Ch 10: Diseases of Infancy and Childhood Flashcards
1 in __ are born with a congenital birth defect each year in the US
33
what is a malformation
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
how much amniotic fluid is normal
500-1500 mL
what is oligohydraminos
less than 100 mL of amniotic fluid
occurs in 1% of pregnancies
what is polyhydraminos
more than 2000 mL of amniotic fluid
occurs in 4% of pregnancies
what is a cotyledon
maternal surface of placenta once birthed
what is a monochorionic
one placental disc
what is a disruption
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
what are amniotic bands
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
what is another name for amniotic band syndrome
amniotic deformities, adhesions, mutilations (ADAM complex)
what is a deformation
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
what is clubbed feet
feet turn inwards due to bone misalignment or shortened achilles (deformation)
what is rockerbottom foot
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)
what is sequence
a congenital cascade of anomalies triggered by one initiation deviation from normal
usually caused by oligohydraminos
ex. Potter sequence
what are the two most common causes of oligohydraminos
renal agenesis (kidneys don’t develop so no urine being produced)
amniotic leak
what is Potter sequence
type of anomaly sequence caused by a premature rupture of membranes
presents with: flattened faces, odd hand and feet positioning, small lungs, and clubfeet
what is syndrome (malformation)
a type of congenital anomaly where there is a recognizable pattern of anomalies within a common underlying etiology
what are 4 recognizable anomalies of Marfan syndrome
tall stature
long extremities
breastbone deformity
lens dislocation
what are the three main causes of anomalies
genetic
environmental
multifactorial inheritance
what is the most frequent cause of anomalies and what is its frequency
genetic, specifically chromosome abnormalities
10-15%
what is multifactorial inheritance
interaction of environmental influences with two or more genes of small effect
what is the most common genetic etiology of congenital malformation
multifactorial inheritance
what is prematurity
gestational age less than 37 weeks
what is the second most cause of neonatal mortality
prematurity
what is preterm premature rupture of membranes (PPROM)
rupture of membranes before 37 weeks
cause of 1/3rd of all preterm deliveries
what are 5 clinical risk factors of PPROM
prior history of preterm births
preterm labor or bleeding
smoking
low socioeconomic status
poor material nutrition
what is chorioamnionitis
inflammation of the placental membranes
what is funisitis
inflammation of the fetal umbilical cord
what two diseases in low income countries are significant contributors to preterm labor
malaria and HIV
what is the dominant organism found in bacterial vaginosis
gardenrella vaginalis
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
what is a malformation
less than 100 mL of amniotic fluid
occurs in 1% of pregnancies
what is oligohydraminos
more than 2000 mL of amniotic fluid
occurs in 4% of pregnancies
what is polyhydraminos
maternal surface of placenta once birthed
what is a cotyledon
one placental disc
what is a monochorionic
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
what are amniotic bands
amniotic deformities, adhesions, mutilations (ADAM complex)
what is another name for amniotic band syndrome
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
what is a deformation
feet turn inwards due to bone misalignment or shortened achilles (deformation)
what is clubbed feet
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)
what is rockerbottom foot
a congenital cascade of anomalies triggered by one initiation deviation from normal
usually caused by oligohydraminos
ex. Potter sequence
what is sequence
type of anomaly sequence caused by a premature rupture of membranes
presents with: flattened faces, odd hand and feet positioning, small lungs, and clubfeet
what is Potter sequence
a type of congenital anomaly where there is a recognizable pattern of anomalies within a common underlying etiology
what is syndrome (malformation)
interaction of environmental influences with two or more genes of small effect
what is multifactorial inheritance
gestational age less than 37 weeks
what is prematurity
rupture of membranes before 37 weeks
cause of 1/3rd of all preterm deliveries
what is preterm premature rupture of membranes (PPROM)
inflammation of the placental membranes
what is chorioamnionitis
inflammation of the fetal umbilical cord
what is funisitis
what is full term, but small for gestational age
small for gestational age (SGA)
what is full term, but large for gestational age
large for gestational age (LGA)
what is the normal weight of a 40 week old fetus
3,300 g
what are 6 causes of a small for gestational age fetus
preeclampsia
HELLP
maternal narcotic abuse
alcohol intake
cigarette smoking
material malnutrition
what is preeclampsia
maternal hypertension
what is hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome
life threatening pregnancy complication that is a variant of preeclampsia
what is full term, appropriate for gestational age
appropriate for gestational age (AGA)
what is fetal alcohol syndrome
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)
what is the most common and important teratogen in humans
fetal alcohol syndrome
what is the number one symptom of fetal alcohol syndrome
growth and developmental deficiencies
how does maternal diabetes effect a fetus (4 things)
leads to macrosomia (large for gestational age), malformations of the heart, spina bifida, and caudal dysplasia
