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Clinical Exam > Neurology exam > Flashcards

Neurology exam Flashcards

1
Q

Anti-epileptic levels

A

Important: phenytoin, phenobarbitone

Useful: carbamazepine

Not useful: valproate, lamotrigine

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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)
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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
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4
Q

Athetoid cerebral palsy

A

defect: extrapyramidal system or basal ganglia

clinical:

  • increased tone
  • abnormal posturing
  • involuntary movements

causes:

  • HIE
  • kernicterus
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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

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6
Q

Athetosis

A

definition: slow writhing movement of the limbs

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7
Q

Cataracts

A

causes:

  • metabolic: galactosaemia
  • Wilson’s
  • hypoparathyroidism
  • diabetes
  • dystrophica myotonica
  • intrauterine infection
  • steroids
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8
Q

Causes of ataxia

A
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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
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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
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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
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12
Q

Chorea

A

definition: rapid irregular repetitive jerking, either generalised or affecting one part of the body

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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
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14
Q

CN III palsy

A

causes:

congenital (most common)

  • chromosomal abnormalities
  • CP

acquired

  • tumours
  • infection
  • head injury
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15
Q

CN IV palsy

A

causes:

  • raised ICP as long intracranial course
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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

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17
Q

CN V palsy

A

causes:

  • brainstem gliomas
  • infarction, AVM
  • acoustic neuromas
  • chronic suppurative OM
  • cavernous sinus thrombosis
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18
Q

CN VI palsy

A

RARELY congenital

acquired

  • raised ICP
  • AVM
  • meningitis
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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
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20
Q

Coloboma

A

causes:

  • familial (AD)
  • WAGR association
  • CHARGE association
  • Goldenhar syndrome
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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
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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
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23
Q

Corneal clouding

A

causes

  • GM1 gangliosidosis
  • Fucosidosis
  • MPS
  • Mucolipidosis
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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

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25
Q

CP

investigations

A

MRI brain

MRI spinal cord (if spinal lesion suspected)

Chromosome analysis

EEG

Congenital infection screen

Metabolic screen

Opthalmology assessment

Hearing tests

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26
Q

CVA

A
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27
Q

Floppy infant

A
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28
Q

DMD

A

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
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29
Q

Drooling

(sialorrhoea)

A

MEDICATIONS

anticholinergics

  • benzhexol
  • glycopyrolate

botox injections

30
Q

Duane syndrome

A

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
Q

Dystonia

A

definition: abnormal posturing of the limbs, trunk and face

  • can occur in association with choreoathetosis

causes: CP, drugs, Wilson’s

32
Q

Facioscapulohumeral muscular dystrophy

A

genetics: AD deletion

clinical:

  • facial and shoulder girdle
  • expressionless face
  • winging scapula
  • shoulder muscle weakness
33
Q

Frederich’s Ataxia

A

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
Q

Guillain-Barre Syndrome

A

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
Q

Hand preference

A

timing: abnormal under 1 year

pathology: suggestive CP

36
Q

Hypomelanosis of Ito

A

clinical:

  • skin: whorled, marbled area of hypopigmentation
  • neurological 50%
37
Q

Incontinentia pigmenti

A

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
Q

Ketogenic diet

A

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
Q

Limb girdle dystrophy

A

genetics: AR

clinical:

  • onset late childhood
  • hip/shoulder atrophy/weakness
  • progresses distally
  • waddling gait
  • calf hypertrophy and ankle contractures
40
Q

MDT for CP

A

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
Q

Moebius syndrome

A

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
42
Q

muscular disorders causing facial weakness

A

causes:

  • congenital myopathies
  • fasciohumeral muscular dystrophy
  • mitochondrial myopathies
  • myasthenic syndromes
  • myotonic dystrophy
43
Q

Myotomes

A
44
Q

Myotonia

A

definition: failure of muscle to relax after contraction

45
Q

Myotonic dystrophy

A

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
Q

Neufibromatosis 2 (10%)

A

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
Q

Neurofibromatosis

Type 1 (90%)

A

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
Q

Nystagmus

A

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
Q

Other eye signs

A
50
Q

Papilliedema

A

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

51
Q

Power grading

A
52
Q

pseudo bulbar palsy

A

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
Q

Psychometric testing

A

Weschler Preschool/PS Scale of Intelligence (WIPPSI): <6yo

Wechsler Intelligence Scale (WISC): 6-16

Wechsler Adult Intelligence Scale (WAIS): >16

54
Q

Ptosis

A

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
Q

Reflexes

A
56
Q

Sensory examination

A

spinothalamic axis: pain, light touch and temperature

posterior column: joint position sense, vibration, proprioception

57
Q

Spasticity

complications

A

1. functional mobility

2. pain

3. contractures: imbalance flexors/adductors

4. pressure sores

5. hip dislocation

6. scoliosis

58
Q

CP

hip

A

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
Q

Spasticity

treatment

A

IM: Botox

oral: baclofen, benzos, dantrolene

intrathecal: baclofen

surgery: selective dorsal rhizotomy

60
Q

Spina Bifida

A
61
Q

Spina Bifida

A

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
Q

Spinal Muscular Atrophy

A

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
Q

Spinal Muscular Atrophy

A

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
Q

Strabismus

A

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
Q

Sturge Weber syndrome

A

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
Q

Tics

A

definition: sudden brief and purposeless stereotyped movement which to some extent can be suppressed by voluntary effort

67
Q

Treatment seizures

A

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
Q

Tremor

A

causes:

  • physiological
  • drug induced: salbutamol, thyroxine
  • benign essential tremor: positive familial hx, intentional
  • cerebellar: intentional
69
Q

Tuberous sclerosis

A

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
Q

UMN/LMN

A
71
Q

Uveitis

A

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
Q

CNS

tuberous sclerosis

A

CNS: cortical tubers, subependymal nodules

Clinical Exam (16 decks)

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