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Basic Human Pathology > Ch 10: Diseases of Infancy and Childhood > Flashcards

Ch 10: Diseases of Infancy and Childhood Flashcards

1
Q

1 in __ are born with a congenital birth defect each year in the US

A

33

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2
Q

what is a malformation

A

congenital anomaly that is a primary error of morphogenesis
single gene, chromosomal defect, or most commonly multifactorial
ex. syndactyly, cleft lip, and patent foramen ovals

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3
Q

how much amniotic fluid is normal

A

500-1500 mL

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4
Q

what is oligohydraminos

A

less than 100 mL of amniotic fluid
occurs in 1% of pregnancies

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5
Q

what is polyhydraminos

A

more than 2000 mL of amniotic fluid
occurs in 4% of pregnancies

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6
Q

what is a cotyledon

A

maternal surface of placenta once birthed

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7
Q

what is a monochorionic

A

one placental disc

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8
Q

what is a disruption

A

a congenital anomaly that’s a secondary destruction of an organ that was previously normal during development
extrinsic disturbance in development
not inherited
ex. amniotic bands

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9
Q

what are amniotic bands

A

a type of disruption in the amnion which leads to bands that can wrap around and compress parts of a developing fetus
leads to amniotic band syndrome

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10
Q

what is another name for amniotic band syndrome

A

amniotic deformities, adhesions, mutilations (ADAM complex)

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11
Q

what is a deformation

A

congenital anomaly where there is a extrinsic disturbance of development
compression of growing fetus due to something like oligohydraminos leads to a structural abnormality such as clubbed feet

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12
Q

what is clubbed feet

A

feet turn inwards due to bone misalignment or shortened achilles (deformation)

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13
Q

what is rockerbottom foot

A

talus bone forms in the wrong position causing the other bones to shift on top of it
intrinsic disturbance typically due to a gene mutation (Edward’s syndrome)

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14
Q

what is sequence

A

a congenital cascade of anomalies triggered by one initiation deviation from normal
usually caused by oligohydraminos
ex. Potter sequence

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15
Q

what are the two most common causes of oligohydraminos

A

renal agenesis (kidneys don’t develop so no urine being produced)
amniotic leak

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16
Q

what is Potter sequence

A

type of anomaly sequence caused by a premature rupture of membranes
presents with: flattened faces, odd hand and feet positioning, small lungs, and clubfeet

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17
Q

what is syndrome (malformation)

A

a type of congenital anomaly where there is a recognizable pattern of anomalies within a common underlying etiology

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18
Q

what are 4 recognizable anomalies of Marfan syndrome

A

tall stature
long extremities
breastbone deformity
lens dislocation

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19
Q

what are the three main causes of anomalies

A

genetic
environmental
multifactorial inheritance

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20
Q

what is the most frequent cause of anomalies and what is its frequency

A

genetic, specifically chromosome abnormalities
10-15%

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21
Q

what is multifactorial inheritance

A

interaction of environmental influences with two or more genes of small effect

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22
Q

what is the most common genetic etiology of congenital malformation

A

multifactorial inheritance

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23
Q

what is prematurity

A

gestational age less than 37 weeks

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24
Q

what is the second most cause of neonatal mortality

A

prematurity

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25
Q

what is preterm premature rupture of membranes (PPROM)

A

rupture of membranes before 37 weeks
cause of 1/3rd of all preterm deliveries

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26
Q

what are 5 clinical risk factors of PPROM

A

prior history of preterm births
preterm labor or bleeding
smoking
low socioeconomic status
poor material nutrition

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27
Q

what is chorioamnionitis

A

inflammation of the placental membranes

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28
Q

what is funisitis

A

inflammation of the fetal umbilical cord

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29
Q

what two diseases in low income countries are significant contributors to preterm labor

A

malaria and HIV

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30
Q

what is the dominant organism found in bacterial vaginosis

A

gardenrella vaginalis

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31
Q

congenital anomaly that is a primary error of morphogenesis
single gene, chromosomal defect, or most commonly multifactorial
ex. syndactyly, cleft lip, and patent foramen ovals

