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MS4 - Neurology > Myasthenia Gravis + Neurofibromatosis > Flashcards

Myasthenia Gravis + Neurofibromatosis Flashcards

1
Q

Myasthenia gravis (MG) pathology

A

Autoimmune

Antibodies against nicotinic ACh receptors

Interferes with neuromuscular transmission

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2
Q

Presentation of MG

A

Increasing muscular fatigue

Reflexes normal

Ptosis

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3
Q

Muscle groups affected in MG in order

A

Extra-ocular

Bulbar (swallowing, chewing)

Face

Neck

Limb girdle

Trunk

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4
Q

Factors which worsen muscle weakness in MG

A

Pregnancy

Low K

Infection

Exercise

Gentamicin

Beta blockers

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5
Q

Associations of MG if age under 50 yrs

A

F

Other autoimmune

Thymic hyperplasia

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6
Q

Associations of MG if age > 50 yrs

A

M

Thymic atrophy / tumour

Rheumatoid

SLE

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7
Q

Ix for MG

A

Anti-AChR antibodies

MUSK antibodies

Neurophysiology

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8
Q

MUSK antibodies

A

Muscle specific tyrosine kinase

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9
Q

MG findings in neurophysiology

A

Decreasing muscle response to repetitive nerve stimulation

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10
Q

Mx of MG

A

Symptom control

Immunosuppression

Thymectomy

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11
Q

Sx control for MG

A

Pyridostigmine

(Anticholinesterase)

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12
Q

Immunosuppression for MG

A

Prednisolone

+/- azathioprine / methotrexate

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13
Q

Use of immunosuppression for MG

A

Relapses

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14
Q

When to consider thymectomy for MG

A

Onset < 50 yrs

Thymoma

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15
Q

Cholinergic SEs

A

Hypersalivation

Lacrimation

Sweats

Vomiting

Miosis

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16
Q

Prognosis of MG

A

Relapsing or slow progression

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17
Q

Myasthenic crisis

A

Respiratory muscle weakness in relapse

Life threatening

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18
Q

Mx of myasthenic crisis

A

Plasmapheresis or IV Ig

Rx trigger (eg. infection, drugs)

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19
Q

Plasmapheresis

A

Filter blood

Removes antibodies from plasma

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20
Q

Lambert-Eaton myasthenic syndrome pathology

A

Antibodies to voltage gated Ca channel on presynaptic membrane

21
Q

Causes of Lambert-Eaton myasthenic syndrome

A

Paraneoplastic (from small cell lung cancer)

Autoimmune

22
Q

Features of Lambert-Eaton myasthenic syndrome (differing from MG)

A

Gait difficulty before eye signs

Autonomic involvement

Hyporelexia and weakness improving after exercise

23
Q

Mx of Lambert-Eaton myasthenic syndrome

A

3,4-diaminopyridine

IV Ig

24
Q

Types of neurofibromatosis

A

Type 1 neurofibromatosis (NF1)

Type 2 neurofibromatosis (NF2)

25
Q

Other name for NF1

A

von Recklinghausen’s disease

26
Q

NF1 inheritance

A

Autosomal dominant

27
Q

Signs of NF1

A

Cafe-au-lait spots

Freckling

Dermal neurofibromas

Nodular neurofibromas

Lisch nodules

Short stature

Macrocephaly

28
Q

Cafe-au-lait spots

A

Flat

Coffee coloured patches of skin

Seen in 1st year of life

Increase in size and number

29
Q

Freckling in NF1

A

In skin folds

Present by age 10

30
Q

Dermal neurofibromas

A

Small

Violaceous nodules

Gelatinous texture

Appear at puberty and increase in number

Painless

31
Q

Nodular neurofibromas

A

From nerve trunks

Firm

Well demarcated

Paraesthesia if pressed

32
Q

Lisch nodules

A

Tiny and harmless

Brown / translucent mounds (hamartomas)

On iris

Develop by 6 yrs

33
Q

Complications of NF1

A

Mild learning disability

Local effects of neurofibromas

HTN

Malignancy

Epilepsy

Carcinoid syndrome (rare)

34
Q

Local effects of neurofibromas

A

Nerve root compression

GI bleeds / obstruction

Bone cystic lesions

Scoliosis

35
Q

Malignancy risks with NF1

A

Optic glioma

Sarcomatous change in neurofibromas

36
Q

Diagnosis of NF1

A

2 or more of:

  • 6+ cafe-au-lait spots
  • 2+ neurofibromas
  • Freckling in axilla / inguinal region
  • Optic glioma
  • 2+ lisch nodules
  • Typical osseous lesion
  • First degree relative with NF1
37
Q

Mx of NF1

A

MDT

Genetic counselling

Can excise particulary troublesome neurofibromas

(Not all though)

38
Q

NF2 inheritance

A

Autosomal dominant

Mosaicism in 50%

39
Q

Which is more common, NF1 or NF2?

40
Q

Signs of NF2

A

Cafe-au-lait spots

Bilateral vestibular schwannomas

Juvenile posterior subscapular lenticular opacity

41
Q

Juvenile posterior subscapular lenticular opacity

A

Form of cataracts

42
Q

Rough age of vestibular schwannoma presentation

43
Q

Complications of NF2

A

Tender schwannomas (cranial / peripheral nerves)

Meningiomas

Glial tumours

44
Q

Diagnosis of NF2

A

1) Bilateral vestibular schwannomas

OR

2) First degree relative with NF2

+ a) unilateral vestibular schwannoma OR

b) one of:
- Neurofibroma
- Meningioma
- Glioma
- Schwannoma
- Jeuvenile cataract

45
Q

Mx of NF2

A

Hearing tests yearly from puberty

Neurosurgery for vestibular schwannomas

46
Q

Prognosis of NF2

A

Mean survival 15 yrs from diagnosis

47
Q

Mosaicism NF2 definition

A

NF2 but vestibular schwannomas may be absent

48
Q

Schwannomatosis definition

A

Multiple tender cutaneous schwannomas

No vestibular schwannomas

Normal life expectancy

MS4 - Neurology (11 decks)

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