Neuro - genetic disease, infections, headaches Flashcards

1
Q

what is Duchenne Muscular Dystrophy

A

X-linked recessive disease causing deficiency is dystrophin

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2
Q

what are the symptoms of Duchenne Muscular Dystrophy

A

delay in motor development = not walking by 18months
muscle weakness at 3-4yrs
toe walking
gower’s sign

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3
Q

what is the investigations of Duchenne Muscular Dystrophy

A

electromyography (EMG)
muscle biopsy
genetic testing

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4
Q

what is Huntington’s disease

A

progressive neurodegenerative disorder

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5
Q

what is the cause of Huntington’s disease

A

autosomal dominant expansion of CAG trinucleotides

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6
Q

what are the symptoms of Huntington’s disease

A
progressive 
involuntary movements 
dementia 
issues with activities requiring dexterity (including walking)
weight loss
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7
Q

what is the investigation for Huntington’s disease

A

genetic testing

MRI = loss of caudate heads

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8
Q

what is spinal muscular atrophy

A

progressive loss of anterior horn cells in spinal cord and brain stem nuclei

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9
Q

what is the cause of spinal muscular atrophy

A

autosomal recessive SMN1 deficiency

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10
Q

what causes alzheimer’s disease

A

loss of cortical neurones and presence of neurofibrillary tangles and senile plaques

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11
Q

what is a senile plaque

A

extracellular deposit containing amyloid beta protein

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12
Q

what is encephalitis

A

inflammation of the brain parenchyma

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13
Q

what are the symptoms of encephalitis

A
seizures
stupor/coma
confusion/changed mental state 
focal/neurological signs 
behaviour/speech disturbances
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14
Q

what are the investigations of encephalitis

A

lumbar puncture
EEG
MRI

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15
Q

what is the treatment of encephalitis

A

pre-emptive IV aciclovir

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16
Q

when should you consider mengio-encephalitis

A

if the patient has features of encephalitis + headache. fever and neck stiffness

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17
Q

what is meningitis

A

inflammation of the meninges which are surround the brain and spinal cord

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18
Q

what are the symptoms meningitis of

A
fever
stiff neck 
altered conscious 
headache 
vomiting 
photophobia 
non-blanching red rash
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19
Q

what are the investigations of meningitis

A
lumbar puncture
CT 
blood culture
swab rash
throat swab
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20
Q

when would you not bother doing a lumbar puncture in suspected meningitis

A

if you were confident on the clinical diagnosis with a typical rash

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21
Q

when would a lumbar puncture be contraindicated? what would you do instead?

A

high ICP/ papilloadema
immunocompromised
new onset seizure
altered consciousness

do CT instead

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22
Q

what is the treatment of meningitis? when is it given

A

given BEFORE lumbar puncture

cefotaxime + dexamethasone IV

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23
Q

what is the treatment of meningitis if over 60

A

IV cefotaxime + dexamethasone IV + amoxicillin

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24
Q

what is the treatment of meningitis if penicillin allergic

A

chloramphenicol + dexamethasone IV

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25
Q

what is the contact prophylaxis treatment of meningitis

A

ciprofloxacin PO

rifampicin PO 12hrly x4

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26
Q

what is aseptic meningitis

A

non-pyogenic bacterial meningitis

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27
Q

what is the investigation for aseptic meningitis? what would you expect to find?

A

CSF

low WBC
minimally elevated protein
normal glucose

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28
Q

what are the features of bacterial meningitis

A

thick layer of pus covering brain

29
Q

what is the common cause of bacterial meningitis in neonates

A

listeria
group B strep
E.coli

30
Q

what is the common cause of bacterial meningitis children

A

H. influenza

31
Q

what is the common cause of bacterial meningitis >65

A

strep pneumonia

32
Q

what is the common cause of bacterial meningitis aged 10-21

A

neisseria meningitis

33
Q

what is the treatment of meningitis if >60 AND penicillin allergic

A

Chloramphenicol IV + dexamethasone IV + co-trimoxazole

34
Q

what is the treatment of meningitis caused by listeria

A

IV cefotaxime + dexamethasone IV + amoxicillin

35
Q

what is the investigations for viral meningitis? what would each identify

A

stool culture = enterovirus
throat swab = enterovirus
CSF PCR = enterovirus, HSV, VZV