A

what is a malformation

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32
Q

less than 100 mL of amniotic fluid
occurs in 1% of pregnancies

A

what is oligohydraminos

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33
Q

more than 2000 mL of amniotic fluid
occurs in 4% of pregnancies

A

what is polyhydraminos

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34
Q

maternal surface of placenta once birthed

A

what is a cotyledon

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35
Q

one placental disc

A

what is a monochorionic

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36
Q

a type of disruption in the amnion which leads to bands that can wrap around and compress parts of a developing fetus
leads to amniotic band syndrome

A

what are amniotic bands

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37
Q

amniotic deformities, adhesions, mutilations (ADAM complex)

A

what is another name for amniotic band syndrome

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38
Q

congenital anomaly where there is a extrinsic disturbance of development
compression of growing fetus due to something like oligohydraminos leads to a structural abnormality such as clubbed feet

A

what is a deformation

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39
Q

feet turn inwards due to bone misalignment or shortened achilles (deformation)

A

what is clubbed feet

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40
Q

talus bone forms in the wrong position causing the other bones to shift on top of it
intrinsic disturbance typically due to a gene mutation (Edward’s syndrome)

A

what is rockerbottom foot

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41
Q

a congenital cascade of anomalies triggered by one initiation deviation from normal
usually caused by oligohydraminos
ex. Potter sequence

A

what is sequence

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4
5
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42
Q

type of anomaly sequence caused by a premature rupture of membranes
presents with: flattened faces, odd hand and feet positioning, small lungs, and clubfeet

A

what is Potter sequence

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43
Q

a type of congenital anomaly where there is a recognizable pattern of anomalies within a common underlying etiology

A

what is syndrome (malformation)

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44
Q

interaction of environmental influences with two or more genes of small effect

A

what is multifactorial inheritance

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45
Q

gestational age less than 37 weeks

A

what is prematurity

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46
Q

rupture of membranes before 37 weeks
cause of 1/3rd of all preterm deliveries

A

what is preterm premature rupture of membranes (PPROM)

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47
Q

inflammation of the placental membranes

A

what is chorioamnionitis

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48
Q

inflammation of the fetal umbilical cord

A

what is funisitis

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49
Q

what is full term, but small for gestational age

A

small for gestational age (SGA)

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50
Q

what is full term, but large for gestational age

A

large for gestational age (LGA)

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51
Q

what is the normal weight of a 40 week old fetus

A

3,300 g

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52
Q

what are 6 causes of a small for gestational age fetus

A

preeclampsia
HELLP
maternal narcotic abuse
alcohol intake
cigarette smoking
material malnutrition

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53
Q

what is preeclampsia

A

maternal hypertension

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54
Q

what is hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome

A

life threatening pregnancy complication that is a variant of preeclampsia

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55
Q

what is full term, appropriate for gestational age

A

appropriate for gestational age (AGA)

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56
Q

what is fetal alcohol syndrome

A

fetus who is less than 2500g at birth
presents with: growth retardation, facial anomalies, CNS dysfunction (decreased brain weight and agenesis of the corpus callosum)

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57
Q

what is the most common and important teratogen in humans

A

fetal alcohol syndrome

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58
Q

what is the number one symptom of fetal alcohol syndrome

A

growth and developmental deficiencies

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59
Q

how does maternal diabetes effect a fetus (4 things)

A

leads to macrosomia (large for gestational age), malformations of the heart, spina bifida, and caudal dysplasia

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60
Q

what is macrosomia

A

large for gestational age

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61
Q

what is the percentage of major fetal anomalies of mothers with diabetes

A

6-9%

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62
Q

what is the most common defect in a fetus who’s mother has diabetes

A

congenital heart malformations

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63
Q

maternal hypertension

A

what is preeclampsia

64
Q

life threatening pregnancy complication that is a variant of preeclampsia

A

what is hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome

65
Q

fetus who is less than 2500g at birth
presents with: growth retardation, facial anomalies, CNS dysfunction (decreased brain weight and agenesis of the corpus callous)

