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Peds Patho > Neuro > Flashcards

Neuro Flashcards

learn so much!! :) :)

1
Q

injuries to the CNS can be caused by:

A

trauma, seizures, brain tumor

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2
Q

respiratory failure s/t CNS disease can be caused by:

A

Guillian-Barre, Botulism, Myasthenia Gravis

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3
Q

we classify neuro diseases in 3 ways:

A

1) by age of presentation
2) by location in Neuraxis
3) By etiology (genetic or acquired)

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4
Q

3 types of acquired neuro disease:

A

1) infectious
2) malignant
3) autoimmune

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5
Q

2 types of genetic neuro diseases:

A

1) structural/developmental (malformation)
2) metabolic
- -> storage
- -> enzymatic insufficiency

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6
Q

4 classic groups of neuro conditions:

A

1) Degenerative diseases of the brain
2) degenerative diseases of the spinal cord, nerve, or muscle
3) neurocutaneous diseases
4) syndromes including mental retardation, autism, or learning disabilities as features

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7
Q

what group of neuro conditions causes progressive weakness as its dominant system?

A

degenerative diseases of the spinal cord, nerve, or muscle

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8
Q

neurocutaneous diseases

A

a heterogenous group of diseases in which a neurologic problem is coupled with a skin finding

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9
Q

are degenerative diseases of the brain common?

A

no! rare

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10
Q

is Tay-Sachs disease becoming more common?

A

no! becoming rarer due to premarital/prenatal screening programs

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11
Q

degenerative diseases of the brain are classified in 4 ways:

A

1) Brain area involved:
- -> white matter (leukodystrophy)
- -> grey matter (poliodystrophy)
2) Biochemical Pathway:
- -> what enzyme is dysfunctional?
- ->what substance accumulates?
3) Age of onset & non-neurologic (liver, bone marrow) features
4) Mode of inheritance

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12
Q

degenerative disease of white matter of brain

A

leukodystrophy

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13
Q

degenerative disease of grey matter of brain

A

poliodystrophy

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14
Q

are x-linked diseases recessive?

A

yes: dominant & recessive

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15
Q

X-ALD

A

an x-linked disorder:
A: adrenal
L: leuko
D: dystrophy

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16
Q

who does X-ALD affect?

A

only males in classic form

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17
Q

why aren’t females affected by X-ALD?

A

because females have 2 copies of the gene, and 1 is sufficient

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18
Q

X-ALD affects what part of the brain?

A

affects white matter of the brain

–> progressive cognitive decline

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19
Q

most dangerous feature of X-ALD?

A

loss of adrenal function: adrenal insufficiency

seizures can also be dangerous

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20
Q

typical presentation of X-ALD?

A

late preschool/early school-age boys:
loss of visual followed by loss of other skills
–difficulty recognizing things

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21
Q

how does X-ALD spread?

A
  • -begins posteriorly and contiguously spreads to anteriorly
  • -leading edge is inflammatory
  • -> spread of inflammation from already involved areas
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22
Q

what happens as X-ALD spreads anteriorly?

A

additional deficits develop, includ. language comprehension

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23
Q

typical early sx of X-ALD?

A
  • -cortical blindness

- -visual agnosia

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24
Q

visual agnosia

A

deficiency in recognizing visual objects

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25
Q

what may parents report as main issue in kid w/X-ALD?

A

poor or declining school function, esp. as early school yrs are the most common age of onset

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26
Q

other effects/sx of X-ALD?

A
  • -bronzing of the skin
    • -> bc adrenal disease is peripheral
  • -seizures may occur
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27
Q

tx for X-ALD:

A
  • -steroid replacement therapy
  • -bone marrow transplant (BMT) since 1984
  • -Lorenzo’s Oil
  • -transplant of pt’s own cells
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28
Q

Lorenzo’s Oil

A

a combination of erucic acid and oleic acid

  • -used in tx of neuro disease (is a mixture of fatty acids)
  • -currently only available as part of clinical trial
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29
Q

effects of Lorenzo’s Oil?

A
  • -corrects VLCFA levels in the blood, but not in the brain
  • -does not alter course of disease after onset of sx
  • -may delay sx of some presymptomatic pts
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30
Q

VLCFA

A

very long chain fatty acids

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31
Q

how does BMT work as tx for X-ALD?

A

–can replace macrophages, which constantly turn over in the blood; cross BBB & microglia in the brain
–now at least 1 working cell in the brain to break these down
–won’t reverse but will arrest disease at that point
(can prevent the progression of disease when done at an early age before clinical signs develop)

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32
Q

X-ALD: short definition (what happens, what is affected)

A

a genetically-determined d/o assoc. w/the accumulation of saturated VLCFA & a progressive dysfunction of the adrenal cortex and central & peripheral nervous system white matter

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33
Q

should we refer if a child has a mild delay w/out other features?

A

mild delay w/out other features has a low yield for neuroimaging & metabolic workup

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34
Q

red flags for neuro referral:

A

1) other organs involved (liver, bone, eyes)
- -> ex: loss of vision in addition to cognitive changes
2) clearly worsening

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35
Q

how can we determine if there is regression w/X-ALD?

