neuro

Question 0

night terror vs nightmare

Answer 0

night terror in early part of night and child has no recollection

Question 1

normal age for breath holding spells?
What is the pathophys
Possible tx?

Answer 1

about 1 yr: 6 mos-2yr
Always triggered
Would have tachycardia then brain hypoxia, then rare GTC
May treat with iron, but controversial

Question 2

recurrence of febrile sz

Risk of epilepsy

Answer 2

30% after 1st
50% after 2 or more

Epilepsy: about 1-2% (doubled risk)

Question 3

Avoid what meds in Dravet?

Answer 3

Na channelopathy, avoid Na channel blockers

Question 4

Na channel blockers

Answer 4

Phenytoin, Lamotrigine, Carbamaz, Oxcarbamaz

Question 5

What is Dravet?

Answer 5

SMEI

Question 6

Tx of JME?

Prognosis

Answer 6

VPA or topamax

Need to stop living the teenage life, but otherwise good prognosis on meds

Question 7

Topiramate side effects

Answer 7

cognitive

nephrolithiasis

Question 8

Bad AED combo…

VPA and what?

Answer 8

Lamotrigine (NO DEPAKOTE/LAMICTAL)

Question 9

commonest cause of CMT

Answer 9

demyelinating, duplication PMP 22 gene

Question 10

mechanism in Friedreich ataxia

when does it show up

Answer 10

GAA trinucleotide repeat expansion

shows up in latter half of 1st decade

Question 11

loss of ankle jerk and a babinski? What is it?

Answer 11

Friedreich ataxia (others don’t happen in kids: spinocerebellar degen and tabes dorsalis

Question 12

prevalence of migraine in adolescents

Answer 12

15%

Question 13

asymmetric crying faces
which side abnormal
other issues?

Answer 13

drooping side is normal, absent DAOM in 80%

check for heart prob (assoc anomaly)

Question 14

3 mutations in RETT

Answer 14

MECP2, CDKL5, FOX

Question 15

abnormal CBC< ataxic gait, oculocutaneous lesions?

High risk of what?

Answer 15

Ataxia telangiectasia

Risk for Hodgkins and leukemia

Question 16

immunologic issues in ataxia telangiectasia

Answer 16

T cell dysfunction, low Ig levels

Lots of respiratory tract infx

Question 17

which occurs in younger kids: Ataxia telangiectasia or Friedreich ataxia?

Answer 17

Younger: TA

Older FA: late childhood / early adol

Question 18

ataxia, high arch foot, no LE reflexes, DM, cardiomyopathy/CHF

Answer 18

Friedreich Ataxia

Fried Arch: cardiac / arch issues

Question 19

relationship between when sydenham chorea and strep occur?

Answer 19

chorea months after strep infx, after antistreptococcal ab titers have normalized

Question 20

chorea, hypotonia / rigidity, emotional lability

Answer 20

Huntington’s chorea

Question 21

how long must tics be present for Tourette’s dx

Answer 21

1 yr

Question 22

possible treatments for GBS ascending paralysis

Answer 22

IVIG or plasmapharesis. NOT steroids

Question 23

antibodies often present in myasthenia gravis?

Answer 23

anti smith Abs, anti-Acetylcholine receptor Abs

Question 24

congenital myasthenia gravis cause/prognosis?

Answer 24

lifelong from genetic defect of NMJ

Question 25

how to clinically distinguish between congenital MG and transient (6wk) MG?

Answer 25

transient does NOT involve eyes.

Question 26

how does botulinum toxin work?

Answer 26

blocks release of Ach from NMJ

Question 27

gene for DMD/Beckers?

Answer 27

xp21

Question 28

proportion of time in DMD that mom is a carrier?

Answer 28

2/3

Question 29

Steinart disease, also known as what? | What does it involve?

Answer 29

Myotonic Muscular Dystrophy | Involves smooth and striated muscle

Question 30

steroid treatment for spinal cord compression vs spinal trauma?

Answer 30

compression: dexamethasone Trauma: Methylprednisolone 30mg/kg x 1 hour

Question 31

why fosphenytoin compared to phenytoin?

Answer 31

phenytoin can produced purple glove syndrome (skin necrosis)

Question 32

% of kids who get febrile szs?

Answer 32

3% by 5th bday

Question 33

pedi boards use what drug to treat benign rolandic seizures?

Answer 33

carbamazepine

Question 34

tx for JME?

Answer 34

vpA

Question 35

most common risk factor for premies developing CP

Answer 35

perinatal infx

Question 36

New drug for Wilson's? What else for Tx?

Answer 36

Tridentine and give zinc

Question 37

Criteria for Lennox Gastaut and Rx

Answer 37

1. Many seizure types: Atonic, Tonic, GTC, absence atypical 2. DD / ID 3. Spike and slow wave on EEG Tx: Felbamate (Aplastic anemia), Banzel

Question 38

3-5 Hz spike and wave? | Tx?

Answer 38

JME | Tx: VPA, Lamictal

Question 39

HC rule?

Answer 39

35 at birth, then 3 mos/ 9 mos rule + 5cm each

Question 40

No more than what head growth per week in first three mos?

Answer 40

0.5cm / week

Question 41

retinal lacunes, agenesis of corpus callosum, vertebral anomaly

Answer 41

Aicardi syndrome

Question 42

SMA gene and chromosome

Answer 42

SMN 2 on chromosome 5

Question 43

anchoring of cord of conus medullaris due to thickened filum terminale Dx and what level

Answer 43

tethered cord, L2 or below

Question 44

defect in botulism | EMG finding

Answer 44

1. no release of ACh | 2. EMG incremental response to repetitive rapid stim

Question 45

neonatal vs congenital myasthenia

Answer 45

Neonatal is transient and does NOT involve opthalmoplegia

Question 46

EMG with decrement with repetitive stim

Answer 46

myasthenia

Question 47

CTG repeat on chr 19 with anticipation

Answer 47

myotonic dystrophy

Question 48

features of what: | Frontal baldness, endocrine issues, cataracts, cognitive

Answer 48

Myotonic dystrophy

Question 49

Rx for myotonic dystrophy

Answer 49

mexilitine, phenytoin, carbamazepine

Question 50

weakness pattern in nemaline myopathy

Answer 50

neck, face, proximal muscles

Question 51

marker for ataxia telangiectasia

Answer 51

high AFP

Question 52

NF1 chromosome | TS chromosomes

Answer 52

NF: 17 TS: 9., 16

Question 53

tram track calcifications on XR/CT?

Answer 53

Sturge Weber under angioma