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pediatrics > neurology > Flashcards

neurology Flashcards

1
Q

neural tube defects - mechanism

A

Nuropores fail to fuse (4th week) –> persistent connection between amnionic cavity and spinal canal

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2
Q

causes of neural tube defects

A

low folic acid intake before conception and during pregnancy

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3
Q

neural tube defects - labs

A
  1. increased a-fetoprotein (AFP) in amniotic fluid and maternal serum (except spina bifida occulta)
  2. increased acetylcholinesterase (AChE) in amniotic fluid in amniotic fluid (helpful confirmatory test)
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4
Q

Spina bifida occulta - mechanism

A

failure of spinal canal to close but no stractural herniatiion, and intact dura –> associated with tuft of hair or skin dimple at level of bony defect

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5
Q

Spina bifida occulta - area

A

usually at lower vertebral levels

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6
Q

Spina bifida occulta - lab

A

normal AFP

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7
Q

Spina bifida - types and MC

A
  1. Spina bifida occulta (MC)
  2. Meningocele
  3. Meningomyelocele
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8
Q

Meningocele - mechanism

A

meninges (BUT NOT NEURAL TISSUE) herniate through body defect

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9
Q

Meningomyelocele - mechanism

A

meninges and NEURAL TISSUE (eg. cauda equina) herniate through bony defect

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10
Q

Meningocele - clinical appearance

A

+/- skin defect (and cyst through it)

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11
Q

Meningomyelocele - clinical appearance

A

skin usually thin or absent (and cyst through it)

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12
Q

Anencephaly - pathophysiology

A

malformation of anterior neural tube –> no forebrain, open calvarium

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13
Q

Anencephaly - clinical and lab findings

A
  1. open calvarium
  2. polyhydramnios
  3. increased AFP
  4. frog like appearance of the fetus
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14
Q

causes of anencephaly

A
  1. maternal type 1 diabetes

2. low folic acid intake before conception and during pregnancy

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15
Q

Forebrain anomalies - types

A
  1. anencephaly

2. holoprosencephaly

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16
Q

holoprosencephaly - mechanism

A

failure of left and right hemispheres to separate during 5-6 weeks. Related to mutations in sonic hedgego signaling pathway

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17
Q

holoprosencephaly - moderate form

A

cleft lip/palate

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18
Q

holoprosencephaly - most severe form (and describe)

A

cyclopia –> only one eye, centrally placed at nose’s root are. There is a missing nose or a nose in the form of a proboscis (a tubular appendage) located above the eye.

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19
Q

holoprosencephaly - seen in

A
  1. Patau syndrome

2. fetal alcohol syndrome

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20
Q

Posterior fossa malformations - types

A
  1. Chiari II

2. Dandy-Walker

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21
Q

Chiari II - pathophysiology

A

significant herniation of cerebellar tonsils and vermis through foramen magnum with aqueductal stenosis
–> hydrocephalus

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22
Q

Chiari II may occur in association with

A
  1. lumbosacral menigomyelocele –> paralysis below the defect
  2. syringomyelia
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23
Q

Dandy-Walker - pathophysiology

A

agenesis of cerebellar vermis with cystic enlargment of 4th ventricle (fills the enlarged posterior fossa)

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24
Q

Dandy-Walker is associated with

A
  1. noncommunicating hydrocephalus

2. spina bifida

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25
Q

Chiari I malformation - mechanism

A

cerebellar tonsillar ectopia >3-5 mm

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26
Q

Chiari I malformation - clinical appearance

A

congenital, usually asymptomatic in childhood, manifests with feadaches and cerebellar sympotms (as the skull and brain are growing)

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27
Q

febrile seizures - diagnosis

A
  • fever more than 38.9 with rapid rise

- tonic-clonic seizure lasting less than 15 mins (atypical at lower Q and last longer) and do not recur in 24 hours

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28
Q

febrile seizures - when LP

A

if meningitis is suspected or in children younger than 12 months

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29
Q

febrile seizures - EEG

A

normal (unless atypical)