A
  • -pattern can be a useful clue (acute intermittent vs. chronic progressive)
  • -decline slow & steady or periods of decline/better?
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36
Q

does newborn screening for diseases such as X-ALD mean that we’ll know right away if a kid has it?

A

no: bc the newborn screen is tested biochemically, not DNA

- -so kid could still have the disease, it just isn’t manifesting yet

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37
Q

what makes up the motor unit?

A

motoneuron in the spinal cord, w/its nerve & muscle:

1) a motor neuron in the brainstem or ventral horn of the spinal cord
2) its axon, which together w/other axons, forms the peripheral nerve
3) the NMJ
4) all muscle fibers innervated by a single motor neuron

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38
Q

3 categories of diseases of the motor unit:

A

1) motoneuronopathies
2) neuropathies
3) myopathies

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39
Q

all diseases of the motor unit ultimately cause:

A

–flaccid weakness of the relevant limb(s) or axial musculature

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40
Q

example of motoneuronopathy

A

Werdnig-Hoffman Disease (SMA Type 1)

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41
Q

SMAs are what type of genetic d/o?

A

autosomal recessive

–d/t mutation of the “survival motor neuron” or SMN gene

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42
Q

early form of motoneuronopathy?

A

Werdnig-Hoffman Disease/SMA Type 1

–intelligence & eye movements are spared`

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43
Q

w/ SMA, are upper motor neurons affected?

A

no: upper motor neurons remain normal

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44
Q

SMA Type 1 is aka:

A

Werdnig-Hoffman Disease

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45
Q

SMA Type 1

A

severe infanile form of SMA

aka Werdnig-Hoffman Disease

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46
Q

cardinal features of SMA Type 1:

A
  • -severe hypotonia
  • -generalized weakness
  • -thin muscle mass
  • -absent reflexes
  • -involvement of the tongue, face, & jaw muscles
  • -sparing of extraocular muscles & sphincters
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47
Q

infants w/SMA Type 1 at birth may experience:

A

respiratory distress, & be unable to feed

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48
Q

is the heart involved in SMA?

A

no, heart is spared

–intelligence is also spared!

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49
Q

fingers of children w/SMA show:

A

characteristic tremor owing to fasciculations & weakness

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50
Q

are myalgias involved w/SMA?

A

no! myalgias are not a feature of SMA

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51
Q

what is spared w/SMA?

A

intelligence & eye movements

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52
Q

SMA is due to mutation of what gene?

A

SMN gene
(“survival motor neuron”) –> is needed for MN to survive!
–SMN arrests apoptosis of motor neuroblasts

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53
Q

difference between diff. types of SMA?

A

severity

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54
Q

main difference b/t upper and lower motor neuron disorders?

A

hyper vs. hypotonia

  • -hypertonia w/upper motor neuron d/o
  • -hypotonia w/lower motor neuron d/o –> SMA
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55
Q

example of upper motor neuron d/o

A

cerebral palsy

–often d/t cortical injury or white matter problem

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56
Q

another term for hypotonic

A

“floppy”

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57
Q

alpha motor neurons:

A

part of the motor unit:

  • -large lower motor neurons of the brainstem and spinal cord
  • -innervate extrafusal muscle fibers of skeletal muscle and are directly responsible for initiating their contraction
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58
Q

what makes up the motor unit?

A

motor nerve @ NMJ (neuromuscular junction) –> muscle –> feedback through sensory route
= the functional unit of muscle contraction and includes the motor nerve fiber and the muscle fibers it innervates

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59
Q

acute neuro disease is often caused by:

A

infection (polio, Guillain-Barre, botulism, viral myopathies)

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60
Q

chronic neuro disease is often caused by:

A

typically degenerative disease (SMA, Charcot Marie Tooth, Myasthenia Gravis, DMD)

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61
Q

hypertonic means that:

A

muscles can’t relax

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62
Q

acute disease of the alpha motor neuron:

A

polio

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63
Q

acute disease of the motor nerve:

A

Guillain-Barre

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64
Q

acute disease of the NMJ:

A

botulism

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65
Q

acute disease of motor unit:

A

viral myopathies

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66
Q

chronic disease of the alpha motor neuron:

A

SMA

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67
Q

chronic disease of the motor nerve:

A

Charcot Marie Tooth

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68
Q

chronic disease of the NMJ:

A

myasthenia gravis

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69
Q

chronic disease of the motor unit:

A

DMD

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70
Q

w/ Werdnig-Hoffman Disease, what will you see upon physical exam?

A

bell-shaped chest

  • -bc diaphragm is stronger than the intercostal muscles
  • -consequence of chest wall weakness
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71
Q

is bell-shaped chest seen w/SMA Type 1 a malformation?

A

no–not a malformation, just a consequence of the disease

–consequence of chest wall weakness

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72
Q

w/what disease do you see a bell-shaped chest?

A

Werdnig-Hoffman Disease
(SMA Type 1)
–consequence of chest wall weakness

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73
Q

most common lethal heritable disease of childhood?

A

SMA-1

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74
Q

arthrogryposis

A

joint contractures

–seen w/SMA-1, caused by hypotonia

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75
Q

SMA-1 usually presents as:

A

progressive weakness & hypotonia in the first several mos. of life
–can also be already present at birth

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76
Q

most severe form of SMA?