A

what is fetal alcohol syndrome

66
Q

leads to macrosomia (large for gestational age), malformations of the heart, spina bifida, and caudal dysplasia

A

how does maternal diabetes effect a fetus

67
Q

large for gestational age

A

what is macrosomia

68
Q

what is the most common cause of neonatal distress syndrome (RDS)

A

hyaline membrane disease (HMD)

69
Q

when is surfactant produced in the fetus

A

after the 35th week

70
Q

which cells secrete surfactant

A

type 2 alveolar cells

71
Q

what do the lungs of a neonatal distress syndrome patient look like

A

solid, airless, and reddish purple
look like the liver and will sink in water

72
Q

what is hyaline membrane disease (HMD)

A

condition where there is not enough surfactant being produced
leads to hypoxemia, carbon dioxide retention, and cyanotic skin

73
Q

what is APGAR score

A

method for reporting the status of the newborn infant immediately after birth and the response to resuscitation if needed

74
Q

what are the 5 things tested for that contribute to the APGAR score

A

heart rate
respiratory effort
muscle tone
reflex
color

75
Q

how is neonatal respiratory distress syndrome treated

A

delivery of surfactant replacement therapy and oxygen

76
Q

what can surfactant and oxygen replacement therapy cause in those with neonatal respiratory distress syndrome

A

retrolental fibroplasia in eyes
bronchopulmonary dysplasia

77
Q

what is retrolental fibroplasia

A

increase in angiogenic factors which leads to abnormal vessel growth in the eyes
avascular retina becomes hypoxic

78
Q

what is bronchopulmonary dysplasia

A

alveoli become damaged

79
Q

how common is necrotizing enterocolitis

A

1 in 10 low birth weight infants

80
Q

how many cases of necrotizing enterocolitis are seen in the US each year

A

2500

81
Q

what is necrotizing enterocolitis

A

bacteria introduced when feeding a premature fetus
typically involutes the terminal ileum, cecum, and right colon
colon becomes distended and may perforate

82
Q

what is pneumatosis intestinalis

A

submucosal gas bubble seen in cases of necrotizing enterocolitis

83
Q

what are the two common routes of acquiring a perinatal infection

A

trancervically and transplacentally

84
Q

what is the transcervical (ascending) route of spread

A

seen mostly with bacteria
travels through amniotic fluid or birth canal
leads to funisitis and choramionitis

85
Q

what is funisitis

A

inflammation of umbilical cord

86
Q

what is the transplancental (hematologic) route of spread

A

seen mostly in parasites and viruses
travels through placental villi

87
Q

what leads to a pale looking placenta

A

meconium (babies first poop)

88
Q

what is SUA

A

single umbilical artery

89
Q

what does the ductus venosus do

A

shunts oxygenated blood from the placenta away from the liver and towards the heart

90
Q

what does the ductus arteriosus do

A

connects the aorta with the pulmonary artery to shunt blood away from the lungs and into the aorta
becomes ligamentum arteriosus after birth

91
Q

condition where there is not enough surfactant being produced
leads to hypoxemia, carbon dioxide retention, and cyanotic skin

A

what is hyaline membrane disease (HMD)

92
Q

method for reporting the status of the newborn infant immediately after birth and the response to resuscitation if needed

A

what is APGAR score

93
Q

increase in angiogenic factors which leads to abnormal vessel growth in the eyes
avascular retina becomes hypoxic

A

what is retrolental fibroplasia

94
Q

alveoli become damaged

A

what is bronchopulmonary dysplasia

95
Q

bacteria introduced when feeding a premature fetus
typically involutes the terminal ileum, cecum, and right colon
colon becomes distended and may perforate

A

what is necrotizing enterocolitis

96
Q

submucosal gas bubble seen in cases of necrotizing enterocolitis

A

what is pneumatosis intestinalis

97
Q

seen mostly with bacteria
travels through amniotic fluid or birth canal
leads to funisitis and choramionitis

