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System Path I > Pediatrics > Flashcards

Pediatrics Flashcards

1
Q

neonatal age range

A

birth to 4 weeks

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2
Q

infancy age range

A

1 year

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3
Q

early childhood age range

A

1-4 years

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4
Q

late childhood range

A

5-14 years

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5
Q

top 3 most common causes of death in kids < 1yr

A

congenital malformations
complications from being premature or low birth wt
SIDS

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6
Q

top 4 most common causes of death in kids 1-4 yrs

A

injuries
congenital malformations
malignancies
homicide

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7
Q

top 5 most common causes of death in kids 5-14

A 
injuries
malignancies
homicide
congenital malformations
suicide
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8
Q

describe caput succedaneum

A

birth injury - scalp squeezed against skull - obstructs venous and lymph draining - born with bump on head

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9
Q

describe cephalohematoma including 2 complications

A

birth injury - hemorrhage beneath periostium

anemia and jaundice

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10
Q

most common birth injury?

A

clavicle injury

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11
Q

most signifiant birth injury?

A

intracranial hemorrhage

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12
Q

Simian crease, epicanthic crease, flat faced, floppy - disease?

A

trisomy 21 - downs

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13
Q

trisomy 18

A

Edwards

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14
Q

trisomy 13

A

Patau

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15
Q

thymic and parathyroid hypoplasia - disease? genetics? symptoms (2)? detection?

A

DiGeorge
22q11 deletion
psychoses, hypocalcemia
FISH

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16
Q

congenital heart disease, palatal abnormalities, facial dysmorphism, developmental delay - disease? genetics? symptom? detection?

A

Velocardiofacial syndrome
22q11 deletion
psychoses
FISH

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17
Q

male hypogonadism, severe testicular atrophy, eunuchoid - disease? genetics?

A

klinefelter’s

XXY or XXXY

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18
Q

short, low hair line, neck webbing, lymphedema - disease? genetics?

A

Turner’s

45 XO

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19
Q

widely spaced nipples, streak ovaries, amenorrhea - disease? genetics?

A

Turner’s

45 XO

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20
Q

drug involved with missing limbs

A

thalidomide

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21
Q

narrow palpable fissures

A

fetal alcohol syndrome

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22
Q

large baby, large organs

A

Maternal diabetes

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23
Q

most common genetic cause of congenital malformations

A

multifactorial (polygenic) inheritance

environment + 2 or more genes of small effect

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24
Q

what weeks of development can organ development be affected?

A

3-8 weeks

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25
Q

primary structural abnormality with poor formation of tissue due to localized error, normal otherwise - name and 3 examples

A

malformation
poly or syndactyly
cleft lip/palate
congenital heart disease

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26
Q

structural defect caused by secondary destruction of a previously normally formed part from an extrinsic disturbance in morphogenesis - name and example?

A

disruption

amniotic bands

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27
Q

localized or generalized compression fetus by abnormal biomechanical forces - name and examples?

A

deformation (later that malformations)
uterine constraint most common due to:
small uterus, leiomyoma, multiple fetuses, oligohydramnios

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28
Q

club foot is an example of what type of birth defect?

A

deformation

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29
Q

multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis - name and example?

A

sequence

Potter sequence

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30
Q

oligohydramnios, renal agenesis - name and consequences (3)?

A

Potter sequence
pulmonary hypoplasia
amnion nodosum
fetal compression

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31
Q

nodules on amnion - name and what causes it?

A

amnion nodosum

friction from oligohydramnios

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32
Q

presence of 1 or more developmental anomalies of 2 or more systems due to a common etiology - name and 2 common examples?

A

syndrome
down syndrome
XXY (Kleinfelter’s)

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33
Q

IUGR is what?

A

Intrauterine Growth Retardation

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34
Q

normal gestational period?

A

37-42 weeks

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35
Q

SGA - what does it stand for and what does it mean?

A

small for gestational age - birth weight below 10th percentile

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36
Q

LGA - what does it stand for and what does it mean?

A

large for gestational age - birth weight above 90th percentile

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37
Q

AGA - what does it stand for and what does it mean?

