Flashcards in Ch11: Pediatric Pathology Deck (169):
What is neonatal?
first 4 weeks of life
What is infancy?
first year of life
What are the five breakdowns of pediatrics?
3. Age 1-4
4. Age 5-14
5. Age 15-24
During which age group do most pediatric deaths occur?
Under 1 year of age.
What are congenital anomalies?
Morphologic defects that are present at birth
Does congenital mean genetic?
What percentage of newborns have a major anomaly?
What does major anomaly mean?
anomaly having either a cosmetic or functional significance
What is an anomaly?
Marked deviation from normal, especially as a result of congenital or hereditary defects
What is a malformation?
Primary errors of morphogenesis - intrinsically abnormal developmental process
Are malformations due to a single gene problem or multifactorial?
What is a disruption?
secondary destruction of an organ or body region that was previously normal in development
A disruption arises from what?
extrinsic disturbance in morphogenesis
What is a deformation?
extrinsic disturbance of development leading to a variety of structural abnormalities
What causes deformation?
Localized or generalized compression of the growing fetus by abnormal biomechanical forces
What is most common factor of deformations?
What is a sequence?
pattern or cascade of anomalies
Example of a sequence?
Oligohydramnios --> Potter sequence
Wide set eyes with epicanthal folds
Low set ears
Broad, flattened nose
What is a syndrome?
constellation of congenital anomalies, believed to be pathologically related
How do sequences and syndromes differ?
syndrome cannot be explained on the basis of a single localized initiating defect in organogenesis
What leads to a syndrome? (2)
1. Viral infections and 2. chromosomal abnormalities- can lead to a group of anomalies in multiple organs
What are genetic anomalies?
Anomalies that are genetic in origin
What are the three groups of genetic anomalies?
1. Karyotypic aberrations
2. Single gene mutations
3. Multifactorial inheritance (multiple genes + environment)
What happens to 80-90% of fetuses with aneuploidy or abnormality of chromosome number?
Spontaneous abortion (die in utero)
90% of single gene mutation anomalies are inherited in what pattern?
What are the rest?
1. Autosomal dominant
2. Autosomal recessive
X-linked or something else
What is the most common chromosomal disorder?
What is the most common form of inherited mental retardation?
Symptoms of trisomy 21? 6
Mental retardation, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, and congenital heart defects
What disease occurs more often in trisomy 21 patients as they age?
Acute lymphoblastic anemia (ALL)
What increases risk of trisomy 21?
Increasing age of mother
Trisomy 18/Edward's results in what symptoms? 7
Severe mental retardation
Rocker bottom feet
Low set ears
Congenital heart defects
Clenched hands with overlapping fingers
Trisomy 13/Patau's syndrome has what symptoms? (6)
Severe mental retardation
Cleft lip/cleft palate
Congenital heart defects
What causes Cri-du-chat syndrome?
Chromosome 5p deletion (short arm)
Results of cri-du-chat syndrome? (6)
Severe mental retardation
High pitched crying/mewing – source of the syndrome name
Broad nasal bridge
Congenital heart defects
What is Klinefelter's the result of?
XXY sex chromosomes
Klinefelter's symptoms? (5)
Female hair and fat distribution
What causes Turner syndrome?
Missing X chromosome in women
Results of turner syndrome? (5)
Webbing of neck/Cystic hygromas
Coarctation of aorta
Primary amenorrhea/Hypothyroidism/Insulin resistance
What does the quadscreen look for? 4
AFP/alpha-fetoprotein is produced by who?
hCG is what?
Hormone made in placenta
What is estriol?
Estrogen made by both fetus and placenta
What is inhibin A?
Protein made by placenta and ovaries
After getting the measurements of the four substances in the quad-screen what are they then combined with? (2)
When is quad screen performed?
16th and 18th week of pregnancy
Who should definitely get a quad screen? (6)
1. Family history of defects
2. Older than 35
3. Used drugs or harmful meds
4. Take insulin
5. Viral infection
6. High radiation levels
High levels of AFP suggest what?