A

SMA-0

–onset before birth

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77
Q

other signs of SMA-1, d/t immobility:

A
  • -an unusually straight spine
  • -hair loss
  • -plagiocephaly
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78
Q

plagiocephaly

A
  • -also known as flat head syndrome
  • -characterized by an asymmetrical distortion (flattening of one side) of the skull
  • -seen w/SMA-1, d/t immobility
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79
Q

other signs of SMA-1:

A
  • -tongue fasciculations

- -polyminimyoclonus

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80
Q

polyminimyoclonus

A

finger twitching movements

–seen w/SMA-1

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81
Q

reflexes are absent w/what disease?

A

SMA-1

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82
Q

are EMG & biopsy needed for suspected SMA cases w/classic clinical picture?

A

no; are unnecessary in typical cases

–genetic testing is confirmatory

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83
Q

how does SMN-2 differ from SMN?

A

in a single base pair in exon 7

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84
Q

what happens w/exon 7 and SMN-2?

A

most SMN-2 are alternatively spliced

–> exon 7 is omitted –> the resulting protein is non-functional

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85
Q

what is the primary factor determining SMA type & severity?

A

the amount of residual SMN-2 activity

***the amt. of SMN-2 that is fully truncated & transcribed

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86
Q

what process occurs w/SMA in regards to deterioration?

A
  • -an ongoing competition b/t:
    1) processes attempting recovery/amelioration
    2) progressive loss of alpha motor neurons
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87
Q

how does the body attempt recovery or amelioration w/SMA?

A

by renervation of denervated muscle from surviving axons

–> leads to fiber-type grouping

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88
Q

ultimately, what happens w/SMA?

A

neuron loss becomes overwhelming

–> causes muscle atrophy & paresis

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89
Q

process by which DNA creates a protein?

A

DNA –> RNA, by transcription
RNA –> final mRNA, by splicing
final mRNA –> expressed protein, by translation

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90
Q

how do drugs work in SMA therapy?

A

the drug binds to mutated, defective part of pre-mRNA

  • -> skips this part, so it still makes an effective protein
  • -> causes defective part of SMA-2 to not be taken seriously
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91
Q

do neuropathies include motor, sensory, or autonomic nerves?

A

it varies!

also vary in severity

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92
Q

muscular dystrophies are part of what larger disease group?

A

myopathies

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93
Q

muscular dystrophies are characterized by:

in regards to muscle

A

degeneration-regeneration of muscle
–st resulting in pseudohypertrophy
(muscle not only dysfunctional, but there is degeneration)

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94
Q

single most common muscular dystrophy?

A

Duchenne’s

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95
Q

the muscular dystrophies differ in:

A

distribution of affected muscle

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96
Q

pseudohypertrophy

A
  • -enlarged muscles of the calves, buttocks, and shoulders (around age 4 or 5)
  • -muscles are eventually replaced by fat and connective tissue
  • *see enlarged calf muscles in kids w/DMD as it progresses w/age
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97
Q

Duchenne’s is what type of genetic disease?

A

X-linked

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98
Q

DMD particularly affects which muscles?

A

proximal muscles

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99
Q

is intelligence affected w/DMD?

A

yes: mild learning or attentional issues may be present

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100
Q

what is highly elevated w/DMD?

A

CK

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101
Q

DMD clinical course:

A

–gradually lose ambulation

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102
Q

most famous physical sign of DMD?

A

Gowers’ Sign/maneuver

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103
Q

lordosis

A

an increased curving of the spine

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104
Q

how is spine affected w/DMD?

A 
marked lordosis (increased curving of the spine)
--disappears when child sits
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105
Q

why does child w/DMD do Gowers’ maneuver?

A

bc of weakness in gluteal & spinal muscles

  • -child arises from prone position by pushing himself up w/hands successively on floor, knees, & thighs
  • -then stands in lordotic posture
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106
Q

LGMD

A

limb girdle muscular dystrophies

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107
Q

most common LGMD?

A

DMD

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108
Q

DMD progresses to:

A

loss of ambulation, resp. & cardiac failure

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109
Q

is DMD a good target for gene therapy?

A

no–technology is not advanced enough

–longest gene, w/79 exons

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110
Q

85% of DMD cases arise from:

A

substitution or deletion of DMD gene that codes for dystrophin protein
–> alters the reading frame

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111
Q

deletions or point mutations that leave the reading frame open in most cases yield which type of dystophy?

A

the Becker phenotype

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112
Q

characteristics of Becker phenotype of muscular dystrophies:

A

–maintained ambulation in teen years & normal longevity

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113
Q

dystrophin & DMD:

A

–DMD is caused by a defective gene that codes for dystrophin
(caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin)
(dystrophin = a protein in the muscles)
– you need contractility & anchoring (–> missing w/DMD)

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114
Q

one of the first things parents notice in their kid w/DMD:

A

duck-like gait

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115
Q

occurrence of SMA/DMD/ALD:

A

SMA: 1 in 3000 kids
DMD: 1 in 3000 boys
ALD: 1 in 10,000 boys

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116
Q

do you lose reflexes w/DMD?

A

not all!

  • -lose knee reflexes 1st
  • -then ankle reflexes
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117
Q

only muscular dystrophies that are x-linked?