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30
Q

febrile seizures - treatment

A

confirm respiratory stability
acetaminophen
atypical should receive more in depth work (labs, MRI, ECG)

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31
Q

febrile seizures - complications

A
  • very small rise of risk in epilepsy

- atypical: more likely to recur, increased risk of epilepsy

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32
Q

neurocutaneous disorders - types

A
  1. Sturge-Weber syndrome
  2. Tuberous sclerosis
  3. Neurofibromatosis type 1 (von Recklinhhausen disease)
  4. von Hippel-Lindau disease
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33
Q

von Hippel-Lindau disease - manifestations

A
  1. hemangioblastomas in retina, brain stem, cerebellum, spine
  2. angiomatosis (cavernous hemangiomas in skin, mucosa, orgnas)
  3. bilateral renal cell carcinoma
  4. pheochromocytomas
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34
Q

Neurofibromatosis type 1 - manifestation

A
  1. cafe-au-lait spots
  2. Lisch nodules (pigmented iris hamartomas )
  3. cutaneous neurofibromas
  4. optic gliomas
  5. pheochromocytomas
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35
Q

tuberous sclerosis - manifestations

A
  1. Hamartomas (in CNS and skin) 2. Angiofibromas
  2. Mitral regurgitation 4. ash leaf spots 5. cardiac rhabdomyomas 5. Metal retardation 6. renal angimyolipoma 7. seizures 8. Shangreen patches
  3. high incidence of subependymal astrocytomas and ungual fibromas
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36
Q

Struge - weber syndrome - manifestation

A
  1. nevus flammeus 2. ipsilateral leptomeningeal angioma 3. intellectual disability 4. episcleral hemangioma
  2. early onset glaucoma 6. epilepsy/seizures
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37
Q

Todd paralysis

A 
transient neurologic deficit (usually hemiparesis) that occurs after a seizure
self limited (resolve within hours)
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38
Q

acute causes of hemiplegia in children

A
  1. seizures (postictal confusion or Todd paralysis)
  2. Hemiplegic migraine
  3. Ischemic stroke
  4. Intracranial hemorrhage
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39
Q

Kippel-Trenaunay sundrome

A

capillarym venous and sometimes lymphatic malformations in combination wiht limb overgrowth–> port wine in the lower extremities
no neurological abnormalities

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40
Q

DDX of flaccid paralysis - presentation

A
  1. infant botulism (spores) - descending flaccid
  2. foodborne botulism (preformed toxins) - descending flaccid
  3. Guillain Barre - ascending
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41
Q

DDX of flaccid paralysis - treatment

A
  1. infant botulism - human IVIG
  2. foodborne botulism - equine antitoxin
  3. Guillain Barre - pooed human immune glob
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42
Q

botulism also affects eyes

A

ptosis, weak papillary relfex

also autonomic dysfunction (drooling)

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43
Q

absence seizures are easily provoked by

A

hyperventilation

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44
Q

Lennox-Gastaut syndrome

A

presents by age 5 with intellectual disability and severe seizures of varying types
ECG: slow spike wave pattern

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45
Q

tests to monitor Guillen Barre

A

PFT (eg. spirometry) –> decline in FVC more than 20 ml –> resp failure

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46
Q

Guillen barre - indications for ntubation

A
  1. decline of fvc more than 20 ml
  2. resp distress (eg. tachypnea, accessory muscles)
  3. dysautonomia
  4. widened pulse pressure
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47
Q

Bacterial meningitis - complications (MC)

A
  1. hearing loss (MC)
  2. intellectual disability
  3. Cerebral palsy
  4. epilepsy
    - -> audiologic screening + developmental follow up
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48
Q

causes of interventricular hemorrhages / presentation / screening

A
  1. prematurity (less than 30 wks) 2. low birth weight (less than 1.5 kg)
    - pallor, cyanosis, hypotension, seizures, bulging or tense fontanel, AASYMPTOMATIC (mandatinng tranfontanel U/S in Risk factors)
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49
Q

mild traumatic injury with repeated vomiting, headache and loss of consciousness - next step