A

what is the transcervical (ascending) route of spread

98
Q

inflammation of umbilical cord

A

what is funisitis

99
Q

seen mostly in parasites and viruses
travels through placental villi

A

what is the transplancental (hematologic) route of spread

100
Q

shunts oxygenated blood from the placenta away from the liver and towards the heart

A

what does the ductus venosus do

101
Q

connects the aorta with the pulmonary artery to shunt blood away from the lungs and into the aorta

A

what does the ductus arteriosus do

102
Q

what is hydrops

A

accumulation of edema fluid in the fetus during intrauterine growth

103
Q

what is immune hydrops

A

hemolytic disease caused by group antigen incompatibility between mother and fetus

104
Q

what is non-immune hydrops

A

seen in cases of cardiovascular defects, chromosome anomalies, and fetal anemia

105
Q

what is a cystic hygroma

A

a type of hydrops fetalis where fluid accumulates in the soft tissues of the neck

106
Q

what is kernicterus

A

consequence of fetal hydrops where there is yellow discoloration in the brain due to bilirubin accumulation
most prominent in the basal ganglia deep to the ventricles

107
Q

what is the most serious threat of fetal hydrops

A

kernicterus - CNS damage

108
Q

what are the three main genetic disorders that give rise to defects in metabolism

A

phenylketonuria (PKU)
galactosemia
cystic fibrosis (mucoviscidosis)

109
Q

what is phenylketonuria (PKU)

A

recessive disorder caused by a severe deficiency of the enzyme phenylalanine hydrolase leading to hyperphenylalaninemia
this impairs brain development and can lead to seizures

110
Q

what is galactosemia

A

recessive disorder of galactose metabolism resulting from accumulation of galactose-1-phosphate in liver, spleen, lens of eyes, etc.

111
Q

what is cystic fibrosis (mucoviscidosis)

A

mutations in cystic fibrosis transmembrane regulator (CFTR) protein
defect in ion transport affects fluid secretion in exocrine glands and the epithelial lining of the respiratory, GI, and reproductive tracts
viscid mucous obstructors organ passageways

112
Q

what is the most common lethal genetic disease that affects the Caucasian population

A

cystic fibrosis

113
Q

how does cystic fibrosis affect the pancreas

A

can block duct of wirsung and santorinis duct which eventually leads to fibrosis

114
Q

97-98% of men with cystic fibrosis experience which symptom

A

absence of vas defers and epididymal atrophy

115
Q

what is meconium ileum

A

intestinal obstruction caused by thick meconium from cystic fibrosis
can lead to volvulus or perforation

116
Q

what is volvulus

A

twisting in on itself

117
Q

85-90% of cystic fibrosis patients have which symptom

A

exocrine pancreatic insufficiency

118
Q

how is the liver affected by cystic fibrosis

A

plugged bile canaliculi and biliary cirrhosis

119
Q

what is sudden infant death syndrome (SIDS)

A

postmortem diagnosis that identifies an infant, less than 1 yr old, who dies a sudden and unexpected natural death during sleep

120
Q

what are four causes of SIDS

A

smoking, anemia, prone sleeping, and co-sleeping

121
Q

what are some common autopsy findings in SIDS cases

A

thymic, pleural, and epicardial petechiae
lungs hyper inflated with congestion

122
Q

what is cephalohematoma

A

hemorrhage occurring in the scalp
blood accumulates between the bone and periosteum, typically only on one area of the bone and doesn’t cross suture lines

123
Q

what are two technique to help stuck babies

A

vacuum assisted birth and forceps assisted birth

124
Q

what is the most frequent cranial birth injury

A

cephalohematoma

125
Q

what is a scleral subconjunctival hemorrhage

A

hemorrhage of eye due to birth trauma

126
Q

what is shoulder dystocia

A

obstetric emergency where shoulders won’t come out during delivery
can lead to brachial plexus injuries, hypoxia, and more

