Pediatrics Flashcards
1
Q
neonatal age range
A
birth to 4 weeks
2
Q
infancy age range
A
1 year
3
Q
early childhood age range
A
1-4 years
4
Q
late childhood range
A
5-14 years
5
Q
top 3 most common causes of death in kids < 1yr
A
congenital malformations
complications from being premature or low birth wt
SIDS
6
Q
top 4 most common causes of death in kids 1-4 yrs
A
injuries
congenital malformations
malignancies
homicide
7
Q
top 5 most common causes of death in kids 5-14
A
injuries malignancies homicide congenital malformations suicide
8
Q
describe caput succedaneum
A
birth injury - scalp squeezed against skull - obstructs venous and lymph draining - born with bump on head
9
Q
describe cephalohematoma including 2 complications
A
birth injury - hemorrhage beneath periostium
anemia and jaundice
10
Q
most common birth injury?
A
clavicle injury
11
Q
most signifiant birth injury?
A
intracranial hemorrhage
12
Q
Simian crease, epicanthic crease, flat faced, floppy - disease?
A
trisomy 21 - downs
13
Q
trisomy 18
A
Edwards
14
Q
trisomy 13
A
Patau
15
Q
thymic and parathyroid hypoplasia - disease? genetics? symptoms (2)? detection?
A
DiGeorge
22q11 deletion
psychoses, hypocalcemia
FISH
16
Q
congenital heart disease, palatal abnormalities, facial dysmorphism, developmental delay - disease? genetics? symptom? detection?
A
Velocardiofacial syndrome
22q11 deletion
psychoses
FISH
17
Q
male hypogonadism, severe testicular atrophy, eunuchoid - disease? genetics?
A
klinefelter’s
XXY or XXXY
18
Q
short, low hair line, neck webbing, lymphedema - disease? genetics?
A
Turner’s
45 XO
19
Q
widely spaced nipples, streak ovaries, amenorrhea - disease? genetics?
A
Turner’s
45 XO
20
Q
drug involved with missing limbs
A
thalidomide
21
Q
narrow palpable fissures
A
fetal alcohol syndrome
22
Q
large baby, large organs
A
Maternal diabetes
23
Q
most common genetic cause of congenital malformations
A
multifactorial (polygenic) inheritance
environment + 2 or more genes of small effect
24
Q
what weeks of development can organ development be affected?
A
3-8 weeks
25
primary structural abnormality with poor formation of tissue due to localized error, normal otherwise - name and 3 examples
malformation
poly or syndactyly
cleft lip/palate
congenital heart disease
26
structural defect caused by secondary destruction of a previously normally formed part from an extrinsic disturbance in morphogenesis - name and example?
disruption
| amniotic bands
27
localized or generalized compression fetus by abnormal biomechanical forces - name and examples?
deformation (later that malformations)
uterine constraint most common due to:
small uterus, leiomyoma, multiple fetuses, oligohydramnios
28
club foot is an example of what type of birth defect?
deformation
29
multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis - name and example?
sequence
| Potter sequence
30
oligohydramnios, renal agenesis - name and consequences (3)?
Potter sequence
pulmonary hypoplasia
amnion nodosum
fetal compression
31
nodules on amnion - name and what causes it?
amnion nodosum
| friction from oligohydramnios
32
presence of 1 or more developmental anomalies of 2 or more systems due to a common etiology - name and 2 common examples?
syndrome
down syndrome
XXY (Kleinfelter's)
33
IUGR is what?
Intrauterine Growth Retardation
34
normal gestational period?
37-42 weeks
35
SGA - what does it stand for and what does it mean?
small for gestational age - birth weight below 10th percentile
36
LGA - what does it stand for and what does it mean?
large for gestational age - birth weight above 90th percentile
37
AGA - what does it stand for and what does it mean?
appropriate for gestation age - birth weight between 10th and 90th percentiles
38
actual wt considered to be low birth weight
<= 2,500 g
39
3 types of IUGR and how they relate to brain
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
40
is smoking more closely related to congenital anomalies or SIDS? Other associations?
SIDS
spontaneous abortions
premature labor
low birth wt
41
what does Apgar Score predict? what does it stand for? Scoring?
```
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
42
When do you take an Apgar Score? What does a score of 1 at 5 min mean?