Such as what? (2)
possibility of a neural tube defect
such as spina bifida or anencephaly
What is the most common reason for elevated AFP levels?
inaccurate dating of the pregnancy
Abnormal hCG and estriol
Chromsomal abnormality such as trisomy
Is the quad screen diagnostic?
What are some environmental causes of injury to fetus? 3
What are the main infections that can cause fetus problem?
Cytomegalovirus (CMV, the most common)
Herpes simplex virus (HSV)
Congenital toxoplasmosis can cause what? 5
2. GI problems: diarrhea, vomiting
3. Retinitis, seizures, neurologic problems
4. Hearing loss
5. Low birth weight, jaundice, petechial rash
Congenital rubella can result in what?
1. Cardiac defect: Patent ductus
2. Cerebral defect
3. Eye defect (cataracts and blindness)
5. Prematurity, low birth rate, anemia, hepatitis, thrombocytopenia
Congenital CMV can result in what?
1. Prematurity, low birth rate, anemia, hepatitis, thrombocytopenia
2. Microcephaly and seizures
3. Hearing and vision
4. Mental retardation
Congenital herpes simplex infection likes what in the brain?
What are the three forms of congenital herpes simplex infection?
3. CNS form
Symptoms of localized form of congenital HSV?
Lesions of skin, eyes and mouth (birth canal exposure)
Symptoms of disseminated form of congenital HSV?
internal organs, particularly the liver
Symptoms of CNS form of congenital HSV?
Seizures, tremors irritability, lethargy --> encephalopathy
Congenital syphilis has skeletal and teeth changes such as what? 9
1. Blunted upper incisor teeth (Hutchinson's teeth)
2. mulberry molars
3. Frontal bossing (prominence of the brow ridge)
4. Hard palate defect
5. Saddle nose
6. Swollen knees
7. Saber shins
8. Short maxillae
9. Protruding mandible
Congenital syphilis other findings include? (8)
Hepatosplenomegaly with jaundice
Petechial and other rashes
Most bacterial and some viral such as HSV infections are acquired by what route?
Transcervical infections are acquired how? (2)
1. exposure to infected amniotic fluid before birth
2. by passing through an infected birth canal
Exposure to a transcervical infection is associated with what incident?
Premature Rupture of Membranes and ascending infection
Transplacental infections include what?
1. Parasitic: Toxoplasmosis and malaria
2. Bacterial: Listeria and syphilis
How are transplacental infections passed to fetus?
Other common infections in environmental induced injury? 5
Varicella zoster virus (VZV)
Human immunodeficiency virus (HIV)
How does toxoplasmosis appear in histo?
Encysted without surrounding inflammation
Rubella infection will result in what symptom?
Congenital cataracts bilaterally
CMV appears how in histo?
Large intra-nuclear inclusion
What is bacteremia?
presence of bacteria in the blood
What is sepsis?
“uncontrolled” systemic inflammatory response to infection (bloodstream, urinary tract, lungs, skin, etc.)
Mnifestations of sepsis include? 8
8. organ failure
What are the historic pediatric exanthems?
1. Measles (Rubeola, First disease)
2. Scarlet fever (Streptococcus pyogenes, Second disease)
3. Rubella (German measles, Third disease)
4. Duke’s disease (no specific cause identified - virus?)
5. Erythema infectiosum (Parvovirus B19, Fifth disease or “slapped check disease”)
6. Roseola (Human herpesviruses 6 & 7, Sixth disease)
How are perinatal infections grouped?
Time of onset:
Early onset: First 7 days of life
Late onset: 7 days to 3 months
Most common early onset infection?
Group B strep
What percentage of women are carreirs for GBS?
Late onset infections include? (2)
What is the most common teratogen?
What effects can ethanol have on the fetus? 5
1. Growth retardation
3. Atrial septal defect
4. Maxillary hypoplasia
5. Mental retardation and behavioral problems
Thalidomide can result in what problems?
1. Shortened limb
2. CV, GI, GU, special sensory defects
3. Suppress angiogenesis
How is thalidomide used clinically?
