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neurology > pediatric neurology > Flashcards

pediatric neurology Flashcards

1
Q

complications of Topiramate in baby

A

cleft lip

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2
Q

frederich ataxia features

A

dysarthric speech, head thrusts w/ visual tracking, past-pointing on FNF test, disoragnization of rapid pronation-supination of hand, jerky and illegible handwriting, lurching gate, no DTR. presents at 2-16 yrs old

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3
Q

absence seizure presentation

A

abrupt onset/offset, w/ automatisms like jerks of arms and eye blinking, less than 30 sec, multiple daily

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4
Q

absence EEG

A

3 Hz symmetric spike or multiple spike and wave complexes

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5
Q

treatment for absence seizures

A

ethosuximide, valproate, lamotrigine

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6
Q

characteristic of alternating hemiplegia of childhood

A

episodic hypotonia, lateralized weakness, episodic dystonia lasting minutes to days with underlying global developmental delay

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7
Q

EEG of alternating hemiplegia of childhood

A

NORMAL

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8
Q

cause of alternating hemiplegia of childhood

A

mutation in gene relating to Na/K ATPase channel (ATP1A3); but NOT always, must diagnose clinically. can have spontaneous mutations causing dz

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9
Q

ATPase channel ATP1A3 associated with which dzs

A

alternating hemiplegia of childhood, rapid onset dystonia/parkinsonism, episodic ataxia, cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (CAPOS)

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10
Q

7 criteria for alt hemiplegia of childhood

A
  1. onset prior to 18mos
  2. repeated episodes R or L sides of body
  3. episodes B/L hemiplegia
  4. other paroxysmal disturbances like tonic/dystonic attacks, nystagmus, strabismus, dyspnea, other autonomic phenomena during hemiplegic attacks or in isolation
  5. immediate disapearance of sympons when sleeping with recurrence 10-20 min after waking
  6. underlying developmental delay, learning disability, neuro abnormalities, choreoathetosis, dystonia, ataxia
  7. no other disorder
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11
Q

symptoms preceding onset of alt hemiplegia of childhood

A

MC hypotonia, floppiness and abn eye mvmts

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12
Q

treatment for alt hemiplegia of childhood

A

sleep, can trial benzos (midazolam) or maybe flunarizine (blocks Ca channels)

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13
Q

characteristics of benign neonatal sleep myoclonus

A

starts in term babies <2 wks old, ONLY occur during sleep, involve ALL extremities. EEG normal. pt will outgrow

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14
Q

characteristics of benign rolandic epilepsy aka BECTS (benign epilepsy w/ centrotemporal spikes)

A

nocturnal focal or secondarily generalized seizures w/ diurnal partial seizures

onset b/w 7-8 yo, M>F. commonly have motor impairment of face and motor aphasia with no impaired consciousness

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15
Q

seizure characteristics in BRE

A

most often at night, with clonic movements of mouth w/ salivation and gurgling sounds in throat w/ 2/2 generalization. UNCOMMON to have postictal confusion or amnesia. if they do occur during the day they are typically motor aphasia with no impaired consciousness

seizures are NOT frequent, and do not often go into SE

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16
Q

treatment of BRE

A

sometimes you dont treat; if you do use: Keppra, lamotrigine, phenobarb, topamax, carbamazepine, oxcarb, valproic acid.

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17
Q

EEG findings BRE (interictal)

A

high amplitude diphasic spike w/ predominent slow wave. spike or sharp waves appear singly or in groups in midtemporal T3/T4 and central region C3/C4

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18
Q

development of BRE

A

most kids have remission by teenage years, do have delay in visual, auditory processing and memory deficits; sometimes these improve with remission of seizures

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19
Q

anoxic reflexive epilepsy

A

kiddos can have breath holding spells and tonic posturing and convulsions (non epileptic) but then can progress to true epilepsy and have anocix reflecive epilepsy which can last longer than minutes