A
  • -DMD

- -Becker’s

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118
Q

3 characteristics of neurocutaneous disease:

A

1) most hereditary, some sporadic
2) heterogeneous
3) involve genes expressed in both skin & Nervous system, esp. control of cell replication

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119
Q

classic neurocutaneous disease:

A

Tuberous Sclerosis

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120
Q

most of morbidity in Tuberous Sclerosis is d/t:

A

neurologic disease

although it involves almost every organ

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121
Q

4 skin manifestations found in Tuberous Sclerosis:

A

1) Shagreen patch
2) Ash leaf spot
3) Adenoma sebaceum
4) Peri-ungal & sub-ungal fibromas

122
Q

which skin manifestation of Tuberous Sclerosis if often present at birth?

A

ash leaf spot

123
Q

3 other organ abnormalities found w/Tuberous Sclerosis?

A

1) Cardiac: Rhabdomyomas
2) Pulmonary: Lymphangiomyomatosis
3) Kidneys: Angiomyolipomas

124
Q

Rhabdomyoma

A
  • -benign tumor of striated muscle

- -seen in Tuberous Sclerosis

125
Q

Lymphangiomyomatosis

A
  • -an abnormal proliferation of smooth muscle cells throughout the interstitium of the lung
  • -seen in Tuberous Sclerosis
  • -esp. in girls: get more lung involvement
126
Q

Angiomyolipomas

A
  • -common benign tumor of the kidney
  • -composed of blood vessels, smooth muscle cells and fat cells
  • -seen in Tuberous Sclerosis
127
Q

w/Rhabdomyoma in Tuberous Sclerosis, you must be careful that:

A

they don’t cause arrythmias

128
Q

3 types of CNS tumors seen w/Tuberous Sclerosis:

A

1) Tubers (Astrocytic Hamartoma)
2) Sub-Ependymal Giant Cell Astrocytomas (SEGAs)
3) Sub-ependymal Nodules

129
Q

2 neuro manifestations w/Tuberous Sclerosis:

A

1) Seizures (>80%)

2) Mental retardation (50%)

130
Q

most common initial presenting sx w/TS?

A

seizures

    • > 90% presenting complaint in symptomatic TS
    • often refractory
    • infants: infantile spasms
131
Q

what predicts bad cognitive outcome w/TS?

A

refractoriness of seizures

132
Q

autism & Tuberous Sclerosis:

A
    • 25% of pts w/TS have autism

- - 40-50% meet dx criteria w/in the autism spectrum

133
Q

risk factors for cognitive impairment w/TS?

A
  • -early-onset seizures

- -increased tuber burden

134
Q

genetics of TS

A
  • -either of 2 diff. genes lead to same disease

- -no way to tell which one

135
Q

example of an Autism Spectrum Disorder?

characteristics?

A

Rett’s:

  • -x-dominant, w/male lethality
  • -besides autism, features include: acquired microcephaly, hand wringing
  • -1 gene accts. for 85% of cases; another gene for the remainder
136
Q

3 common neuro problems in childhood:

A

1) Cerebral Palsy
2) Headache
3) Seizures

137
Q

cerebral palsy

A
  • -any abnormality of motor function
    • -> movement, tone, gait
  • -d/t an early-onset, nonprogressive cause
138
Q

is cerebral palsy progressive?

A

no! is nonprogressive

–although some sx may manifest later

139
Q

definition of Cerebral Palsy is nonspecific in regards to:

A
  • -cause
  • -severity
  • -distribution
    • and no mention of mental impairment, which may or may not be present
140
Q

what does “nonprogressive” refer to in regards to CP?

A

–refers to etiology! not manifestations

141
Q

6 causes of cerebral palsy:

A

1) genetic syndromes
2) cerebral malformations
3) intrauterine infections (TORCH, chorioamnionitis)
4) placental disorders
5) perinatal asphyxia
6) early post-natal events (intraventricular hemorrhage)

142
Q

do most cases of perinatal asphyxia result in CP?

A

no!

and, most cases of CP had unremarkable deliveries

143
Q

an infant will have a higher risk of CP if:

A

Apgar at 5 min was 4 or less

144
Q

what types of babies make up CP babies?

A
  • -full-term babies are the majority
  • -very-low-birth-weight babies are a higher %age than in the past: d/t improved survival
  • *generally, we’ve improved survival better than neuroprotection…w/the exception being kernicterus, which we’re good at preventing!
145
Q

6 patterns/types seen w/CP:

A

1) Spastic
2) Choreoathetotic
3) Ataxic
4) Dystonic
5) Ballismic
6) Mixed

146
Q

spastic

A
  • -relating to or affected with spasms

- -seen w/CP

147
Q

Choreoathetotic

A
  • -the occurrence of involuntary movements in a combination of chorea (irregular migrating contractions) and athetosis (twisting and writhing)
    • kid is moving too much: more than they should be
  • -seen w/CP
148
Q

Ataxia

A
  • -uncoordinated movement due to a muscle control problem that causes an inability to coordinate movements
  • -seen w/CP
  • *incoordination, esp. of timing assoc. w/cerebellar injury
149
Q

Dystonic movements

A
  • -a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures
    • may be task-dependent
150
Q

ballismic movements

A

–repetitive, but constantly varying, large amplitude involuntary movements of the proximal parts of the limbs
(sudden, jerky movements)
–seen w/CP

151
Q

Mixed CP

A
  • -a combination of two or three of the other types
  • -is most often a combination of spastic and athetoid cerebral palsy, which results in stiff muscle tone and involuntary movements.
152
Q

another way to classify CP:

A

by limbs affected:

  • -hemiplegia
  • -diplegia
  • -tetraplegia
153
Q

athetosis

A
  • -twisting and writhing

- -seen in CP

154
Q

what do you see w/ataxic CP?