1 and 5 min after birth
| 50% chance of mortality
43
leading cause of morbidity and mortality in premature infants? responsible for how many neonate deaths?
RDS or hyaline membrane disease
| 50% of all neonate deaths in USA
44
explain how maternal diabetes can lead to RDS of the newborn?
diabetes in mother leads to increased insulin in fetus - insulin suppresses surfactant production leading to decreased surfactant
45
grunting baby with bell shaped thorax - disease? what do you see on x-ray? autopsy?
RDS or hyaline membrane disease
ground glass appearance
lungs are solid, airless, purple - look like liver
46
baby presents with RDS and dies in first several hours of life - what do you see on microscopy? why?
necrotic cellular debris, no inflammation
| hyaline membranes aren't produced until 12-24 hours
47
baby with RDS has been alive 15 hours, what do you see on microscopy? what is it made of?
smooth pink membranes
| necrotic type II pneumocytes and fibrin - no inflammatory cells
48
what do you see on microscopy in an infant with RDS who has survived several days?
proliferation of type II pneumocytes and interstitial fibrosis
49
what is retrolental fibroplasia? how do you get it?
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
50
what is bronchopulmonary dysplasia? What is it associated with?
sequelae of RDS -> alveolar hypoplasia (decrease in number of mature alveoli)
Associated with increased levels of proinflammatory cytokines (TNF, IL-1, IL-8)
51
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?
RDS
52
A newborn begins oral feeding and develops vomiting, blood tinged diarrhea and a distended abdomen. Diagnosis? What do you see on x-ray? Complications?
Neonatal Necrotizing Entercolitis (NEC)
dilated loops of bowel (gas filled) and pneumatosis intestinalis
shock, DIC, death
53
pneumatosis intestinalis - what is it? what do you see on x-ray? microscopy?
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)
54
NEC affects what parts of the bowel?
terminal ileum, caecum, right colon
55
short gut syndrome, malabsorption, and strictures are delayed complications of what? Name 3 early ones
Neonatal Necrotizing Entercolitis (NEC)
| sepsis, DIC, perforation
56
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?
germinal matrix
| anoxia
57
what grade is a hemorrhage of the germinal matrix with intraventricular extension without dilation?
II
58
what grade is a hemorrhage of the germinal matrix with intraventricular extension with dilation?
III
59
what grade is a hemorrhage of the germinal matrix with intraventricular and intraparenchymal extension?
IV
60
long term sequelae of neonatal intraventricular hemorrhage (3)
cavitations surrounded by hemosiderin laden macrophages
gliosis
hydrocephalus
61
child acutely develops apnea, bradycardia, turns pale and develops a seizure - cause? what do you see on physical exam?
neonatal intraventricular hemorrhage
| bulging anterior fontanelle
62
at what level does bilirubin start having clinical manifestations in neonate?
>5 mg/dl
63
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?
unconjugated
physiological jaundice
2 weeks
64
name 3 features of pathological jaundice?
jaundice appearing in first 24 hours of life
total bilirubin >15 mg/dl (hyperbilirubinemia)
conjugated bilirubin > 2 mg/dl
65
Crigler-Najjar syndrome leads to what type of jaundice (2 classifications)
pathological
| unconjugated hyperbilirubinemia
66
neonatal hepatitis leads to what type of jaundice (2 classifications)
pathological
| conjugated hyperbilirubinemia
67
explain erythroblastosis fetalis
aka hemolytic disease of newborn
| maternal Abs attack fetus - can be due to Rh antigen or ABO blood groups
68
what type of bilirubin leads to kernicterus and what is it? what areas specifically are affected?
unconjugated
deposition of bilirubin in the brain
basal ganglia and brain stem
69
autopsy of infant shows bile stained organs, erythroblastic hyperplasia of bone marrow and extramedullary hematopoiesis in liver and spleen - condition?
hydrops fetalis
70
how do you treat kernicterus? how do you avoid this condition?
phototherapy - light breaks down bilirubin into excretable components
give anti-D globulin with 72 hours of delivery
71
what is general difference between maternal antigens against Rh groups and maternal antigens agains ABO groups?
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
complete absence of UDP-glucuronyltransferase activity - disease? prognosis?