what is macrosomia
large for gestational age
what is the percentage of major fetal anomalies of mothers with diabetes
6-9%
what is the most common defect in a fetus who’s mother has diabetes
congenital heart malformations
maternal hypertension
what is preeclampsia
life threatening pregnancy complication that is a variant of preeclampsia
what is hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome
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)
what is fetal alcohol syndrome
leads to macrosomia (large for gestational age), malformations of the heart, spina bifida, and caudal dysplasia
how does maternal diabetes effect a fetus
large for gestational age
what is macrosomia
what is the most common cause of neonatal distress syndrome (RDS)
hyaline membrane disease (HMD)
when is surfactant produced in the fetus
after the 35th week
which cells secrete surfactant
type 2 alveolar cells
what do the lungs of a neonatal distress syndrome patient look like
solid, airless, and reddish purple
look like the liver and will sink in water
what is hyaline membrane disease (HMD)
condition where there is not enough surfactant being produced
leads to hypoxemia, carbon dioxide retention, and cyanotic skin
what is APGAR score
method for reporting the status of the newborn infant immediately after birth and the response to resuscitation if needed
what are the 5 things tested for that contribute to the APGAR score
heart rate
respiratory effort
muscle tone
reflex
color
how is neonatal respiratory distress syndrome treated
delivery of surfactant replacement therapy and oxygen
what can surfactant and oxygen replacement therapy cause in those with neonatal respiratory distress syndrome
retrolental fibroplasia in eyes
bronchopulmonary dysplasia
what is retrolental fibroplasia
increase in angiogenic factors which leads to abnormal vessel growth in the eyes
avascular retina becomes hypoxic
what is bronchopulmonary dysplasia
alveoli become damaged
how common is necrotizing enterocolitis
1 in 10 low birth weight infants
how many cases of necrotizing enterocolitis are seen in the US each year
2500
what is necrotizing enterocolitis
bacteria introduced when feeding a premature fetus
typically involutes the terminal ileum, cecum, and right colon
colon becomes distended and may perforate
what is pneumatosis intestinalis
submucosal gas bubble seen in cases of necrotizing enterocolitis
what are the two common routes of acquiring a perinatal infection
trancervically and transplacentally
what is the transcervical (ascending) route of spread
seen mostly with bacteria
travels through amniotic fluid or birth canal
leads to funisitis and choramionitis
what is funisitis
inflammation of umbilical cord
what is the transplancental (hematologic) route of spread
seen mostly in parasites and viruses
travels through placental villi
what leads to a pale looking placenta
meconium (babies first poop)
what is SUA
single umbilical artery
what does the ductus venosus do
shunts oxygenated blood from the placenta away from the liver and towards the heart
what does the ductus arteriosus do
connects the aorta with the pulmonary artery to shunt blood away from the lungs and into the aorta
becomes ligamentum arteriosus after birth
condition where there is not enough surfactant being produced
leads to hypoxemia, carbon dioxide retention, and cyanotic skin
what is hyaline membrane disease (HMD)
method for reporting the status of the newborn infant immediately after birth and the response to resuscitation if needed
what is APGAR score
increase in angiogenic factors which leads to abnormal vessel growth in the eyes
avascular retina becomes hypoxic
what is retrolental fibroplasia
alveoli become damaged
what is bronchopulmonary dysplasia
bacteria introduced when feeding a premature fetus
typically involutes the terminal ileum, cecum, and right colon
colon becomes distended and may perforate
what is necrotizing enterocolitis
submucosal gas bubble seen in cases of necrotizing enterocolitis
what is pneumatosis intestinalis
seen mostly with bacteria
travels through amniotic fluid or birth canal
leads to funisitis and choramionitis
what is the transcervical (ascending) route of spread
inflammation of umbilical cord
what is funisitis
seen mostly in parasites and viruses
travels through placental villi
what is the transplancental (hematologic) route of spread
shunts oxygenated blood from the placenta away from the liver and towards the heart
what does the ductus venosus do
connects the aorta with the pulmonary artery to shunt blood away from the lungs and into the aorta
what does the ductus arteriosus do
what is hydrops
accumulation of edema fluid in the fetus during intrauterine growth
what is immune hydrops
hemolytic disease caused by group antigen incompatibility between mother and fetus
what is non-immune hydrops
seen in cases of cardiovascular defects, chromosome anomalies, and fetal anemia
what is a cystic hygroma
a type of hydrops fetalis where fluid accumulates in the soft tissues of the neck
what is kernicterus
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
what is the most serious threat of fetal hydrops
kernicterus - CNS damage
what are the three main genetic disorders that give rise to defects in metabolism
phenylketonuria (PKU)
galactosemia
cystic fibrosis (mucoviscidosis)
what is phenylketonuria (PKU)
recessive disorder caused by a severe deficiency of the enzyme phenylalanine hydrolase leading to hyperphenylalaninemia
this impairs brain development and can lead to seizures
what is galactosemia
recessive disorder of galactose metabolism resulting from accumulation of galactose-1-phosphate in liver, spleen, lens of eyes, etc.