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20
Q

etiology of pallid infantile syncope aka breath holding spells

A

ocular pressure, you can even reproduce it by giving ocular compression which would then cause bradycardia, asystole and EEG slowing; check for underlying cardiac abnormalities and iron levels (mc in anemic kids)

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21
Q

test to get for breath holding spells

A

EKG and CBC to check Hgb

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22
Q

panayiotopoulos syndrome

A

common childhood epilepsy, ages 3-6, M=F, seizures last 20-60 mins, autonomic characteristic (pale, vomit, sweat, drool, pupils dilate) followed by atonic or TC movements, sometimes only one in lifetime or several per yr, MC occur in sleep

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23
Q

EEG findings in panayiotopolus syndrome

A

often normal otherwise paroxysmal spike and sharp waves MC in occipital region but can be anywhere

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24
Q

late onset version of panayiotopolus

A

is called gastaut which is brief seizures with mainly visual symptoms (hallucinations, illusions, amaurosis) then hemiclonic convulsions followed by postictal HAs.

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25
Q

interictal EEG findings in gastaut syndrome

A

normal background w/ well defined occipital discharges (U/L or B/L), increased during non-REM, as SOON as eyes open the EEG is normal, then resume abnormalities 1-20 sec after eyes close !!

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26
Q

prognosis of Gastaut syndrome

A

generally kids have persistent seizures into childhood

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27
Q

nocturnal emesis ddx

A

nighttime seizures vs posterior fossa tumor; need imaging

28
Q

treatment for panayiotopolus/Gastaut syndrome

A

generally no AED HOWEVER once child has >3 events that last >10 min consider AED (generally Keppra and rescue med)

29
Q

characteristic and workup for febrile seizure

A

3mos-5yo, with fever, GTC seizure lasting <15 min.

get CBC w/ glucose, spinal tap, find cause of infection

no need for imaging or EEG

30
Q

risk of developing epilepsy in febrile seizure

A

low, however some evidence of febrile SE can cause hippocampal swelling and then sclerosis over time

31
Q

treatment for febrile seizure

A

underlying infection, then no AED indicated however can send parents home with rectal diazepam for prlongued seizures

32
Q

infantile spasms aka West syndrome triad

A

tonic/myoclonic spasms, hypsarrhythmic EEG and mental retardation

33
Q

all the names for west syndrome

A

infantile spasms, salaam seizures, flexion/flexor spasm, jackknife seizures, massive myoclonic jerks

34
Q

characteristic of infantile spasm

A

in kiddos beginning <2yo, frequently associated with developmental arrest or regression, earlier treatment is better prognosis.

trunk flexion and extension of arms multiple times daily in sets of 6-12 spasms

35
Q

EEG in infantile spasm

A

hypsarrhythmia (which is high amplitude slow waves mixed with spikes and sharp waves whose amplitude and topography vary in an asynchronous manner B/L. background is disorganized and chaotic. during sleep has bursts of polyspike and slow waves. during REM can have diminution or complete disappearance of hypsarrhythmic pattern

36
Q

workup for infantile spasm

A

EEG, MRI b, skin check

37
Q

common cause of West syndrome (infantile spasm)

A

tuberous sclerosis

38
Q

MRIb findings for tuberous sclerosis

A

periventricular and cortical tuber

39
Q

treatment of west syndrome

A

ACTH or vigabatrin (pts with TS respond better to vigabatrin)

40
Q

JME characteristics

A

early teenage years, early morning timing, provoked by sleep deprivation. mild myoclonic episodes or GTCs/CTC seizures, occasionally absence. the myoclonic jerking usually neck/shoulders/arms cause dropping of items.