Crigler-Najjar Disease - Type I
| most die first year of life
73
partial decrease of UDP-glucuronyltransferase activity - disease? prognosis? treatment?
Crigler-Najjar Disease - Type II
less severe than type I
treat with phenobarbital -> synthesis of deficient enzyme
74
complete obstruction of lumen in extrahepatic biliary tree within first three months of life - name of condition? most common treatment?
biliary atresia
| number 1 reason for liver transplant in that age group
75
early onset neonatal cholestasis, no jaundice free period after onset - name of condition? subtype? associated finding?
biliary atresia
Embryonic/fetal type
other congenital anomalies
76
late onset neonatal cholestasis (4-8 weeks), jaundice free interval - name of condition? subtype? how does it happen?
biliary atresia
Perinatal type
acquired infection usually
77
marked bile ductular proliferation, portal tract edema and fibrosis, parenchymal cholestasis - diagonsis? treatment and survival?
extrahepatic biliary obstruction
| 75% survival first 60 days, 20-30% if operate after 90, 80% with transplant
78
half of all neonatal hepatitis, ballooning of hepatocytes, acidophilic degeneration - name? prognosis?
ideopathic hepatits aka giant cell hepatitis
| 75-90% surivival
79
prone sleeping - what is it? what can it lead to?
sleeping on stomach
| SCIDS
80
prolonged spell of apnea followed by cardiac arrhythmia in infant - diagnosis? most common finding on lungs?
SCIDS
| petechiae
81
petechiae on lungs, heart, thymus, gliosis of brain stem, RV hypertrophy - diagnosis?
SCIDS
82
trophoblasts are present in what structure of pregnancy and what do they do?
part of chorion, protect against infection
83
what is the only virus involved in ascending infections of fetus?
herpes simplex
84
name 2 common routes fetus gets infected by ascending infection
inhalation of infected amniotic fluid
| passage through birth canal
85
inflammation of the umbilical cord?
funisitis
86
infects RBCs and can lead to hypoplastic anemia - diagonsis? how does fetus acquire?
parvovirus B19
| hematogenous route
87
common neonatal infection organisms
```
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
chorioretinitis, osteomyelitis, periventricular calcification, SGA infants - diagnosis?
TORCH infection
89
cataracts, microphthalmia, PDA - diagnosis?
Rubella
90
deeply basophilic nuclear inclusions
CMV
91
eosinophilic inclusion bodies, syncytial cells
herpes simplex
92
chronic pulmonary disease, deficient exocrine pancreatic function, inspissated mucus - disease? pathogenesis?
CF
| defective CFTR - Cl- can't leave cell, Na doesnt leave cell, H20 doesnt leave cell, sticky mucous
93
7q31.2 mutation - disease?
CF
94
F508 - disease? what type of problem is it?
CF
| 3 base pair deletion - loss of phenylalanine
95
difference between bronchiectasis and CF with respect to lungs?
bronchiectasis: lower lung lobe
CF: upper lobe
96
meconium ileus - what is it? what disease is it associated with? 2 complications?
impaction of meconium in terminal ileus
CF
perforation and peritonitis
97
lack of vas deferens - disease?
CF
98
foul smelling steatorrhea, malnutrition, failure to thrive? - disease?
CF
99
nasal polyps, rectal prolapse
CF
100
mousy odor of diaper - disease? how to treat? complication?
Phenylketonuria
restrict phenylalanine in diet
irreversible brain damage
101
defective melanin production? disease? deficient enzyme?
```
PKU
phenylalanine hydroxylase (PAH)
```
102
infants fed milk rapidly develop hepatosplenomegaly, jaundice and hypoglycemia can lead to cataracts and mental retardation - disease? how to treat?
Galactosemia
| give galactose free milk
103
extensive and uniform fat accumulation in the liver, bile duct proliferation, cholestasis and fibrosis - disease?
galactosemia
104
intermittent jaundice with a black liver - disease? what causes it?
Dubin-Johnson syndrome
| defective transport of conjugated bilirubin from hepatocytes to canalicular lumen
105
defect in hepatic excretion of coproporyphrins is associated with what disorder?
Dubin-Johnson syndrome
106
mild intermittent jaundice, mostly asymptomatic, serum bilirubin 2-5mg/dl - disease? what cells are involved? what is pigment made of?
