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Flashcards in Syndromes Deck (70)
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1
Q

What is Eaton-Lambert Syndrome?

A

Paraneoplastic syndrome causing muscle weakness due to autoantibodies against the neuromuscular junction voltage-gated calcium channels. Typically involves proximal muscles.

2
Q

What is NMDA encephalitis

A

The most common autoimmune encephalitis. Typically presenting with prodromal fever and headache then behavioural changes, insomnia, memory deficits, seziures, decreased consciousness, dyskinesia, autonomic instability and language dysfunction. Associated with teratomas.

3
Q

What is Cerebellopontine syndrome?

A

Due to tumours causing obstruction at the cerebellopontine angle. Causes a palsy of:

CN VIII

CN V

CN VII

4
Q

What is carried in the posterior columns? Where are they located?

A

Sensory pathways carrying light touch and proprioception

5
Q

What does the lateral spinothalamic tract carry and where is it located?

A

It carries pain and temperature

6
Q

What does pyramidal weakness refer to?

A

Upper motor neuron lesion

  • Spasticity
  • Weakness
  • Hyperreflexia
  • Up going babinski
7
Q

What are the clinical features of myotonic dystrophy?

A

Distal weakness - intrsinic muscles of the hands and foot drop classically (type 2 can have more proximal weakness)

Facial muscle weakness

Weakness of sternocleidomastoids

Myotonia - abnormally slow or delayed muscle relaxation

Other features - intellectual disability, cataracts, gonadal atrophy, insulin resistance etc

8
Q

What is the inherritance pattern of myotonic dystrophy?

A

2 forms

Type 1 - CTG trinucleotide repeat in the DMPK gene

Type 2 - CCTG nucleotide repeat in the ZNF9 gene

Both show anticipation and can have somatic mosacism

9
Q

What are the clinical features of duchenne and becker muscular dystrophy?

A

Presentation in childhood

Proximal then distal weakness

Lower then upper limb

pseudohypertrophy of the calves

Raised CK

Dilated cardiomyopathy

10
Q

What is the pathophysiology of duchenne and becker muscular dystrophy?

A

Due to mutations in the dystrophin gene

X-linked

In the abscence of dystrophin the glycoprotein complex is digested by proteases and there is muscle fibre degeneration.

11
Q

What are the strongest risk factors for recurrence in TIA/minor stroke?

A

Multiple infarcts on imaging

Large artery atherosclerosis

ABCD2 score 6-7

12
Q

What antihypertensives should be avoiding in stroke?

A

Beta blockers - weak evidence for increased stroke

Calcium channel blockers should be used instead

13
Q

What is the target BP in intracranial haemorrhage?

A

<140

14
Q

What are the most common stroke mimics?

A
  1. Seizure
  2. Sepsis
  3. Toxic/metabolic
  4. Space occupying lesion
15
Q

What is the cut off treating symptomatic carotid stenosis? What imaging should be used

A

Stenosis 70-99%

Gold standard of imaging is CT arch-cow

16
Q

Which patients should have HLA typing prior to starting antiepileptics? Which antiepileptics are implicated?

A

Han chinese, thai

HLA-B 1502

Carbemazepine and phenytoin - severe skin reactions

17
Q

Which anti-epileptic should be used for absence seizures?

A

Ethosuxamide

All others have the risk of exacerbating

18
Q

What is the first line anti-epileptic for focal seizures?

A

Carbemazapine

Other options are valproate, lamotragine and keppra

19
Q

What is the first line anti-epileptic for generalised seizures?

A

Valproate

If female of childbearing age - lamotragine or keppra

20
Q

What is the definition of drug resistant epilepsy?

A

Failure of adequate trials of 2 or more anti-epileptics to achieve seizure freedom

21
Q

What is the risk of epilepsy in family members of patients?

A

Siblings 3%

Children 5-8%

There is less risk with focal in comparison to genralised

22
Q

What foetal abnormalities are seen with topiramate?