127
Q

which percentage of malignant tumors occur in infancy and childhood

A

2%

128
Q

what are the most common neoplasms of childhood

A

soft-tissue tumors of mesenchymal derivation

129
Q

what is the most common tumor of infancy

A

hemangioma

130
Q

what is a hemangioma

A

benign, pink-red spots that can be flat or raised
port-wine stain that can spontaneously regress

131
Q

what is neuroblastoma

A

tumors of sympathetic ganglia and adrenal medulla that are derived from primordial neural crest cells populating these sites

132
Q

what is the most common extra cranial solid tumor of childhood

A

neuroblastoma

133
Q

what is the most frequently diagnosed infant malignancy

A

neuroblastoma

134
Q

which percentage of neuroblastomas are in the adrenal medulla vs the sympathetic chain

A

medulla: 40%
sympathetic chain: 60%

135
Q

what does a ganlioneuroblastoma look like

A

almost looks like a leiomyoma

136
Q

what is a wilms tumor (nephroblastoma)

A

malignant, renal tumor associated with WAGR, denys-drash, and beckwith-wiedemann syndromes

137
Q

what is the most common primary renal tumor of childhood

A

wilms tumor (nephroblastoma)

138
Q

what is the fourth most common pediatric malignancy in the US

A

wilms tumor (nephroblastoma)

139
Q

what are the 4 things WAGR syndrome is characterized by

A

wilms tumor
aniridia (absence of iris)
genitourinary anomalies
retardation

140
Q

which percentage of Wilms tumors are bilateral or multi centric

A

10%

141
Q

accumulation of edemic fluid in the fetus during intrauterine growth

A

what is hydrops

142
Q

hemolytic disease caused by group antigen incompatibility between mother and fetus

A

what is immune hydrops

143
Q

seen in cases of cardiovascular defects, chromosome anomalies, and fetal anemia

A

what is non-immune hydrops

144
Q

a type of hydrops fetalis where fluid accumulates in the soft tissues of the neck

A

what is a cystic hygroma

145
Q

consequence of fetal hydrops where there is yellow discoloration in the brain due to bilirubin accumulation
most prominent in the basal ganglia deep to the ventricles

A

what is kernicterus

146
Q

recessive disorder caused by a severe deficiency of the enzyme phenylalanine hydrolase leading to hyperphenylalaninemia
this impairs brain development and can lead to seizures

A

what is phenylketonuria (PKU)

147
Q

recessive disorder of galactose metabolism resulting from accumulation of galactose-1-phosphate in liver, spleen, lens of eyes, etc.

A

what is galactosemia

148
Q

mutations in cystic fibrosis transmembrane regulator (CFTR) protein
defect in ion transport affects fluid secretion in exocrine glands and the epithelial lining of the respiratory, GI, and reproductive tracts
viscid mucous obstructors organ passageways

A

what is cystic fibrosis (mucoviscidosis)

149
Q

intestinal obstruction caused by thick meconium from cystic fibrosis
can lead to volvulus or perforation

A

what is meconium ileum

150
Q

twisting in on itself

A

what is volvulus

151
Q

postmortem diagnosis that identifies an infant, less than 1 yr old, who dies a sudden and unexpected natural death during sleep

A

what is sudden infant death syndrome (SIDS)

152
Q

hemorrhage occurring in the scalp
blood accumulates between the bone and periosteum, typically only on one area of the bone and doesn’t cross suture lines

A

what is cephalohematoma

153
Q

hemorrhage of eye due to birth trauma

A

what is a scleral subconjunctival hemorrhage

154
Q

obstetric emergency where shoulders won’t come out during delivery
can lead to brachial plexus injuries, hypoxia, and more

A

what is shoulder dystocia

155
Q

benign, pink-red spots that can be flat or raised
port-wine stain that can spontaneously regress

A

what is a hemangioma

156
Q

tumors of sympathetic ganglia and adrenal medulla that are derived from primordial neural crest cells populating these sites

A

what is neuroblastoma

157
Q

malignant, renal tumor associated with WAGR, denys-drash, and beckwith-wiedemann syndromes

A

what is a wilms tumor (nephroblastoma)

Basic Human Pathology (18 decks)

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