A
  • -wide gait
  • -tendency to fall
  • -inability to walk straight line
155
Q

what do you see w/spastic CP?

A
  • -spastic quadriplegia:

- -> characteristic “scissors” position of lower limbs d/t adductor spasm

156
Q

talipes equinovarus

A

clubfoot

  • -can be seen w/CP diplegia: lower limbs more affected
  • -also: contractures of knees & hips
157
Q

spasticity is a form of:

A

hypertonia

158
Q

2 characteristics of spasticity:

A

1) resistance increases w/ speed & varies w/direction

2) resistance rises rapidly above a threshold speed or joint angle

159
Q

spasticity is what type of sign?

A

an upper motor neuron sign

–typically accompanied by hyperreflexia

160
Q

spasticity is d/t lesion located where?

A

–pattern seen from lesion anywhere in the pyramidal tract

161
Q

spinal cord tone is regulated by:

A

brainstem centers acting on spinal motoneurons

162
Q

lesions in pyramidal tract cause:

A

disinhibition –> increased tone

usually the pyramidal tract inhibits these types of spastic movements!

163
Q

weakness originating at a lower motor neuron (spinal level) will result in:

A

decreased tone

164
Q

chorea

A

= fast

165
Q

athetosis

A

= writhing

166
Q

pyramidal lesions can cause:

A
  • -spastic hemiplegia: increase in tone on one side
  • -pronator drift
  • -external rotation
167
Q

choreoathetotic movements in CP are assoc. w/?

A

basal ganglia injury

168
Q

is a strong hand preference before age 2 normal?

A

no! red flag!

169
Q

in kids w/CP & spastic hemiplegia, will you see the asymmetry from birth?

A

no: may not be apparent in first few mos.

strong hand preference in kid <2 yrs may be 1st indication

170
Q

disability assoc. w/spasticity in CP:

A
  • -loss of dynamic range

- -development of contractures which is further limiting

171
Q

treatment of spasticity w/CP:

A

ideally: would want to recover full dynamic range
–but is difficult!
–can obtain some benefit by changing where the tone is centered
(lowering tone overall may be useful if someone is so contracted they can’t move…)

172
Q

7 tx modalities of CP:

A

1) physical therapy (passive or active ROM)
2) occupational therapy
3) special accomodation
4) orthotics
5) meds: Baclofen, Klonopin
6) procedural: Botox
7) surgery

173
Q

2 surgeries used in CP tx:

A

1) Baclofen Pump

2) Dorsal rhizotomy

174
Q

dorsal rhizotomy

A

surgical tx for CP:
–by examining electromyographic (EMG) responses from muscles in the lower extremities, the surgical team identifies the rootlets that cause spasticity. The abnormal rootlets are selectively cut, leaving the normal rootlets intact. This reduces messages from the muscle, resulting in a better balance of activities of nerve cells in the spinal cord, and thus reduces spasticity

175
Q

purpose of meds used in CP tx:

A

to decrease tone: Baclofen & Klonopin

  • -both have GABAergic effects (enhance inhibition)
  • -both are sedating, but Klonopin more so
  • -Klonopin is anticonvulsant but controlled
176
Q

downsides to CP meds:

A

can also decrease strength

–weigh costs/benefits

177
Q

intrathecal Baclofen pump system

A
  • -internal portion can be accessed transdermally for refilling
  • -can be good solution: delivers med into the spinal fluid, so lower extremities get higher dose than upper & the brain
    • -> less sedating!
178
Q

are headaches common?

A

yes: extremely common

179
Q

another extremely common sx in children, besides headache?

A

abdominal pain

180
Q

2 main considerations in dealing w/headache in a child?

A

1) when to worry/image

2) how to manage chronically

181
Q

w/headache: when to worry/image…do we scan everybody?

A 
no:
only if phys. exam/inspection has indications for scanning
--> supported by literature
--> will  see abnormal neuro exam
--> so impt. to get a good hx!
182
Q

biggest concern w/headaches

A

life-threatening causes:

1) ICP/sterile
2) infectious

183
Q

ICP/sterile conditions that can cause headache?

A
  • -Bleed (includ. unwitnessed trauma)
  • -Mass: tumor (only 15% will have classic am h/a), AVM
  • -Hydrocephalus, includ. shunt failure
  • -Sinus thrombosis
184
Q

AVM

A

arteriovenous malformation

185
Q

Infectious diseases that can cause headache?

A
  • -Abscess (esp. in cyanotic heart–need not have fever!)
  • -Encephalitis
  • -Meningitis
186
Q

are life-threatening conditions commonly the cause of headaches?

