Neurology exam Flashcards
(72 cards)
1
Q
Anti-epileptic levels
A
Important: phenytoin, phenobarbitone
Useful: carbamazepine
Not useful: valproate, lamotrigine
2
Q
Ataxia Telangiectasia
A
genetics: AR chromosome 11
clinical:
- onset early childhood
- telangiectasia of bulbar conjunctiva/behind ears
- cerebellar ataxia
- increased malignancy (lymphoreticular)
- increased infection (low IgA/IgG)
3
Q
Ataxic cerebral palsy
A
clinical:
- broad based gait
- increased tone and reflexes in LL
- nystagmus
- intention tremor with past pointing
- Romberg’s negative
4
Q
Athetoid cerebral palsy
A
defect: extrapyramidal system or basal ganglia
clinical:
- increased tone
- abnormal posturing
- involuntary movements
causes:
- HIE
- kernicterus
5
Q
Abnormal movements
A
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
6
Q
Athetosis
A
definition: slow writhing movement of the limbs
7
Q
Cataracts
A
causes:
- metabolic: galactosaemia
- Wilson’s
- hypoparathyroidism
- diabetes
- dystrophica myotonica
- intrauterine infection
- steroids
8
Q
Causes of ataxia
A
9
Q
Cerebral Palsy
-other issues-
A
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
10
Q
Charcot Marie Tooth disease
A
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
11
Q
Cherry red spot
A
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
12
Q
Chorea
A
definition: rapid irregular repetitive jerking, either generalised or affecting one part of the body
13
Q
CN eye palsies
A
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
14
Q
CN III palsy
A
causes:
congenital (most common)
- chromosomal abnormalities
- CP
acquired
- tumours
- infection
- head injury
15
Q
CN IV palsy
A
causes:
- raised ICP as long intracranial course
16
Q
CN IX, X, XII palsy
A
all leave via jugular foramen and are affected by lesions at the base of the skull eg. Arnold-Chiari malformation
17
Q
CN V palsy
A
causes:
- brainstem gliomas
- infarction, AVM
- acoustic neuromas
- chronic suppurative OM
- cavernous sinus thrombosis
18
Q
CN VI palsy
A
RARELY congenital
acquired
- raised ICP
- AVM
- meningitis
19
Q
CN VII palsy
A
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
20
Q
Coloboma
A
causes:
- familial (AD)
- WAGR association
- CHARGE association
- Goldenhar syndrome
21
Q
Congenital ataxias
A
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
22
Q
Congenital Myotonic Dystrophy
A
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
23
Q
Corneal clouding
A
causes
- GM1 gangliosidosis
- Fucosidosis
- MPS
- Mucolipidosis
24
Q
CP causes
“SSSSSHHHII” t
A
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
25
CP
investigations
MRI brain
MRI spinal cord (if spinal lesion suspected)
Chromosome analysis
EEG
Congenital infection screen
Metabolic screen
Opthalmology assessment
Hearing tests
26
CVA
27
Floppy infant
28
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
29
Drooling
| (sialorrhoea)
**MEDICATIONS**
**anticholinergics**
- benzhexol
- glycopyrolate
**botox injections**
30
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
31
Dystonia
**definition:** abnormal posturing of the limbs, trunk and face
- can occur in association with choreoathetosis
**causes:** CP, drugs, Wilson's
32
Facioscapulohumeral muscular dystrophy
**genetics:** AD deletion
**clinical:**
* facial and shoulder girdle
* expressionless face
* winging scapula
* shoulder muscle weakness
33
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
34
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
35
Hand preference
**timing:** abnormal under 1 year
**pathology:** suggestive CP
36
Hypomelanosis of Ito
**clinical:**
* skin: whorled, marbled area of hypopigmentation
* neurological 50%
37
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
38
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
39
Limb girdle dystrophy
**genetics**: AR
**clinical:**
* onset late childhood
* hip/shoulder atrophy/weakness
* progresses distally
* waddling gait
* calf hypertrophy and ankle contractures
40
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
41
Moebius syndrome
**etiology:** bilateral but asymmetrical LMN facial palsy associated with CN VI palsies
## Footnote
- underdevelopment of CN nuclei
**clinical:**
* facial muscle weakness
* failure of abduction and paralytic convergent squint of affected eyes
42
muscular disorders causing facial weakness
**causes:**
* congenital myopathies
* fasciohumeral muscular dystrophy
* mitochondrial myopathies
* myasthenic syndromes
* myotonic dystrophy
43
Myotomes
44
Myotonia
definition: failure of muscle to relax after contraction
45
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
46
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
47
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
48
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)
49
Other eye signs
50
Papilliedema
**Bilateral:**
## Footnote
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
51
Power grading
52
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
53
Psychometric testing
**Weschler Preschool/PS Scale of Intelligence (WIPPSI):** \<6yo
**Wechsler Intelligence Scale (WISC):** 6-16
**Wechsler Adult Intelligence Scale** (**WAIS):** \>16
54
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)
55
Reflexes
56
Sensory examination
**spinothalamic axis:** pain, light touch and temperature
**posterior column:** joint position sense, vibration, proprioception
57
Spasticity
complications
**1.** functional mobility
**2.** pain
**3.** contractures: imbalance flexors/adductors
**4.** pressure sores
**5.** hip dislocation
**6.** scoliosis
58
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
59
Spasticity
treatment
**IM:** Botox
**oral:** baclofen, benzos, dantrolene
**intrathecal:** baclofen
**surgery: selective dorsal rhizotomy**
60
Spina Bifida
61
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
62
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
63
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
64
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**
1. Best vision: maintain vision by covering unaffected eye
2. Best position: usually require surgery
65
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
66
Tics
**definition:** sudden brief and purposeless stereotyped movement which to some extent can be suppressed by voluntary effort
67
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
68
Tremor
**causes:**
* physiological
* drug induced: salbutamol, thyroxine
* benign essential tremor: positive familial hx, intentional
* cerebellar: intentional
69
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
70
UMN/LMN
71
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
72
CNS
tuberous sclerosis
**CNS:** cortical tubers, subependymal nodules