A

Cleft lip and palate

Low birth weight

23
Q

What is an important drug interaction with lamotragine?

A

OCP lowers the levels of lamotragine as estrogen increases clearence

Levels also need to be monitoring and doses changed in preganancy for the same reason

24
Q

What is pompe disease?

A

Alpha glucosidase or acid maltase deficiency. It is a type 3 glycogenosis disease. Autosomal recessive

Usually an infantile presentation with severe muscle weakness including respiratory and cardiac. Can present in adulthood usually with respiratory muscle weakness

Management is with enzyme replacement

25
Q

What is McArdle disease?

A

Mutation in PYGM gene leading to a myophosphorylase deficiency.

It causes recurrent myoglobinuria, bought on by high intensity exercise. Other symptoms are muscle pain and stiffness.

Managment is conservative

26
Q

What is the most common cause of recurrent myoglobinuria?

A

Carnitine palmitoyltransferase 2 deficiency (CPT2)

It is a lipid storage myopathy

27
Q

What is the clinical picture of CPT2 deficiency?

A

Recurrent myoglobinuria and muscle pain with prolonged exercise, fasting and infection

Muscle strength normal between attacks

Usually presents in teens or early adulthood

28
Q

What is the treatment for myasthenia gravis?

A
  1. Supportive
  2. Pyridostigmine
  3. Early thyroidectomy (thymoma and without)
  4. IVIg - esp for crisis
  5. Steroids - may initially flare
  6. Immunosuppresion eg AZA, mycophenolate
  7. Plasma exchange
  8. Rituximab
29
Q

What antibodies are found in myasthenia gravis?

A

Anti-ACh receptor in approx 80%

Anti-MuSK

30
Q

What is L’hermittes sign?

A

Shooting pains down the back of the legs when bending the neck

Seen in MS

31
Q

What is Uhthoffs symptom?

A

Unilateral visual blurring when body temperature is increased eg hot showers, fevers

32
Q

What are the areas where MRI lesions can be found in MS which fulfill the diagnostic criteria?

A

Periventricular

Juxtacortical

Cortical

Infratentorial

Spinal cord

33
Q

What antibody is seen in NMO?

A

AQP4 antibody

Spectrum disorder - MOG antibody

34
Q

In clinically isolated syndrome what features are the highest risk for progression to MS?

A

>9 T2 MRI brain lesions

CSF oligoclonal bands present

Vitamin D <median></median>

35
Q

What are the treatment options for MS?

A

Lower efficacy (30%):

  • Interferon B
  • Glatiramer
  • Teriflunomide

Moderate efficacy(50%):

  • Fingolimod
  • Dimethyl fumarate
  • Cladrabine

Potent efficacy (>70%):

  • Natalizumab
  • Alemtuzumab
  • Ocrelizumab
36
Q

What MS treatment can be used in preganancy?

A

Glatiramer

Dimethyl fumarte

37
Q

What HLA subtype is associated with MS?

A

HLA DRB1 * 1501

38
Q

What disease modifying medication can be used in primary progressive MS?

A

Ocrelizumab - anti-CD20

39
Q

What is area postrema syndrome?

A

Seen classically in NMO

Gives nausea, hiccups and vomiting

40
Q

What is safinamide?

A

It is a combination of MAOB inhibitor and glutamate release inhibitor

Used for parkinson disease

Reduces dyskinesias

41
Q

What is the pathophysiology of multiple systems atrophy?

A

Alpha synculein deposition in glial cells in the nigrostriatal and olivopontinecerebellar structures

42
Q

What is this signs and what disease is it seen in?

A

Hot cross bun sign
Seen in advanced cerebellar form of multiple systems atrophy

43
Q

What is the pathophysiology of progressive supranuclear palsy? What is the MRI finding?

A

Tauopathy with perinuclear glial inclusions

Hummingbird sign with midbrain atrophy

44
Q

What is the pathophysiology of Huntigtons disease?

A

Loss of GABAergic neurons in the striatum

Caudate and putanum atrophy

45
Q

What is tetrabenazine?