A

no! are the minority:

  • -28.5% s/t other illness (like pharyngitis)
  • -20% post-traumatic
  • -11.5% possible Shunt malfunction
  • -2.3% aseptic meningitis
  • -10% primary headache
  • only 6.9% malignant causes!*
187
Q

what makes determining cause of headache more difficult in children?

A
  • -children are less able to give a hx

- -may not cooperate upon exam

188
Q

can headache be a sx of seizure?

A
  • -yes: headache as manifestation of seizure is a known but unusual phenomenon
  • -> in general, EEG not useful in eval. of a h/a
189
Q

what must you consider when thinking of doing scans for headache?

A

–risks of radiation from CTs (esp. < 7 yrs)

190
Q

what is the “ultimate decider” in deciding whether to do a scan for a headache? (headache red flags)

A

RED FLAGS:

1) headache characteristics:
- -> always on same side
- -> QAM
- -> wakes from sleep
- -> clearly positional (if position change causes pain or vertigo)
2) abnormal physical exam:
- -> focal deficit
- -> papilledema

191
Q

features assoc. w/abnormal findings upon imaging for headache:

A

1) headache < 1 month
2) absence of family hx
3) abnormal exam or gait
4) seizures

192
Q

headache w/vomiting…look for what upon physical exam?

A

look at eyes:

 - -> papilledema?
      - -> tumor?
193
Q

papilledema

A

high CSF pressure (increased ICP)

 - -> retina really part of the brain! - -optic nerve surrounded by CSF...w/press, pushes outward - -look for irregularities/kinking of vessels
194
Q

5 characteristics of papilledema

A

1) disc elevation
2) blurring of disc margins
3) loss of venous pulsation
4) hyperemia (much redder), dilatation of vessels (incr. b’flow)
5) hemorrhage

195
Q

hemorrhage in the eye is a sign of:

A

severe papilledema

196
Q

what causes pain in headaches?

A
  • -dura of brain has pain receptors

- -pressure on dura –> get headaches

197
Q

sequence of events that causes migraine headache?

A
  • -ion concentration changes
    • -> to brainstem nuclei
      • -> dilatation of blood vessels
        • -> feel as headache
198
Q

triptans are effective for headache relief at what point?

A

effective only in 1st stages, before feedback step

199
Q

when is Motrin effective for a headache?

A

at any time

200
Q

visual aura

A
  • -before pain of headache starts

- -pts w/auras are great candidates for Triptan meds

201
Q

prevalence of migraine in school-age children?

A

4-10%

202
Q

duration of migraine in child?

A

1-72 hrs

203
Q

migraine in child includes 1 of these 3 characteristics:

A

any 1 of these:

    • moderate intensity or greater
    • pulsating
    • worse w/activity
204
Q

migraine in child is accompanied by:

A
  • -nausea/vomiting
  • -photophobia
  • -behavior change
205
Q

is it impt to distinguish b/t migraine and tension-type headache in children?

A

no! they are similarly treated & likely pathophysiologically similar
–> unlike cluster headaches

206
Q

migraine w/aura

A

classic

207
Q

migraine w/out aura

A

common

208
Q

fortification spectra

A

aura characteristic of migraines

209
Q

what is impt. to do when evaluating migraines?

A

keep a diary– triggers?

210
Q

are migraines more predominant in boys or girls?

A
  • -in children, males are = to or > females

- -in teens onward, female predominance

211
Q

how is evaluating migraines similar to evaluating asthma?

A
  • -good records (pt. diary) can be v. helpful
  • -identify triggers
  • -meds can be divided into preventive & abortive
  • -pt. w/occasional nondebilitating headaches may be managed w/abortive therapy alone
    • **use of frequent breakthrough tx suggests inadequate preventative tx
212
Q

4 preventative tx options for migraines:

A

1) beta blockers
2) antiemetics
3) calcium channel blockers
4) anticonvulsants

**more useful to even think of drugs individually as there is wide variation even w/in drug classes
(atenolol vs. pindolol,
nimodipine vs. nifedipine)

213
Q

typical 1st choice for preventative migraine tx

A

Amitriptylene (TCA)

214
Q

if migraine pt also needs seizure prophylaxis, treat w/:

A

topirimate or VPA

215
Q

if migraine pt has multiple other medical problems, treat w/:

A

gabapentin

216
Q

if <10, treat migraine w/:

A

cyproheptidine

217
Q

if >10 but has insomnia or depression, treat migraine w/:

A

Amitriptylene

noritriptylene

218
Q

if >10 and overweight, treat migraine w/:

A

toprimate

Topramax now on label for migraines in children!

219
Q

if >10 and has asthma, treat migraine w/:

A

VPA

220
Q

if >10, treat migraine w/:

A

propanolol

221
Q

downside to using propanolol as migraine tx?

A

tends to bring out asthma

222
Q

caffeine and migraines?

A

caffeine suppresses migraines but rebounds can come back even stronger

223
Q

caution w/amitriptylene for migraine tx?

A
  • *Don’t use w/Long-QT Syndrome

- -get EKG before using to make sure

224
Q

for abortive migraine tx, use:

A

1) sumatriptan IN (intranasal)
- -> works best early, but still worth a try
2) then Prochlorperazine
3) then VPA: only if necessary! as last resort

225
Q

caution w/ VPA for migraine tx:

A

serious potential ADEs!!