A

CT without contrast or observation for 4-6 hours –> if normal CT or uneventful observation –> discharged with a reliable guardian

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50
Q

define serious traumatic brain injury

A

GCS less than 13, prolonged loss of consciousness, neurologic deficit, signs of basilar skull fracture

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51
Q

when we should perform CT without contrast after trauma

A

neurologic findings, skull fructures, seizures, persistent alterned mental status, prolonged loss of consciousness

52
Q

when we should perform CT without contrast or observation for 4-6 hours after trauma

A

vomiting, headeache, questionable or bried loss of consciousness, severe mechanism of injury,

53
Q

posterior oropharyngeal injuries - complications

A

can result in internal carotid artery dissection or thrombus formation –> hemoplgeia, facial drop, aphasia
(minor oropharyngeal trauma, eg. fall with object in the mount)

54
Q

febrile seizures - next step after acetaminophen

A

reassurance (no labs, no admission)

55
Q

Duchenne clinical manifestations

A
  1. Weakness begins in pelvic gridle muscles and progress superiorly
  2. Pseudohypertrophy of calf muscle (fibrofatty replacement of muscle
  3. Gower maneuver
  4. Dilated cardiomyopathy
  5. Waddling gait
  6. scoliosis
56
Q

Duchenne pathophysiology

A

X-linked frameshift mutation–> truncated dystrophin protein –>accelerated muscle breakdown and inhibited muscle regeneration

57
Q

Myotonic muscular dystrophi

A

AD: grip myotonia (delayed muscle relaxation), facial weakness, foot drop, dysphagia, cardiac conduction anomalies, cataracts, testicular atrophy/infertility, baldness

58
Q

Duchene vs becker bs myotonic muscular dystrophy regarding inheritance / age of onset

A

Duchene (2-3) + Becker 5-15) are X

Myotonic (12-30) is AD (with triplet)

59
Q

Becker - comorbitities

A

cardioyopathy

60
Q

MC site of ependymomas

A

4th ventricle in the posterior fossa

61
Q

febrile seizures - criteria

A
  1. age 3 months - 6 years
  2. no previous AFEBRILE seizures
  3. no meningitis or encephalitis
  4. no acute metabolic disease
62
Q

absence seizures - associated with

A
  • anxiety

- ADHD

63
Q

predisposing conditions for brain abscesses

A

reccurent sinusitis, bacteremia, CYANOTIC HEART DISEASE, otitis, dental infection

64
Q

red flag for autism spectrum disorder

A

impaired social interaction

65
Q

Breath-holding spells?

A

6 months - 2 years. NORMAL. types:
- cyanotic: crying followed by breath-holding, cyanosis + Loss of consciousness
- pallid: minor trauma followed by breath-holding, pallor, diaphoresis and loss of con
NO POSTICTAL PERIOD

66
Q

increasing head circumference and signs of increased ICP in children –>

A

CT of the brain

67
Q

Frangile X syndrome

A

X - CGC

MCC of inherited intellectual disability, speech and motor delays, prominent jaw, large ears, macroorchidism, AUTISM

68
Q

Sudden infant eath syndrome?

A

unexpalined death of infants age less than 1

69
Q

SIDS - Risk factors (which is the strongest

A
  1. Maternal: smoking during of after pregnancy, younger than 20, inconsistent prenatal care
  2. Infant: Prone/side sleep position, soft sleep surface, Bed-sharing, prematurity, siblings with SIDS
    - PRONE POSITION IS THE STRONGEST
70
Q

absence seizures vs inattentive staring spelss

A

inattentive staring spelss –> 1ry during boring activities, more than 1 min, response to vocal or tactile stimulation, lack of automatics
- absence –> during all activities, less than 20 sec, lack of response to vocal or tactile stimulation, presence of automatism

