe au lait with >5mm pre pubertal or >15mm post
- axillary/inguinal freckling
- optic gliomas
- 2 or more neurofibromas
- 1 plexiform fibroma
- 2 or more Lisch nodules
- Others: coarctation, renal bruit, macrocephaly, kyphoscoliosis
investigations:
- slit lamp
- head circumference
Nystagmus
cerebellar: jerky, horizontal, increased with gaze towards side of lesion, fast beat to lesion
vestibular: slow phase to side of lesion
vertical: brainstem lesion (pontomedullary junction)
ocular: slow, searching movements (ocular blindness)
Other eye signs
Papilliedema
Bilateral:
Raised ICP:
- mass
- oedema
- increased production/decreased absorption CSF
- obstructive hydrocephalus/venous outflow
- idiopathic intracranial HTN
Malignant HTN
Pseudopapilliedema: drusen, refractive errors
Unilateral:
Papillitis
Sarcoidosis
Leber’s hereditary Optic Neuritis
Central retinal vein occlusion
Power grading
pseudo bulbar palsy
etiology: bilateral supranuclear UMN lesions of lower cranial nerves resulting in poor tongue and pharynx movement
signs
- stiff spastic tongue not wasted
- dry voice and dysarthria
- preserved gag and palatal reflexes
- exaggerated jaw jerk
Psychometric testing
Weschler Preschool/PS Scale of Intelligence (WIPPSI): <6yo
Wechsler Intelligence Scale (WISC): 6-16
Wechsler Adult Intelligence Scale (WAIS): >16
Ptosis
syndromic:
- Noonan’s
- Rubenstein-Taybi: microceph, broad thumbs, DD
- Smith-Lemli Opitz
- Marcus Gunn
neurological:
- CN III palsy
- Horner’s
- Myasthenia Gravis
- Dystrophia myotonica
- craniosynostosis
- neuroblastoma
- migraine
other:
- congenital/idiopathic
- ocular tumours (rhabdomyosarcomas)
Reflexes
Sensory examination
spinothalamic axis: pain, light touch and temperature
posterior column: joint position sense, vibration, proprioception
Spasticity
complications
1. functional mobility
2. pain
3. contractures: imbalance flexors/adductors
4. pressure sores
5. hip dislocation
6. scoliosis
CP
hip
monitoring: XR 12 month if 2yrs OR limited abduction <30 degrees
preventative: physio, exercise, treat spasticity
treatment: pavlik harness, hip spica, femoral osteostomies, acetabular recontruction
Spasticity
treatment
IM: Botox
oral: baclofen, benzos, dantrolene
intrathecal: baclofen
surgery: selective dorsal rhizotomy
Spina Bifida
Spina Bifida
definition: spinal developmental disorders with protrusion of vertebral canal contents through vertebral defects
types: named after the contents found in lesion
- meningocoele: meninges/CSF
- myelomeningocoele: meninges/CSF/nerves
associated problems:
- joint contractures, hip dislocation
- scoliosis
- ulcers on feet
- incontinence
- learning issues
- latex allergy
Spinal Muscular Atrophy
genetics: AR deletion
clinical:
- 5-15yrs
- waddling gait
- proximal muscle weakness
- Gower’s signe
- hypotonia
- reduced reflexes
- tongue fasciculations
investigations:
- electromyography
- nerve conduction studies
- DNA analysis
Spinal Muscular Atrophy
genetics: AR chromosome 5
clinical:
- onset 1st year
- alert
- immobile, frog like posture
- bell chest with see-saw breathing
- proximal muscle wasting
- muscle weakness, hypotonia
- reduced/absent reflexes
- fasciculations
investigations:
- gene probe
Strabismus
Exotropia, esotropia, hypotropia, hypertropia
Cover/uncover test: cover eye that is fixing and other eye will take up fixation
- manifest squint
Alternate cover test: eyes symmetrical but when one eye covered squint develops and seen when uncovered
- latent squint
Treatment of squint
- Best vision: maintain vision by covering unaffected eye
- Best position: usually require surgery
Sturge Weber syndrome
genetic: sporadic
clinical:
- usually unilateral: upper face/eyelid
- facial capillary haemangioma
- leptomeningeal angiomas
- glaucoma
- CNS: ipsilateral meninges/cortex, IC calcification, seizures, contralateral hemiparesis, learning difficulties
investigations: skull XR, EEG, MRI, eye pressure
Tics
definition: sudden brief and purposeless stereotyped movement which to some extent can be suppressed by voluntary effort
Treatment seizures
GTCS: valproate, carbamazepine, lamotrigine, topiramate
partial: carbamazepine, valproate, lamotrigine, gabapentin, topiramate
absence: ethosuximide, valproate, lamotrigine
myoclonic: valproate, lamotrigine
tonic/atonic: lamotrigine, valproate
AVOID
- carbamazepine in absence
- carbamazepine/gabapentin in myoclonic
Female reproductive age:
- lamotrigine if on OCP
- carbamazepine if pregnant
Tremor
causes:
- physiological
- drug induced: salbutamol, thyroxine
- benign essential tremor: positive familial hx, intentional
- cerebellar: intentional
Tuberous sclerosis
genetics: AD TSC1/TSC2 tumour suppressor gene chromosome 9
clinical:
- seizures: infantile spasms, learning disability 30-60%
- skin: hypopigmented macules (ash leaf), adenoma sebaceum along naso-labial folds, shagreen patches, cafe au lait spots, periungal fibromas
- teeth: pits
- eyes: choroidal hamartomas
- CNS: cerebral astrocytomas, malignant gliomas, hydrocephalus
- kidney: renal angiomas, PCK
- heart: rhabdomyomas
- GI: rectal polyp
investigations: BP, renal US, ECHO, ECG, EEG, CT/MRI
UMN/LMN
Uveitis
clinical: inflammation of the uveal tract (innver vascular structures with iris, ciliary body and choroid)
chronic changes
- decrease VA
- decreased pupillary response
- corneal clouding
causes:
- ANA positive arthritis
CNS
tuberous sclerosis
CNS: cortical tubers, subependymal nodules