what is cystic fibrosis (mucoviscidosis)
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
what is the most common lethal genetic disease that affects the Caucasian population
cystic fibrosis
how does cystic fibrosis affect the pancreas
can block duct of wirsung and santorinis duct which eventually leads to fibrosis
97-98% of men with cystic fibrosis experience which symptom
absence of vas defers and epididymal atrophy
what is meconium ileum
intestinal obstruction caused by thick meconium from cystic fibrosis
can lead to volvulus or perforation
what is volvulus
twisting in on itself
85-90% of cystic fibrosis patients have which symptom
exocrine pancreatic insufficiency
how is the liver affected by cystic fibrosis
plugged bile canaliculi and biliary cirrhosis
what is sudden infant death syndrome (SIDS)
postmortem diagnosis that identifies an infant, less than 1 yr old, who dies a sudden and unexpected natural death during sleep
what are four causes of SIDS
smoking, anemia, prone sleeping, and co-sleeping
what are some common autopsy findings in SIDS cases
thymic, pleural, and epicardial petechiae
lungs hyper inflated with congestion
what is cephalohematoma
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
what are two technique to help stuck babies
vacuum assisted birth and forceps assisted birth
what is the most frequent cranial birth injury
cephalohematoma
what is a scleral subconjunctival hemorrhage
hemorrhage of eye due to birth trauma
what is shoulder dystocia
obstetric emergency where shoulders won’t come out during delivery
can lead to brachial plexus injuries, hypoxia, and more
which percentage of malignant tumors occur in infancy and childhood
2%
what are the most common neoplasms of childhood
soft-tissue tumors of mesenchymal derivation
what is the most common tumor of infancy
hemangioma
what is a hemangioma
benign, pink-red spots that can be flat or raised
port-wine stain that can spontaneously regress
what is neuroblastoma
tumors of sympathetic ganglia and adrenal medulla that are derived from primordial neural crest cells populating these sites
what is the most common extra cranial solid tumor of childhood
neuroblastoma
what is the most frequently diagnosed infant malignancy
neuroblastoma
which percentage of neuroblastomas are in the adrenal medulla vs the sympathetic chain
medulla: 40%
sympathetic chain: 60%
what does a ganlioneuroblastoma look like
almost looks like a leiomyoma
what is a wilms tumor (nephroblastoma)
malignant, renal tumor associated with WAGR, denys-drash, and beckwith-wiedemann syndromes
what is the most common primary renal tumor of childhood
wilms tumor (nephroblastoma)
what is the fourth most common pediatric malignancy in the US
wilms tumor (nephroblastoma)
what are the 4 things WAGR syndrome is characterized by
wilms tumor
aniridia (absence of iris)
genitourinary anomalies
retardation
which percentage of Wilms tumors are bilateral or multi centric
10%
accumulation of edemic fluid in the fetus during intrauterine growth
what is hydrops
hemolytic disease caused by group antigen incompatibility between mother and fetus
what is immune hydrops
seen in cases of cardiovascular defects, chromosome anomalies, and fetal anemia
what is non-immune hydrops
a type of hydrops fetalis where fluid accumulates in the soft tissues of the neck
what is a cystic hygroma
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
what is kernicterus
recessive disorder caused by a severe deficiency of the enzyme phenylalanine hydrolase leading to hyperphenylalaninemia
this impairs brain development and can lead to seizures
what is phenylketonuria (PKU)
recessive disorder of galactose metabolism resulting from accumulation of galactose-1-phosphate in liver, spleen, lens of eyes, etc.
what is galactosemia
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
what is cystic fibrosis (mucoviscidosis)
intestinal obstruction caused by thick meconium from cystic fibrosis
can lead to volvulus or perforation
what is meconium ileum
twisting in on itself
what is volvulus
postmortem diagnosis that identifies an infant, less than 1 yr old, who dies a sudden and unexpected natural death during sleep
what is sudden infant death syndrome (SIDS)
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
what is cephalohematoma
hemorrhage of eye due to birth trauma
what is a scleral subconjunctival hemorrhage
obstetric emergency where shoulders won’t come out during delivery
can lead to brachial plexus injuries, hypoxia, and more
what is shoulder dystocia
benign, pink-red spots that can be flat or raised
port-wine stain that can spontaneously regress
what is a hemangioma
tumors of sympathetic ganglia and adrenal medulla that are derived from primordial neural crest cells populating these sites
what is neuroblastoma
malignant, renal tumor associated with WAGR, denys-drash, and beckwith-wiedemann syndromes
what is a wilms tumor (nephroblastoma)