A

appropriate for gestation age - birth weight between 10th and 90th percentiles

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38
Q

actual wt considered to be low birth weight

A

<= 2,500 g

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39
Q

3 types of IUGR and how they relate to brain

A

fetal causes (symmetric): brain and organs develop at same rate

placental causes (asymmetric): brain has preferential growth over other organs

maternal causes (asymmetric): brain has preferential growth over other organs

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40
Q

is smoking more closely related to congenital anomalies or SIDS? Other associations?

A

SIDS
spontaneous abortions
premature labor
low birth wt

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41
Q

what does Apgar Score predict? what does it stand for? Scoring?

A 
perinatal morbidity
A: acitivity (muscle tone)
P: pulse
G: grimace (response to catheter in throat)
A: appearance (color)
R: respiratory effort

0 for not there, 1 for sort of there, 2 for present
max score: 10

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42
Q

When do you take an Apgar Score? What does a score of 1 at 5 min mean?

A

1 and 5 min after birth

50% chance of mortality

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43
Q

leading cause of morbidity and mortality in premature infants? responsible for how many neonate deaths?

A

RDS or hyaline membrane disease

50% of all neonate deaths in USA

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44
Q

explain how maternal diabetes can lead to RDS of the newborn?

A

diabetes in mother leads to increased insulin in fetus - insulin suppresses surfactant production leading to decreased surfactant

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45
Q

grunting baby with bell shaped thorax - disease? what do you see on x-ray? autopsy?

A

RDS or hyaline membrane disease
ground glass appearance
lungs are solid, airless, purple - look like liver

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46
Q

baby presents with RDS and dies in first several hours of life - what do you see on microscopy? why?

A

necrotic cellular debris, no inflammation

hyaline membranes aren’t produced until 12-24 hours

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47
Q

baby with RDS has been alive 15 hours, what do you see on microscopy? what is it made of?

A

smooth pink membranes

necrotic type II pneumocytes and fibrin - no inflammatory cells

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48
Q

what do you see on microscopy in an infant with RDS who has survived several days?

A

proliferation of type II pneumocytes and interstitial fibrosis

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49
Q

what is retrolental fibroplasia? how do you get it?

A

sequelae of RDS -> retinopathy of prematurity
caused by oxygen toxicity - VEGF is inhibited by O2 therapy but when taken off VEGF levels increase dramatically and lead to vascularization of vitreous humor

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50
Q

what is bronchopulmonary dysplasia? What is it associated with?

A

sequelae of RDS -> alveolar hypoplasia (decrease in number of mature alveoli)

Associated with increased levels of proinflammatory cytokines (TNF, IL-1, IL-8)

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51
Q

newborn with Apgars of 7 and 8 develops tachypnea, nasal flaring, and intercoastal retractions. Skin is mottled and lips are dusky - what does she have?

A

RDS

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52
Q

A newborn begins oral feeding and develops vomiting, blood tinged diarrhea and a distended abdomen. Diagnosis? What do you see on x-ray? Complications?

A

Neonatal Necrotizing Entercolitis (NEC)
dilated loops of bowel (gas filled) and pneumatosis intestinalis
shock, DIC, death

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53
Q

pneumatosis intestinalis - what is it? what do you see on x-ray? microscopy?

A

small air filled spaces beneath mucosa
dark lines on x-ray showing gas in wall of bowel
microscopy has foreign body giant cells (reacting to gas)

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54
Q

NEC affects what parts of the bowel?

A

terminal ileum, caecum, right colon

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55
Q

short gut syndrome, malabsorption, and strictures are delayed complications of what? Name 3 early ones

A

Neonatal Necrotizing Entercolitis (NEC)

sepsis, DIC, perforation

56
Q

what is the source of never cells in the embryo and fetus up to 33 weeks of gestation? this area is highly sensitive to what?

A

germinal matrix

anoxia

57
Q

what grade is a hemorrhage of the germinal matrix with intraventricular extension without dilation?

A

II

58
Q

what grade is a hemorrhage of the germinal matrix with intraventricular extension with dilation?

A

III

59
Q

what grade is a hemorrhage of the germinal matrix with intraventricular and intraparenchymal extension?