Anti-angiogenesis in oncology therapy
Phenytoin/Dilantin is a drug used for what? 2
Phenytoin/Dilantin can cause what? (4)
1. broadened nasal bridge,
2, cleft lip/palate
4. Mental retardation
What is a baby born with phenytoin/dilantin effects called?
Fetal hydantoin syndrome (FHS)
Folic acid antagonists include what?
Loss of folic acid activity leads to increases in what? (4)
Neural tube defects
Androgens whether endogenous or exogenous can have what effect on babies? 4
1. Low birth rate
2. Altered second to fourth fingers (males longer fourth, females longer first)
3. Masculinization of females
4. Aggressive behavior
Warfarin and coumadin can have what effects on babies? 4
Other skeletal abnormalities
13-cis-retinoic acid is known as what?
Isotretinoin or Accutane
Accutane has what problem despite its amazing results
What does a female who is on accutane have to do?
sign form to be on birth control pills prior to treatment
Problems with accutane on baby?
Abnormalities of the face, eyes, ears, skull, CNS, CV system, thymus and parathyroid glands
Mothers on ACE inhibitors will have babies with what?
Cocaine mothers have what problems? (4)
1. Premature delivery
2. Birth defects
4. Fetal/neonate addiction to crack
DES was used to prevent what?
Problems with DES on babies? 4
Vaginal adenosis and vaginal clear cell adenocarcinoma
Increased risk of breast cancer
GU defects in males
Effect of iodine on baby?
Congenital goiter or hypothyroidism
Can babies get a malformation due to mother being diabetic?
Matneral hyperglycemia induces what?
fetal hyperinsulinemia --> increased insulin and IGF release
Effects of hyperinsulinemia on fetus? 5
Increased body fat
Neural tube defects, and other CNS malformations
Hypertrophy of pancreatic islets
Hypertrophy of pancreatic islets puts infant as risk for what?
Can radiation be a teratogen?
What is fetal hydrops?
accumulation of widespread fetal edema during pregnancy
Two forms of getal hydrops?
immune and non-immune forms
What will severe fetal hydrops result in?
Intrauterine demise (hydrops fetalis)
What was the most common form of fetal hydrops?
Immune hydrops is secondary to what?
maternal IgG antibodies capable of transplacental distribution
When is immune hydrops most commonly seen?
What is RH disease?
What does it require?
Maternal IgG antibodies to the red blood cell antigen D
D negative mother and prior exposure to the D antigen
What does immune hydrops cause in the infant?
1. Anemia (HDN and erythoblastosis fetalis)
3. CHF (hypoproteinemia and anasarca)
Why has immune fetal hydrops become less common?
identification of D negative mothers, D positive infants and the use of RhoGAM (anti-D antibodies) is the standard of care
Infant is also treated with intrauterine transfusions of D-negative RBC's
Three major causes of non-immune hydrops?
Example of each
1. CV defects (CHF)
2. Chromosomal anomalies (Turner syndrome)
3. Non-immune fetal anemia (Hemoglobinopathies and Parovirus B19)
What is SIDS?
sudden death of an infant under age 1 which remains unexplained after thorough investigation
When is SIDS diagnosed?
After complete autopsy
What are usual causes of SIDS? 5
Infections - viral myocarditis and bronchopneumonia
Traumatic child abuse
How much has SIDS dropped recently?
90% of SIDS deaths occur when?
First 6 months of life
Parental risk factors for SIDS? 6
1. Mom 20 or less
2. Mom smokes
3. Drug abuse by either parent
4. Short intergestational period
5. Bad prenatal care
6. Low socioeconomic group
Infant risk factors for SIDS? 4
1. Brain stem problems
2. prematurity and low birth weight
3. Male sex and multiple births
4. SIDS in other siblings
Environmental risk factors for SIDS? 4
1. Prone or side sleeping position
2. Soft sleeping surfaces
4. Co-sleeping first three months of life
Typical autopsy findings of SIDS? (2)
petechia of the thymus, visceral
parietal pleura and epicardium
What type of inheritance is PKU?