A

It depletes dopamine in the CNS

Used for choriform movements, hemiballismus, tardative dyskinesia

46
Q

Lesions in what area of the brain cause hemiballismus?

A

Contralateral subthalamic nucleus

47
Q

What antibodies are often seen in treatment resistant CIDP?

A

Anti-neurofascin

Anti-CASPR

Anti-contactin 1

** anti-neurofascin tend to have a predominant tremor

48
Q

What are the clinical features of Charcot Marie Tooth?

A

Distal peripeheral neuropathy

Pes cavus

Inverse champagne bottle ankles

Loss of deep tendon reflexes

Hammer toes

49
Q

What is gerstmann syndrome?

A

Damage to the dominant parietal lobe (MCA territory)

  • Agraphia
  • Acalculia
  • R-L confusion
  • Finger agnosia
  • Ideomotor apraxia
50
Q

What symptoms are features of non-dominent parietal lobe infarcts?

A

Hemisensory neglect

Dressing apraxia

Constructional apraxia

51
Q

In which strokes are aphasia a component?

A

Dominent hemisphere MCA strokes

52
Q

What changes on MRI indicate a stroke that can be thrombolysed?

A

Changes on DWI but none on FLAIR

53
Q

What is carried in the dorsal column (medial lemniscal system)? Where does it decussate?

A

Carries proprioception and vibration

Decussates at the lower medulla forming the cuneate and gracile nuclei

54
Q

What is carried in the anterolateral pathway? Where does it decussate?

A

Pain and temperature

Decussates at the level of entry

55
Q

Which component of the corticospinal tract decussates at the pyramides?

A

The lateral tract. The ventral tract decussates at the level of exit

56
Q

What is Wallenberg Syndrome?

A

Also known as lateral medullary syndrome

Due to vertebral artery infarct

Ispilateral facial sensory loss

Contralateral pain and temperature hemisensory loss

Cerebellar/vestibular signs

Horner syndrome

57
Q

What is Foster Kennedy Syndrome?

A

Due to an inferior frontal lobe tumour

Optic atrophy in 1 eye and papilloedema in the other

58
Q

What nerve roots comprise of the radial nerve?

A

C5-8

59
Q

What is the motor, sensory and reflexes controlled by the radial nerve?

A

Motor - posterior (triceps, brachioradialis, hand extensors)

Sensory - posterior, dorsal aspect last 3 fingers

Reflex - triceps

60
Q

What is the nerve roots which comprise of the median nerve?

A

C6-T1

61
Q

What does the median nerve innovate?

A

Muscle - anterior arm except flexor carpi ulnaris and medial part of flexor digitorum profundus, LOAF muscles

Sensory - lateral part of palm and palmar side of the lateral 3 and a half fingers

62
Q

Which nerve roots comprise of the ulnar nerve?

A

C8-T1

63
Q

What does the ulnar nerve innovate?

A

Motor - small muscles of the hand expect LOAF, wrist flexion (flexor carpi ulnaris) and medial finger flexion (flexor digitorum profundus)

Sensory - medial 2 and a half fingers and corresponding palm

64
Q

What are the upper limb reflexes and what is their innovation?

A

Biceps - C5

Brachioradialis - C6

Triceps- C7

65
Q

What are the lower imb reflexes and what are their nerve roots?

A

Patellar - L4

Achilles - S1

66
Q

What are the nerve roots of the tibial nerve?

A

L4-S3

67
Q

What are the nerve roots of the common peroneal nerve?

A

L4-S2

68
Q

What nerve roots comprise the femoral nerve?

A

L2-4

69
Q

What does the femoral nerve innovate?

A

Motor - anterior thigh

Sensory - anteromedial thigh and medial lower leg and foot

Reflex - patella

70
Q

What is Wernickes aphasia?

A

Sensory/receptive aphasia

Due to disease of temporal lobe

Fluent speech but without meaning, ‘paragrammatic’

Unable to understand and unable to express