41
Q

JME EEG

A

interictal is 3.5-6Hz spike and wave with multiple spike-wave complexes. intermittent bursts of generalized, fast spike and wave activity of 4 Hz lasting less than 3 seconds

42
Q

genetics of JME

A

arent really any, though is familial

43
Q

treatment of JME

A

Keppra/Valproate > Lamotrigine then Clonazepam dissolvable tablets for flurries of myoclonic seizures. do not always need to be started on ASM after only one seizure however if they are having lots of myoclonic events then yes start

44
Q

workup for JME

A

good history, EEG, imaging not needed; though if pt has GTCs then usually end up getting one

45
Q

counseling for JME

A

avoid sleep deprivation, and heavy etoh use

46
Q

prognosis of JME

A

20% of pts go into remission and can come off of ASMs

47
Q

first line for LGS

A

Valproic acid

48
Q

test for Freichrichs ataxia

A

test for trinucleatide repeat (GAA) on FXN gene on chrom 9

49
Q

MRI findings in freidrichs ataxia

A

atrophic cerebellum, brainstem, postrior columns, corticospinal tract

50
Q

inheritance of niemann Pick dz

A

AR assoc w/ HSM, impaired STORAGE of sphingomyelin and cholesterol

51
Q

types A and B of Neimann Pick dz are caused by what

A

acud sphingomyelinase deficiency so foam cells accumulate with sphingomyelin in the reticuloendothelial system

52
Q

exam features of Niemann pick dz

A

cherry red macula, HSM, rapid progressing neuro deficits (hypotonia, absent DTRs, loss early motor skills) lots of time also have respiratory issues dt sphingomyelin build up in pulmonary macrophages

death at 19-35 mos

53
Q

prader willi criteria

A
  1. neonatal/infantile hypotonia
    2 feeding difficulties in infancy
    3/ excessive wt gain
    4 hyperphagia
  2. hypogonadism
  3. gloval developmental delay w/ mild-mod intellectual disability
54
Q

angelman syndrome genetics

A

deletion of MATERNAL chromosame gene

55
Q

what is anencephaly?

A

failure of the anterior neural tube to close which causes failure of frontal and parietal bones to form

incompatible with life, MC F>M. typically hypothalamus is missing and there are malformations of eyes and face

56
Q

meningocele and myelomeningocele are d/t ?

A

failure of posterior neuropore to close

57
Q

what is alexander dz

A

group of neuro diseases referred to as LEUKODYSTROPHIES which affect CNS WM d/t defects in synthesis or maintenance of myelin sheath that insulates the nerves

assoc with rosenthal fivers which are healine eosinophilic rods

58
Q

canavan dz about

A

AR, progressive damage to nerve cells in brain and MC cause of degenerative cerebral diseases of infancy

59
Q

pathophys of adrenoleukodystrophy

A

X linked, breakdown or loss of myelin in brain and progressive dysfunction of adrenal gland

60
Q

zellweger syndrome is ?

A

reduction/absence of functional peroxisomes in cells. type of leukodystrophy

61
Q

methylmalonic acidemia is when…

A

body cannot break down certain proteins (LIKE VALINE, isoleucine, threonine, methionine ie branched amino acids) and fats which results in buildup of MMA in blood, familial presents with vomiting, dehydration, hypotonia, developmental delay, lethargy, hepatomegaly, FTT typically leads to coma/death if untreated

vit B12 is a cofactor. AR.

62
Q

what is heterotopia

A

group of normal neurons that migrated abnormally and ended up in the wrong area of the brain. ERROR IN MIGRATION

63
Q

periventricular heterotopia is caused by

A

normal neurons that are in the wrong area and preents with dyslexia and focal epilepsy

64
Q

what part of brain is affected in neonatal HIV

A

BG, can also have HSM, Bone marrow failure, lymphocytic interstitial PNA, chronic diarrhea, FTT, microcephaly, BG calcifications !

65
Q

how is HIV transmitted from mom to baby

A

placental transmission, perinatal exposure, breastfeeding

66
Q

if baby is HIV positive…

A

~20% of babies will have rapidly progressive course with death in infancy

67
Q

symptoms of congenital HIV

A

presents 2 mos - 5 yo and present with developmental regression, microcephaly,, dementia, spasticity, ataxia, pseudobulbar palsy, movement disorders, myoclonus, seizures. death within a few months of onset

neurology (13 decks)

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