A

IV

60
Q

long term sequelae of neonatal intraventricular hemorrhage (3)

A

cavitations surrounded by hemosiderin laden macrophages
gliosis
hydrocephalus

61
Q

child acutely develops apnea, bradycardia, turns pale and develops a seizure - cause? what do you see on physical exam?

A

neonatal intraventricular hemorrhage

bulging anterior fontanelle

62
Q

at what level does bilirubin start having clinical manifestations in neonate?

A

> 5 mg/dl

63
Q

serum bilirubin of newborn 12-15 mg/dl - lasts 5 days in term infants and 7 days in preterm infants - what type of bilirubin is elevated? what type of jaundice? how long before normal?

A

unconjugated
physiological jaundice
2 weeks

64
Q

name 3 features of pathological jaundice?

A

jaundice appearing in first 24 hours of life
total bilirubin >15 mg/dl (hyperbilirubinemia)
conjugated bilirubin > 2 mg/dl

65
Q

Crigler-Najjar syndrome leads to what type of jaundice (2 classifications)

A

pathological

unconjugated hyperbilirubinemia

66
Q

neonatal hepatitis leads to what type of jaundice (2 classifications)

A

pathological

conjugated hyperbilirubinemia

67
Q

explain erythroblastosis fetalis

A

aka hemolytic disease of newborn

maternal Abs attack fetus - can be due to Rh antigen or ABO blood groups

68
Q

what type of bilirubin leads to kernicterus and what is it? what areas specifically are affected?

A

unconjugated
deposition of bilirubin in the brain
basal ganglia and brain stem

69
Q

autopsy of infant shows bile stained organs, erythroblastic hyperplasia of bone marrow and extramedullary hematopoiesis in liver and spleen - condition?

A

hydrops fetalis

70
Q

how do you treat kernicterus? how do you avoid this condition?

A

phototherapy - light breaks down bilirubin into excretable components
give anti-D globulin with 72 hours of delivery

71
Q

what is general difference between maternal antigens against Rh groups and maternal antigens agains ABO groups?

A

Rh antigens affect second Rh+ child, not first

if mother is O, she already has IgG anti-A and anti-B so it can affect the first child

72
Q

complete absence of UDP-glucuronyltransferase activity - disease? prognosis?

A

Crigler-Najjar Disease - Type I

most die first year of life

73
Q

partial decrease of UDP-glucuronyltransferase activity - disease? prognosis? treatment?

A

Crigler-Najjar Disease - Type II
less severe than type I
treat with phenobarbital -> synthesis of deficient enzyme

74
Q

complete obstruction of lumen in extrahepatic biliary tree within first three months of life - name of condition? most common treatment?

A

biliary atresia

number 1 reason for liver transplant in that age group

75
Q

early onset neonatal cholestasis, no jaundice free period after onset - name of condition? subtype? associated finding?

A

biliary atresia
Embryonic/fetal type
other congenital anomalies

76
Q

late onset neonatal cholestasis (4-8 weeks), jaundice free interval - name of condition? subtype? how does it happen?

A

biliary atresia
Perinatal type
acquired infection usually

77
Q

marked bile ductular proliferation, portal tract edema and fibrosis, parenchymal cholestasis - diagonsis? treatment and survival?

A

extrahepatic biliary obstruction

75% survival first 60 days, 20-30% if operate after 90, 80% with transplant

78
Q

half of all neonatal hepatitis, ballooning of hepatocytes, acidophilic degeneration - name? prognosis?

A

ideopathic hepatits aka giant cell hepatitis

75-90% surivival

79
Q

prone sleeping - what is it? what can it lead to?

A

sleeping on stomach

SCIDS

80
Q

prolonged spell of apnea followed by cardiac arrhythmia in infant - diagnosis? most common finding on lungs?

A

SCIDS

petechiae

81
Q

petechiae on lungs, heart, thymus, gliosis of brain stem, RV hypertrophy - diagnosis?

A

SCIDS

82
Q

trophoblasts are present in what structure of pregnancy and what do they do?

A

part of chorion, protect against infection

83
Q

what is the only virus involved in ascending infections of fetus?