Dubin-Johnson syndrome
hepatocytes and kupffer cells (pigment accumulates here)
polymers of epinephrine metabolites NOT BILIRUBIN
107
defect of excretion of conjugated bilirubin into biliary canaliculi with bilirubin being absorbed into blood - disease?
Rotor Syndrome
108
jaundice, attacks of intermittent epigastric discomfort, abdominal pain, fever with low-grade pigment deposition - disease?
Rotor Syndrome
109
what age group does Wilm's tumor affect?
0-4 years
110
what age group does Ewing tumor affect?
5-9 years
111
are cancers more severe in children or adults?
WAY more severe in adults, much higher mortality
112
Deletion 13q increases risk of what kind of cancer?
Retinoblastoma
113
Wiskott Aldrich Syndrome increases risk of what kind of cancer?
lymphoma
114
Agammaglobulinemia increases risk of what kind of cancer?
ALL
115
small, round, blue cells - indicative of what? what type of tissue?
description of solid childhood tumors
| embryonal tissue
116
tumor of primitive neural crest cells - disease? what do these cells normally develop into?
Neuroblastoma
| adrenal medulla and sympathetic ganglia
117
blueberry muffin baby - disease?
Neuroblastoma
118
<2 year old, mass in abdomen and mediastinum, can form cyst - synaptophysin (+) - disease?
Neuroblastoma
119
neuropil and Homer-wright pseudo rosettes - disease? why are they pseudo rosettes? most common site of metastasis?
Neuroblastoma
pseudo because no lumen
bone lymph nodes
120
elevated blood levels of catecholamines and elevated urine VMA and HVA indicate what? what other test should you order and why?
Neuroblastoma
| X-ray to look for calcifications of tumor
121
Staging of Neuroblastoma
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
how does age relate to prognosis of neuroblastoma?
the younger the better the prognosis:
| 5 = poor
123
deletion of 1p and gain of 17q and n-myc amplificaiton - disease? prognosis?
neuroblastoma
| poor
124
increased Tyrosine kinase receptor (Trk-A) - disease? prognosis?
neuroblastoma
| good prognosis
125
neuroblastoma can spontaneously regress in 3-7% of patients, why? 2 reasons
necrosis
| spontaneous differentiation
126
most common primary renal tumor of children?
Wilms tumor
127
associated with WAGR syndrome, Denys-Drash syndrome, and Beckwith-Wiedemann syndrome what gene is mutated in each of these and what disease?
WAGR syndrome, Denys-Drash syndrome: WT1
Beckwith-Wiedemann syndrome: WT2
Wilm's tumor
128
macroglossia, omphaelocele, unilateral gigantism - disease? associated with what other disease?
Beckwith-Wiedemann syndrome
| Wilm's tumor
129
beta-catenin gene mutations are associated with what childhood cancer?
Wilm's tumor
130
child with aniridia and mental retardation has a 33% chance of developing what kind of cancer? what is the name of this predisposing condition?
```
Wilm's tumor
WAGR syndrome (A for aniridia)
```
131
small triangular areas under cortex of kidneys are called what? what are they indicative of?
nephrogenic rests
| precursor lesions to cancer
132
this tumor is soft, tan to gray, bleeds easily, well circumscribed and have a triphasic pattern with blastema, stroma, and epithelium
Wilm's tumor
133
mass in kidney has hyperchromatic nuclei and have cells that are 3 times larger than adjacent cell types with mitotic figures - disease? prognosis?
Wilm's tumor - anaplastic subtype
| worst prognosis
134
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?
Wilm's tumor
| 3 L's: lymph nodes, liver, lungs ONLY
135
2 year old presents with leukocoria, spontaneous hyphema, and strabismus - define these terms and give a diagnosis - explain 2 methods of spread
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
Flexner-Wintersteiner rosettes - disease? what kind of rosette? prognosis?
Retinoblastoma
true rosette - has a lumen
always fatal if untreated - good prognosis with early diagnosis
137
tumor in sacrococcygeal region - diagnosis? other site of involvement? (2) - what type of tissue? prognosis?
teratoma
testis and ovaries (germ cell tumor)
75% mature tissue
50% malignant at 1 year, 100% at 5 years