PKU is a decrease in what enzyme?
Normally phenyalanine is converted into what?
Tyrosine becomes what in PKU patients?
Essential amino acid
Is buildup of phenylalanine metabolites toxic?
PKU is most common in what population?
What do high phenylalanine levels do to the baby?
impairs brain development and if not treated will develop severe MR by 6 months
Treatment of PKU is to do what?
Remove phenylalanine from diet
Are CNS effects seen in adults?
Pregnant women with high levels of phenylalanine can cause CNS damage in non-PKU infants
Galactosemia has what inheritance?
What accumulates in galactosemia?
galactose and galactose-1-phosphate
impairs amino acid transport in kidney resulting in aminoaciduria
Damage caused by toxic metabolites has what symptoms? (3)
1. Liver: hepatosplenomegaly, steatosis, fibrosis
2. Eyes: Cataracts
3. Mental retardation
Galactosemia babies have what problem? (2)
1. Failure to thrive
2. Increased E.coli sepsis
Treatment for galactosemia involves what?
Removing galactose and lactose from diet
Removal of galactose from the diet is required when?
first 2 years of life
Even removing galactose from diet, what can still happen to galactosemia patients? (2)
1. Speech disorder
2. Premature ovarian failure
Cystic fibrosis has what inheritance?
In terms of demographics, what is CF the most common disorder of?
Most common lethal genetic disorder in caucasians
CF is a disorder of what?
Which affects what? (2)
epithelial transport of chloride and other ions
1. fluid secretions in exocrine glands
2. epithelial lining of the respiratory, GI and reproductive tracts
Primary defect of CF is what?
abnormal function of an epithelial ion channel protein encoded by the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7q31.2
How many CF mutations are there?
What is the most severe CF mutation and accounts for 70% of them?
Since chloride ions can't be excreted in CF what happens?
sodium is excessively absorbed, and water passively follows, leading to abnormally thick mucus
Results of CF in infant?
1. Meconium ileus
2. Failure to thrive
Results of CF as infant grows order?
In terms of ducts and pancreas
Abnormally viscid mucus secretions then obstruct duct lumens --> chronic lung disease, pancreatic insufficiency with malnutrition, hepatic cirrhosis, intestinal obstruction and male infertility
Pancreatic exocrine insufficiency --> protein and fat malabsorption --> increased fecal fat loss (steatorrhea) and inability to absorb fat soluble vitamins --> deficiency of vitamins A, D, E, K
The sweat chloride test does what?
If elevated what does it mean?
measures the sodium chloride concentration of sweat
presumptive diagnosis of cystic fibrosis is made
Disease severity of CF depends on what?
1. Specific CF mutation
2. Other associated diseases
3. Environmental factors such as infection
What are causes of respiratory diestress in a newborn? 6
Excessive sedation of mother,
fetal head injury,
autosomal recessive polycystic renal disease, diaphragmatic hernia
Most common cause of respiratory distress in newborn?
Hyaline membrane disease/Respiratory distress syndrome
How is HMD/RDS diagnosed in X-ray?
Ground glass infiltrates
Incidence of RDS is inversely proportional to what? 2
1. Gestational age
2. Fetal lung maturity
RDS occurs most often in what?
infants born at less than 28 weeks
Fundamental defect of neonatal respiratory distress?
Deficiency of surfactant
What is surfactant's job?
Reduce surface tension in the lung
Surfactant is synthesized by what cells?
Type II pneumocytes
When is surfactant abundantly seen?
After 35 weeks
Assessment of Fetal Lung Maturity is necessary for what?
FLM is necessary for what age group?
Babies between 34 and 37 weeks gestation
Is FLM better at predicting immaturity or maturity?
What is used to treat RDS?
What is the most common method of FLM assays?
Fluorescence polarization assay
The lecithin/sphingomyelin ratio is used to determine what
Fetal lung maturity
Lecithin increases with what?
What does sphingomyelin increase with?
A 2:1 L/S ratio indicates what?
Fetal lung maturity
Many FLM assays are done using what fluid?