71
Q

causes of intellectual disability in small children

A
  1. Fetal alcohol
  2. Down
  3. Fragile X
72
Q

Disorder of fructose metabolism vs galactose metabolism according symptoms

A

Disorder of fructose metabolism cause milder symptoms

73
Q

Fructose intolerance - deficiency of

A

Hereditary deficiency of aldolase B

74
Q

Symptoms of fructose intolerance present following

A

CONSUMPTION of fruit, juice, honey

75
Q

Fructose intolerance symptoms

A
  1. Hypoglycemia
  2. Jaundice
  3. Cirrhosis
  4. Vomiting
76
Q

Fructose intolerance/urine

A
  1. Urine dipstick - (test for glucose only)

2. Reducing sugar can be detected in the urine (nonspecific for inborn errors of carbohydrate metabolsim)

77
Q

Fructose intolerance treatment

A

Reduce fructose and sucrose (glucose and fructose) intake

78
Q

Essential fructosuria - mechanism and manifestation

A

Defect in fructokinase

fructose in blood and urine

79
Q

Galactokinase deficiency

A

Hereditary deficiency of galacktokimase

80
Q

Galactokinase deficiency sympoms

A
  1. Galactose in urine and blood
  2. Infantile cataracts
  3. May initially present as failure to track objects or to develop a social smile
81
Q

Classic galactosemia - mechanism

A

Absence of galactose-1-phosphate uridyltransferase

82
Q

Classic galactosemia symptoms

A
  1. Failure to thrive
  2. Jaundice
  3. Hepatomegaly
  4. Infantile cataracts
  5. Intellectual disability
  6. E. Coli sepsis in neonates
  7. Pi depletion (in most serious defect)
83
Q

Fetal alcohol syndrome - manifestations

A

smooth phhiltrum, thin vermilion border, small palpebral fissures, microcephaly

84
Q

best initial laboratory test for acoustic neuromas

A

audiometry

85
Q

infant botulism - area

A

California

86
Q

Focal seizures - definition

A

originates from 1 cerebaal hemisphere

+/- loss of consciousness

87
Q

juvenile myoclonic epilepsy - during

A

1st hour after awaking

88
Q

another characteristic of NF1

A

macrocephaly
short stature
learning disabilities

89
Q

brain tumor - seizures regarding tumor location

A

supratentorial

90
Q

PKU - mechanism

A
  • AR mutation in phenylalanine hydroxylase

- failure to convert phenylalanine into tyrosine

91
Q

PKU - manifestation

A

severe intellectual disability, seizures, musty body odor, hypopigmentation (skin, hair, eyes, brain nuclei)

92
Q

PKU - diagnosis

A
  1. newborn sceening (spectometry)

2. quantitative amino acid analysis (increased phenylalanine levels) (later in life)

93
Q

PKU - treatment

A

dietary restriction of phenylalanine (avoid high protein foods)

94
Q

infant hydrocephalus - symptoms / management?

A

poor feeding, irritability, vomiting, decreased activity

–> CT

95
Q

hydrocephalus - physical exam findings

A
  1. tense + bulging fontanelle
  2. prominent scal vein
  3. widely spaced creanial sutures
  4. rapidly increasing head circumference
96
Q

how to prevent SIDS

A
  1. smoke avoidance
  2. pacifier use
  3. sleeping in the supine position with firm bedding
  4. room-sharing without bed-sharing
97
Q

homocyst vs marfan regarding intellectual disability

A

normal in marfan

disability i homocysteinuria

98
Q

cerebral palsy - leading RF

A

premature

99
Q

cerebral palsy - comorbidities

A
  1. intellectual disability
  2. epilepsy
  3. strabismus
  4. scoliosis
100
Q

Lesch-Nyhan syndrome problem

A

Defective purine salvage due to HGRPT) deficiency or absent which convert Hypoxanthine to IMP and guanine to GMP

101
Q

Lesch-nyhan syndrome results in:

Inheritable?