36
Q

who commonly gets cryptococcal meningitis

A

HIV patients

37
Q

what are the investigations for cryptococcal meningitis

A

CSF aseptic

serum and CSF cryptococcal antigen

38
Q

what causes TB meningitis

A

reactivation of TB

39
Q

what is a migraine

A

headache

40
Q

what is the causes of migraine

A

stress
lifestyle triggers
vascular & neural influences

41
Q

describe the diagnostic features of a migraine

A

at least 5 attacks lasting 4-72hrs

2 of: unilateral, throbbing pain, worse on movement

1 of: autonomic features, photophobia/phonophobia

42
Q

describe the diagnostic features of a migraine with aura

A

Aura fully reversible visual, sensory, motor or language symptom. lasts 20-60 mins

headache follows <1hr/simultaneously

43
Q

what is the non-pharmacological treatment of migraine

A

stress management
lifestyle
headache diary

44
Q

what is the pharmacological treatment of migraine

A

NSAID = aspirin + naproxen + ibruprofen +/- antiemtic

Triptans = 5HT agonist

45
Q

give examples of triptans used to treat migraine

A

rizatriptan, eletriptan

frovatriptan = sustained relief

46
Q

when would you consider prophylaxis treatment of migraine

A

if very severe or >3 attacks per month

trail each drug for minimum of 3 months

47
Q

what drugs are used in the prophylaxis treatment of migraine

A

amitriptyline
propranolol = AVOID ASTHMA/HF
topiramate

48
Q

what are the symptoms of a tension type headache

A

pressing, tingling quality

NO nausea & vomiting, photophobia, phonophobia

49
Q

what is the treatment of a tension type headache

A

relaxation therapy
anti-depressants
reassure

50
Q

what are trigeminal autonomic cephalgias (TACs)

A

group of primary headaches characterised by unilateral trigeminal distribution pain with ipsilateral features

51
Q

what are the types of trigeminal autonomic cephalgias (TACs)

A

cluster
paroxsymal hemicrania
hemicrania continua
SUNCT

52
Q

what are the symptoms of trigeminal autonomic cephalgias (TACs)

A
ptosis
miosis
nasal stuffiness
nausea &amp; vomiting 
tearing 
eye lid oedema
53
Q

what are the investigations of trigeminal autonomic cephalgias (TACs)

A

Brain MRI

MR angiogram

54
Q

what are the symptoms of a cluster headache

A

severe, unilateral headache lasting 40-90 mins

frequent (1-8 daily) for a few weeks/months

55
Q

what is the treatment of cluster headaches

A

high flow O2
sub cutaneous sumatriptan
steriods (reducing over 2 weeks)
verapamil = prophylaxis

56
Q

who is usually affected by cluster headaches

A

young males

57
Q

who is usually affected by paroxysmal hemicrania

A

elderly, usually women

58
Q

what is the symptoms of paroxysmal hemicrania

A

severe, unilateral headache with unilateral autonomic features lasting 10-30 mins

occur 1-40 times a day

59
Q

what is the treatment for paroxysmal hemicrania

A

indomethicin = should have an absolute response

60
Q

What is SUNCT

A
Short-lived (15-20secs)
Unilateral 
Neuralgiaform headache 
Conjunctival injections (red eye)
Tearing
61
Q

what is the treatment of SUNCT

A

lamotrigine

gabapentin

62
Q

who most commonly gets idiopathic intracranial hypertension

A

obese

females

63
Q

what are the symptoms of idiopathic intracranial hypertension

A

headache (secondary) = dirunal variation
morning V&N
visual loss
papilloedema

64
Q

what are the investigations of idiopathic intracranial hypertension

A

Brain MRI = normal
CSF = elevated pressure
visual field
visual back of eye

65
Q

what is the treatment of idiopathic intracranial hypertension

A

weight loss
acetazolamide
shunt
monitor

66
Q

what are the symptoms of trigeminal neuralgia

A

severe stabbing, unilateral pain
triggered by touch
lasts 1-90sces

67
Q

what is the investigation of trigeminal neuralgia

A

bran MRI

68
Q

what is the pharmacological treatment of trigeminal neuralgia

A

Carbamazepine
Gabapentin
Phenytoin
Baclofen

69
Q

what is the non -pharmacological treatment of trigeminal neuralgia

A

surgery:
ablation
decompression