226
Q

4 other headache types:

A

1) Pseudotumor Cerebri (“benign intracranial hypertension”)
2) Shunt Failure
3) Assoc. w/Chiari I
4) “Complicated” Migraine

227
Q

Pseudotumor Cerebri

A
  • -“benign intracranial hypertension”
  • -typically obese adolescent women
  • -normal imaging but elevated CSF pressure
228
Q

Pseudotumor Cerebri is typically seen in:

A

obese adolescent women

–may have hx of hormone or tetracycline use (estrogens/GH/retinols)

229
Q

do you see normal imaging w/Pseudotumor Cerebri?

A

yes, normal imaging

** but elevated CSF pressure

230
Q

why is it impt. to recognize Pseudotumor Cerebri?

A

–bc vision may be compromised

papilledema can –> visual loss

231
Q

when should you expect Shunt Failure?

A
  • -in any child w/VP Shunt

* * needs to be seen emergently

232
Q

headaches assoc. w/Chiari I may be aggravated by…?

A

coughing

classic pain elicited by coughing

233
Q

Lhermitte’s sign (also known as Lhermitte’s phenomenon)

A
  • -an electrical sensation that runs down the back and into the limbs
  • -may be caused by headaches assoc. w/Chiari I
234
Q

name for classic headache pain assoc. w/Chiari I?

A

–classic “cape distributions” numbness or pain

over the tops of the shoulders

235
Q

how can headaches assoc. w/Chiari I be ameliorated?

A

surgically

236
Q

“complicated” migraine

A
  • -w/associated deficit (prolonged aura, visual sx, seizure…)
  • -st family hx
  • -for some forms there are several known genes
237
Q

Chiari I

A

–structural defects in the cerebellum, the part of the brain that controls balance
–bit of cerebellum tucks into foramen magnum
(displacement of the cerebellar tonsils into the cervical canal)
can –> headaches/cape distribution/lhermitte phenomenon)

238
Q

about 50% of peds neuro concerns:

A

seizures

239
Q

seizures vs. seizure disorder/epilepsy

A
  • -seizures may be provoked or unprovoked

- -a tendency towards unprovoked seizures = a seizure d/o

240
Q

what can cause provoked seizures?

A
  • -fever

- -electrolyte abnormalities

241
Q

when is a seizure dx made?

A

generally, after a 2nd unprovoked seizure

usually also the threshold to treat

242
Q

3 types of seizure d/o’s?

A

1) Idiopathic
2) Symptomatic
3) Cryptogenic

243
Q

what causes idiopathic seizures?

A
  • -believed to be d/t an intrinsic tendency

- -> ion channel mutations

244
Q

symptomatic seizures are d/t:

A
  • -tumor
  • -metabolic disease
  • -dysplasia
245
Q

dysplasia

A

an abnormality of development or an epithelial anomaly of growth and differentiation

246
Q

age-related epileptic encephalopathy syndromes are defined by?

A
  • -age of onset
  • -clinical features of the seizures themselves
  • -developmental status
  • -EEG features
247
Q

how is EEG useful in epilepsy?

A

for the distinction of type

–> to tell you what KIND of seizure

248
Q

why is classification of epilepsy into different syndromes helpful?

A
  • -can be useful:
    • -> therapeutically
    • -> diagnostically
249
Q

single most impt. distinction w/seizures, both clinically & by EEG?

A

generalized vs. focal

250
Q

how do you judge generalized vs. focal seizure?

A

by the ONSET
also:
–focality on exam
–semiology, esp. the “aura” : how seizure began much more interesting to neuro than how it ended!
–if present, a Todd’s paralysis may be useful clue

251
Q

semiology

A

detailed and accurate seizure history

252
Q

focal seizure

A

involving a limited brain region

253
Q

focality

A

amt. of brain region seizure affects

254
Q

Todd’s paralysis

A
  • -focal weakness in a part of the body after a seizure
  • -can last for 1/2 hr - 36 hrs after seizure
  • -average 15 hrs
255
Q

key distinction for tx purposes w/seizures?

A

Focal vs. Generalized !!!

256
Q

highly effective med for focal onset of seizure?

A

Carbamazepine

257
Q

is Ethosuximine effective for all seizures?

A

no! only works for generalized

258
Q

broad spectrum seizure tx: focal & generalized

A
  • -VPA

- -lamotrigine

259
Q

is dx of epilepsy primarily based on EEG results?