A

Excess uric acid production and de novo purine synthesis

X linked recessive

102
Q

Lech-nyhan syndrome clinical manifestations:

A 
Mnemonic HGPRT
Hyperuricemia
Gout
Pissed off (aggression, self-mutilation)
Retardation
DysTonia
\+ PYRAMYDAL SYMPTOMS
103
Q

Trinucleotide repeat expansion diseases

A
  1. Fragile x syndrome - CGG
  2. Friedreich ataxia - GAA
  3. Huntington - CAG
  4. Myotonic Dystrophy - CTG
104
Q

how to prevent intraventricular hemor

A

prevention of preterm labor

antenatal administration of maternal corticosteroids

105
Q

marfan vs homocyst regarding mode of inheritance

A

marfan: AD
homocyst: AR

106
Q

homocyst - treatment

A

vit B6, folate, vit B12

107
Q

infant vs adult boutilism in presentation

A

adults phas prodrome symptoms of nausea, vomiting, abd pain, diarrhea

108
Q

triggers of generalized seizures

A
  1. sleep deprivation
  2. hypoglycemia
  3. fever
109
Q

seizures - automoatism

A

repetitive semi-puroposeful movements (eg. chewing, sucking, swallowing) involve both hemispheres and are seen in focal seizures with impairment of consciousness

110
Q

another difference between cephalohematoma and caput succedaneum

A

caput: present immediately in delivery
cephal: after several hours

111
Q

pediatric migraine - treatment

A

NSAID or acetaminophen –> if no improve –> triptan

112
Q

Fridreich ataxia - manifestation

A
  1. degeneration of multiple spinal cord track
  2. staggering gait (frequent falls)
  3. nystagmus)
  4. dysarthria
  5. hammer toes
  6. DM
  7. hypertrophic cardiom
  8. kyphoscoliosis
113
Q

characteristics of NF2

A

bilateral acoustic neuromas and cataracts

114
Q

cutaneous symptoms of NF1 are also in NF2

A

no

115
Q

guillain barre - sensoty

A

sometimes

116
Q

Lysosomal storage diseases - types and diseases and enzymes

A

A. spingolipidoses:
1. Fabry - a-galactosidase A deficiency
2. Gaucher - Glucocerebrosidase (β-glucosidase)
3. Niemann-Pick - Sphingomyelinase
4. Tay-Sachs - Hexosaminidase A
5. Krabbe - Galactocerebrosidase
6. Metachromatic leukodystrophy - Arylsulfatase A
B. Mucopolysacccharidosrs:
1. Hurler syndrome - a-L-iduronidase
2. Hunter syndrome - Iduronate sulfatase deficiency

117
Q

Hurler syndrome symptoms

A
  1. Developmental delay
  2. Gargoylism (abnormal facial features)
  3. Airway obstruction
  4. Corneal clouding
  5. Hepatosplenomegaly
118
Q

Hunter syndrome - symptoms

A

Mild Hurler + aggressive behavior, no corneal clouding

119
Q

Sphingolipidoses mode of inheritance

MC?

A

AR except FABRY disease (XR)

MC: Gaucher disease

120
Q

Fabry disease - presentation

A

early: Triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis
late: progressive renal failure, cardiovascular disease

121
Q

Gaucher findings

A
  1. Hepatosplenomegaly
  2. Pancytopenia
  3. Aseptic necrosis of femur
  4. Gaucher cell
  5. Bone crisis
  6. osteoporosis
122
Q

Niemann-pick disease

A
  1. Progressive neurodegeneration
  2. Cheery red spot on macule
  3. Foam cells (lipid-laden macrophages)
  4. Hepatosplenomegaly
123
Q

Tay-Sachs disease findings

A
  1. Progressive degeneration
  2. Developmental delay
  3. Cherry red spot on macule
  4. Lysosomes with onion skin
    NO HEPATOSPLENOMEGALY (vs Niemann-Pick)
124
Q

Krabbe disease findings

A
  1. Peripheral neuropathy
  2. Developmental delay
  3. Optic atrophy
  4. Globoid cells
125
Q

Metachromatic leukodystrophy findings

A

Central and peripheral demyelination with ataxia and dementia

126
Q

niemann pick vs Tay-sach - 2 differences in clinical presentation

A

Nieman: hepatosplenomegaly + AREFLEXIA
Tay: no hypetasplenomegaly + HYPERREFLEXIA

pediatrics (16 decks)

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