A

herpes simplex

84
Q

name 2 common routes fetus gets infected by ascending infection

A

inhalation of infected amniotic fluid

passage through birth canal

85
Q

inflammation of the umbilical cord?

A

funisitis

86
Q

infects RBCs and can lead to hypoplastic anemia - diagonsis? how does fetus acquire?

A

parvovirus B19

hematogenous route

87
Q

common neonatal infection organisms

A 
TORCH
T: toxoplasmosis
O: others
R: rubella
C: CMV
H: herpes simplex
Others: SLAVE
S: syphilis
L: listeria monocytogenes 
A: adenovirus
V: varicella
E: enterovirus
88
Q

chorioretinitis, osteomyelitis, periventricular calcification, SGA infants - diagnosis?

A

TORCH infection

89
Q

cataracts, microphthalmia, PDA - diagnosis?

A

Rubella

90
Q

deeply basophilic nuclear inclusions

A

CMV

91
Q

eosinophilic inclusion bodies, syncytial cells

A

herpes simplex

92
Q

chronic pulmonary disease, deficient exocrine pancreatic function, inspissated mucus - disease? pathogenesis?

A

CF

defective CFTR - Cl- can’t leave cell, Na doesnt leave cell, H20 doesnt leave cell, sticky mucous

93
Q

7q31.2 mutation - disease?

A

CF

94
Q

F508 - disease? what type of problem is it?

A

CF

3 base pair deletion - loss of phenylalanine

95
Q

difference between bronchiectasis and CF with respect to lungs?

A

bronchiectasis: lower lung lobe
CF: upper lobe

96
Q

meconium ileus - what is it? what disease is it associated with? 2 complications?

A

impaction of meconium in terminal ileus
CF
perforation and peritonitis

97
Q

lack of vas deferens - disease?

A

CF

98
Q

foul smelling steatorrhea, malnutrition, failure to thrive? - disease?

A

CF

99
Q

nasal polyps, rectal prolapse

A

CF

100
Q

mousy odor of diaper - disease? how to treat? complication?

A

Phenylketonuria
restrict phenylalanine in diet
irreversible brain damage

101
Q

defective melanin production? disease? deficient enzyme?

A 
PKU
phenylalanine hydroxylase (PAH)
102
Q

infants fed milk rapidly develop hepatosplenomegaly, jaundice and hypoglycemia can lead to cataracts and mental retardation - disease? how to treat?

A

Galactosemia

give galactose free milk

103
Q

extensive and uniform fat accumulation in the liver, bile duct proliferation, cholestasis and fibrosis - disease?

A

galactosemia

104
Q

intermittent jaundice with a black liver - disease? what causes it?

A

Dubin-Johnson syndrome

defective transport of conjugated bilirubin from hepatocytes to canalicular lumen

105
Q

defect in hepatic excretion of coproporyphrins is associated with what disorder?

A

Dubin-Johnson syndrome

106
Q

mild intermittent jaundice, mostly asymptomatic, serum bilirubin 2-5mg/dl - disease? what cells are involved? what is pigment made of?

A

Dubin-Johnson syndrome
hepatocytes and kupffer cells (pigment accumulates here)
polymers of epinephrine metabolites NOT BILIRUBIN

107
Q

defect of excretion of conjugated bilirubin into biliary canaliculi with bilirubin being absorbed into blood - disease?

A

Rotor Syndrome

108
Q

jaundice, attacks of intermittent epigastric discomfort, abdominal pain, fever with low-grade pigment deposition - disease?

A

Rotor Syndrome

109
Q

what age group does Wilm’s tumor affect?

A

0-4 years

110
Q

what age group does Ewing tumor affect?

A

5-9 years

111
Q

are cancers more severe in children or adults?

A

WAY more severe in adults, much higher mortality

112
Q

Deletion 13q increases risk of what kind of cancer?

A

Retinoblastoma

113
Q

Wiskott Aldrich Syndrome increases risk of what kind of cancer?

A

lymphoma

114
Q

Agammaglobulinemia increases risk of what kind of cancer?

A

ALL

115
Q

small, round, blue cells - indicative of what? what type of tissue?

A

description of solid childhood tumors

embryonal tissue

116
Q

tumor of primitive neural crest cells - disease? what do these cells normally develop into?