A
  • -no: dx is primarily clinical

- -BUT, EEG useful for distinction of type

260
Q

2 features of EEG:

A

1) Background
- -is there a normal mixture & distribution of frequencies?
- -> e.g. generalized slowing, focal slowing
2) Paroxysmal features
- -sharp waves, spikes, seizures
- -focal vs. generalized

261
Q

generalized slowing w/seizure is d/t a:

A

global process

262
Q

focal slowing w/seizure is d/t a:

A

specific lesion

263
Q

paroxysmal

A

a sudden attack or increase of symptoms of a disease (such as pain, coughing, shaking, etc.) that often occurs again and again

264
Q

6 examples of epilepsy syndromes:

A

1) West
2) Lennox Gastaut
3) BREC
4) CAE/ JAE
5) JME
6) Landau-Kleffner

265
Q

West Syndrome is characterized by:

A

1) Infantile spasms clusters of:
- -Salaam attacks
- -Cheerleader spasms
- -Head-nods, etc.
2) Developmental Delay (profound)
3) Hypsarrythmia

266
Q

hypsarrythmia

A
  • -a high voltage chaotic background pattern on EEG
  • -abnormal even @baseline
  • -seen in West Syndrome
267
Q

West Syndrome can be d/t:

A
  • -tuberous sclerosis
  • -metabolic disease (eg. biotinidase deficiency)
  • -cryptogenic
  • *can be caused by many diff. d/o’s–often we don’t know**
268
Q

tx for West Syndrome:

A

1) ACTH
2) Vigabatrin
(by time these are given–have been referred to epilsepsy specialist)

269
Q

prognosis for west syndrome?

A

highly variable

270
Q

Lennox-Gastaut is caused by?

A

–can evolve from West Syndrome

271
Q

what disease can evolve from West Syndrome?

A

Lennox-Gastaut

272
Q

3 features of Lennox-Gastaut?

A

1) spike & wave discharges (on eeg)
2) developmental delay (more pronounced)
3) multiple seizure types (clonic, atonic, etc.)

273
Q

prognosis of Lennox-Gastaut?

A

often poor..almost all will have bad outcome

274
Q

BREC/BECTS/Rolandic Epilepsy is usually found in:

A

school-age child

275
Q

features of BREC/BECTS/Rolandic Epilepsy?

A
  • -typically nocturnal seizures (often suspicious movement during sleep)
  • -us. highly focal
  • -controtemporal spikes on EEG
276
Q

one typical type of seizure seen in BREC/BECTS/Rolandic Epilepsy?

A

hemi-grimace

–clench 1 arm, or face…

277
Q

prognosis of BREC/BECTS/Rolandic Epilepsy?

A

excellent! often “outgrow” it

278
Q

tx for BREC/BECTS/Rolandic Epilepsy?

A

if necessary, Carbamazepine was classically drug of choice

now more options

279
Q

Childhood or juvenile absence epilepsy

A
  • -brief staring spells
  • -3 Hz spike & wave discharge
  • -typically NO postictal confusion
280
Q

why is it impt. to distinguish b/t BREC/BECTS/Rolandic Epilepsy and childhood/juvenile absence epilepsy?

A

bc often med that makes one better will make the other worse

281
Q

postictal confusion

A

don’t remember events that happened during seizure, but remember all that happened prior

282
Q

postictal

A

the time period after a seizure has concluded

283
Q

prognosis for Childhood or juvenile absence epilepsy?

A
  • -excellent prognosis

- -often doesn’t require lifelong tx

284
Q

JME

A

juvenile myoclonic epilepsy

285
Q

JME features:

A
  • -morning myoclonus (“kid throws cereal bowl at mom”)
  • -generalized discharges
  • -myoclonic, as well as other seizure types
286
Q

myoclonus

A

sudden, involuntary jerking of a muscle or group of muscles

287
Q

JME prognosis?

A

excellent, but: typically requires lifelong tx
–typically, VPA was drug of choice
(now other options)

288
Q

which epilepsy syndrome generally doesn’t require lifelong tx?

A

childhood or juvenile absence

289
Q

Landau-Kleffner

A
  • -non-specific term:

- -> Epilepsy + Aphasia

290
Q

aphasia

A

a disturbance of the comprehension and formulation of language caused by dysfunction in specific brain regions

291
Q

how to choose anticonvulsant?

A

1) epilepsy/syndrome type
2) side effect profile
3) as much an Art as a Science!

292
Q

VPA ade’s?

A
  • -hepatotoxic, esp. in infants & metabolic disease
    • -> rare, fatal
  • -never safe in pregnant women!
293
Q

Lamotrigine ade’s?

A
  • -Steven-Johnson Syndrome: severe allergic rx

- -> titrate slow to decrease risk

294
Q

Steven-Johnson Syndrome is assoc. w/what anticonvulsant?

A

Lamotrigine

295
Q

what is the “right’ anticonvulsant dose?

A

the one that controls seizures w/minimal side effects!

drug levels are useful but this is even more impt.

296
Q

if pt. failed specific anticonvulsant, impt to consider:

A
  • -Why? pushed to limits/max doses? ade’s?
  • -Rx history
  • -was trial adequate?
297
Q

seizures & teens: considerations

A

–no driving 1 yr. post seizure
–some anti-convulsants interfere w/oral contraceptives
(may be reliable for cycle regulation but not for preventing pregnancy)
–no anti-convulsant proven safe in pregnancy
–> esp. VPA!
–folate for all females!

298
Q

in SMA-1, there is progressive loss of:

A

alpha motor neurons

299
Q

pathophys of SMA:

A

progressive denervation of muscle

  • -compensated in part by reinnervation from an adjacent motor unit
    • -> creating a giant motor unit
      • -> atrophy of muscle fibers when reinnervating motor neuron eventually becomes involved
300
Q

fasciculations in SMA are caused by:

A

muscle is hypersensitive

Peds Patho (8 decks)

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