Neuro - genetic disease, infections, headaches

Question 1

what is Duchenne Muscular Dystrophy

Answer 1

X-linked recessive disease causing deficiency is dystrophin

Question 2

what are the symptoms of Duchenne Muscular Dystrophy

Answer 2

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

Question 3

what is the investigations of Duchenne Muscular Dystrophy

Answer 3

electromyography (EMG)
muscle biopsy
genetic testing

Question 4

what is Huntington’s disease

Answer 4

progressive neurodegenerative disorder

Question 5

what is the cause of Huntington’s disease

Answer 5

autosomal dominant expansion of CAG trinucleotides

Question 6

what are the symptoms of Huntington’s disease

Answer 6

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

Question 7

what is the investigation for Huntington’s disease

Answer 7

genetic testing

MRI = loss of caudate heads

Question 8

what is spinal muscular atrophy

Answer 8

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

Question 9

what is the cause of spinal muscular atrophy

Answer 9

autosomal recessive SMN1 deficiency

Question 10

what causes alzheimer’s disease

Answer 10

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

Question 11

what is a senile plaque

Answer 11

extracellular deposit containing amyloid beta protein

Question 12

what is encephalitis

Answer 12

inflammation of the brain parenchyma

Question 13

what are the symptoms of encephalitis

Answer 13

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

Question 14

what are the investigations of encephalitis

Answer 14

lumbar puncture
EEG
MRI

Question 15

what is the treatment of encephalitis

Answer 15

pre-emptive IV aciclovir

Question 16

when should you consider mengio-encephalitis

Answer 16

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

Question 17

what is meningitis

Answer 17

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

Question 18

what are the symptoms meningitis of

Answer 18

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

Question 19

what are the investigations of meningitis

Answer 19

lumbar puncture
CT 
blood culture
swab rash
throat swab

Question 20

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

Answer 20

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

Question 21

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

Answer 21

high ICP/ papilloadema
immunocompromised
new onset seizure
altered consciousness

do CT instead

Question 22

what is the treatment of meningitis? when is it given

Answer 22

given BEFORE lumbar puncture

cefotaxime + dexamethasone IV

Question 23

what is the treatment of meningitis if over 60

Answer 23

IV cefotaxime + dexamethasone IV + amoxicillin

Question 24

what is the treatment of meningitis if penicillin allergic

Answer 24

chloramphenicol + dexamethasone IV

Question 25

what is the contact prophylaxis treatment of meningitis

Answer 25

ciprofloxacin PO | rifampicin PO 12hrly x4

Question 26

what is aseptic meningitis

Answer 26

non-pyogenic bacterial meningitis

Question 27

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

Answer 27

CSF low WBC minimally elevated protein normal glucose

Question 28

what are the features of bacterial meningitis

Answer 28

thick layer of pus covering brain

Question 29

what is the common cause of bacterial meningitis in neonates

Answer 29

listeria group B strep E.coli

Question 30

what is the common cause of bacterial meningitis children

Answer 30

H. influenza

Question 31

what is the common cause of bacterial meningitis >65

Answer 31

strep pneumonia

Question 32

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

Answer 32

neisseria meningitis

Question 33

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

Answer 33

Chloramphenicol IV + dexamethasone IV + co-trimoxazole

Question 34

what is the treatment of meningitis caused by listeria

Answer 34

IV cefotaxime + dexamethasone IV + amoxicillin

Question 35

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

Answer 35

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

Question 36

who commonly gets cryptococcal meningitis

Answer 36

HIV patients

Question 37

what are the investigations for cryptococcal meningitis

Answer 37

CSF aseptic | serum and CSF cryptococcal antigen

Question 38

what causes TB meningitis

Answer 38

reactivation of TB

Question 39

what is a migraine

Answer 39

headache

Question 40

what is the causes of migraine

Answer 40

stress lifestyle triggers vascular & neural influences

Question 41

describe the diagnostic features of a migraine

Answer 41

at least 5 attacks lasting 4-72hrs 2 of: unilateral, throbbing pain, worse on movement 1 of: autonomic features, photophobia/phonophobia

Question 42

describe the diagnostic features of a migraine with aura

Answer 42

Aura fully reversible visual, sensory, motor or language symptom. lasts 20-60 mins headache follows <1hr/simultaneously

Question 43

what is the non-pharmacological treatment of migraine

Answer 43

stress management lifestyle headache diary

Question 44

what is the pharmacological treatment of migraine

Answer 44

NSAID = aspirin + naproxen + ibruprofen +/- antiemtic Triptans = 5HT agonist

Question 45

give examples of triptans used to treat migraine

Answer 45

rizatriptan, eletriptan | frovatriptan = sustained relief

Question 46

when would you consider prophylaxis treatment of migraine

Answer 46

if very severe or >3 attacks per month trail each drug for minimum of 3 months

Question 47

what drugs are used in the prophylaxis treatment of migraine

Answer 47

amitriptyline propranolol = AVOID ASTHMA/HF topiramate

Question 48

what are the symptoms of a tension type headache

Answer 48

pressing, tingling quality | NO nausea & vomiting, photophobia, phonophobia

Question 49

what is the treatment of a tension type headache

Answer 49

relaxation therapy anti-depressants reassure

Question 50

what are trigeminal autonomic cephalgias (TACs)

Answer 50

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

Question 51

what are the types of trigeminal autonomic cephalgias (TACs)

Answer 51

cluster paroxsymal hemicrania hemicrania continua SUNCT

Question 52

what are the symptoms of trigeminal autonomic cephalgias (TACs)

Answer 52

``` ptosis miosis nasal stuffiness nausea & vomiting tearing eye lid oedema ```

Question 53

what are the investigations of trigeminal autonomic cephalgias (TACs)

Answer 53

Brain MRI | MR angiogram

Question 54

what are the symptoms of a cluster headache

Answer 54

severe, unilateral headache lasting 40-90 mins | frequent (1-8 daily) for a few weeks/months

Question 55

what is the treatment of cluster headaches

Answer 55

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

Question 56

who is usually affected by cluster headaches

Answer 56

young males

Question 57

who is usually affected by paroxysmal hemicrania

Answer 57

elderly, usually women

Question 58

what is the symptoms of paroxysmal hemicrania

Answer 58

severe, unilateral headache with unilateral autonomic features lasting 10-30 mins occur 1-40 times a day

Question 59

what is the treatment for paroxysmal hemicrania

Answer 59

indomethicin = should have an absolute response

Question 60

What is SUNCT

Answer 60

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

Question 61

what is the treatment of SUNCT

Answer 61

lamotrigine | gabapentin

Question 62

who most commonly gets idiopathic intracranial hypertension

Answer 62

obese | females

Question 63

what are the symptoms of idiopathic intracranial hypertension

Answer 63

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

Question 64

what are the investigations of idiopathic intracranial hypertension

Answer 64

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

Question 65

what is the treatment of idiopathic intracranial hypertension

Answer 65

weight loss acetazolamide shunt monitor

Question 66

what are the symptoms of trigeminal neuralgia

Answer 66

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

Question 67

what is the investigation of trigeminal neuralgia

Answer 67

bran MRI

Question 68

what is the pharmacological treatment of trigeminal neuralgia

Answer 68

Carbamazepine Gabapentin Phenytoin Baclofen

Question 69

what is the non -pharmacological treatment of trigeminal neuralgia

Answer 69

surgery: ablation decompression