A

Neuroblastoma

adrenal medulla and sympathetic ganglia

117
Q

blueberry muffin baby - disease?

A

Neuroblastoma

118
Q

<2 year old, mass in abdomen and mediastinum, can form cyst - synaptophysin (+) - disease?

A

Neuroblastoma

119
Q

neuropil and Homer-wright pseudo rosettes - disease? why are they pseudo rosettes? most common site of metastasis?

A

Neuroblastoma
pseudo because no lumen
bone lymph nodes

120
Q

elevated blood levels of catecholamines and elevated urine VMA and HVA indicate what? what other test should you order and why?

A

Neuroblastoma

X-ray to look for calcifications of tumor

121
Q

Staging of Neuroblastoma

A

1: lymph nodes (-)
2A: incomplete gross excision (ipsilateral nodes (-) )
2B: incomplete gross excision (ipsilateral nodes (+) )
3: unresectable crossing midline without lymph nodes, or localized tumor with contralateral nodes (+)
4: distant metastasis
4S: localized primary tumor with dissemination limited to skin, liver, and/or bone marrow (Good prognosis!!)

122
Q

how does age relate to prognosis of neuroblastoma?

A

the younger the better the prognosis:

5 = poor

123
Q

deletion of 1p and gain of 17q and n-myc amplificaiton - disease? prognosis?

A

neuroblastoma

poor

124
Q

increased Tyrosine kinase receptor (Trk-A) - disease? prognosis?

A

neuroblastoma

good prognosis

125
Q

neuroblastoma can spontaneously regress in 3-7% of patients, why? 2 reasons

A

necrosis

spontaneous differentiation

126
Q

most common primary renal tumor of children?

A

Wilms tumor

127
Q

associated with WAGR syndrome, Denys-Drash syndrome, and Beckwith-Wiedemann syndrome what gene is mutated in each of these and what disease?

A

WAGR syndrome, Denys-Drash syndrome: WT1
Beckwith-Wiedemann syndrome: WT2
Wilm’s tumor

128
Q

macroglossia, omphaelocele, unilateral gigantism - disease? associated with what other disease?

A

Beckwith-Wiedemann syndrome

Wilm’s tumor

129
Q

beta-catenin gene mutations are associated with what childhood cancer?

A

Wilm’s tumor

130
Q

child with aniridia and mental retardation has a 33% chance of developing what kind of cancer? what is the name of this predisposing condition?

A 
Wilm's tumor
WAGR syndrome (A for aniridia)
131
Q

small triangular areas under cortex of kidneys are called what? what are they indicative of?

A

nephrogenic rests

precursor lesions to cancer

132
Q

this tumor is soft, tan to gray, bleeds easily, well circumscribed and have a triphasic pattern with blastema, stroma, and epithelium

A

Wilm’s tumor

133
Q

mass in kidney has hyperchromatic nuclei and have cells that are 3 times larger than adjacent cell types with mitotic figures - disease? prognosis?

A

Wilm’s tumor - anaplastic subtype

worst prognosis

134
Q

mother brings baby in because she found a mass in his abdomen while bathing him. child shows abdominal tenderness and hematuria - diagnosis? most common sites for metastasis?

A

Wilm’s tumor

3 L’s: lymph nodes, liver, lungs ONLY

135
Q

2 year old presents with leukocoria, spontaneous hyphema, and strabismus - define these terms and give a diagnosis - explain 2 methods of spread

A

leukocoria: white pupil
hyphema: hemorrhage into the anterior portion of eye
strabismus: squinting

Retinoblastoma

extension into optic nerve and CSF or invasion of blood vessels and hematogenous spread

136
Q

Flexner-Wintersteiner rosettes - disease? what kind of rosette? prognosis?

A

Retinoblastoma
true rosette - has a lumen
always fatal if untreated - good prognosis with early diagnosis

137
Q

tumor in sacrococcygeal region - diagnosis? other site of involvement? (2) - what type of tissue? prognosis?

A

teratoma
testis and ovaries (germ cell tumor)
75% mature tissue
50% malignant at 1 year, 100% at 5 years

System Path I (5 decks)

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