Ch11: Pediatric Pathology Flashcards Preview

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Flashcards in Ch11: Pediatric Pathology Deck (169):
1

What is neonatal?

first 4 weeks of life

2

What is infancy?

first year of life

3

What are the five breakdowns of pediatrics?

1. Neonatal
2. Infancy
3. Age 1-4
4. Age 5-14
5. Age 15-24

4

During which age group do most pediatric deaths occur?

Under 1 year of age.

5

What are congenital anomalies?

Morphologic defects that are present at birth

6

Does congenital mean genetic?

No

7

What percentage of newborns have a major anomaly?

3%

8

What does major anomaly mean?

anomaly having either a cosmetic or functional significance

9

What is an anomaly?

Marked deviation from normal, especially as a result of congenital or hereditary defects

10

What is a malformation?

Primary errors of morphogenesis - intrinsically abnormal developmental process

11

Are malformations due to a single gene problem or multifactorial?

Multifactorial usually

12

What is a disruption?

secondary destruction of an organ or body region that was previously normal in development

13

A disruption arises from what?

extrinsic disturbance in morphogenesis

14

What is a deformation?

extrinsic disturbance of development leading to a variety of structural abnormalities

15

What causes deformation?

Localized or generalized compression of the growing fetus by abnormal biomechanical forces

16

What is most common factor of deformations?

uterine constraint

17

What is a sequence?

pattern or cascade of anomalies

18

Example of a sequence?
Symptoms? (5)

Oligohydramnios --> Potter sequence

Wide set eyes with epicanthal folds
Low set ears
Broad, flattened nose
Receding chin
Limb anomalies

19

What is a syndrome?

constellation of congenital anomalies, believed to be pathologically related

20

How do sequences and syndromes differ?

syndrome cannot be explained on the basis of a single localized initiating defect in organogenesis

21

What leads to a syndrome? (2)

1. Viral infections and 2. chromosomal abnormalities- can lead to a group of anomalies in multiple organs

22

What are genetic anomalies?

Anomalies that are genetic in origin

23

What are the three groups of genetic anomalies?

1. Karyotypic aberrations
2. Single gene mutations
3. Multifactorial inheritance (multiple genes + environment)

24

What happens to 80-90% of fetuses with aneuploidy or abnormality of chromosome number?

Spontaneous abortion (die in utero)

25

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

26

What is the most common chromosomal disorder?

Trisomy 21

27

What is the most common form of inherited mental retardation?

Trisomy 21

28

Symptoms of trisomy 21? 6

Mental retardation, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, and congenital heart defects

29

What disease occurs more often in trisomy 21 patients as they age?

Alzheimers
Acute lymphoblastic anemia (ALL)

30

What increases risk of trisomy 21?

Increasing age of mother

31

Trisomy 18/Edward's results in what symptoms? 7

Severe mental retardation
Rocker bottom feet
Low set ears
Micrognathia
Congenital heart defects
Renal abnormalities
Clenched hands with overlapping fingers

32

Trisomy 13/Patau's syndrome has what symptoms? (6)

Severe mental retardation
Microcephaly
Cleft lip/cleft palate
Polydactyly
Congenital heart defects
Renal abnormalities

33

What causes Cri-du-chat syndrome?

Chromosome 5p deletion (short arm)

34

Results of cri-du-chat syndrome? (6)

Severe mental retardation
High pitched crying/mewing – source of the syndrome name
Epicanthal folds
Broad nasal bridge
Malformed ears
Congenital heart defects

35

What is Klinefelter's the result of?

XXY sex chromosomes

36

Klinefelter's symptoms? (5)

Testicular atrophy
Tall stature
Long extremities
Gynecomastia
Female hair and fat distribution

37

What causes Turner syndrome?

Missing X chromosome in women

38

Results of turner syndrome? (5)

Short stature
Ovarian dysgenesis
Webbing of neck/Cystic hygromas
Coarctation of aorta
Primary amenorrhea/Hypothyroidism/Insulin resistance

39

What does the quadscreen look for? 4

AFP
hCG
Estriol
Inhibin A

40

AFP/alpha-fetoprotein is produced by who?

Fetus

41

hCG is what?

Hormone made in placenta

42

What is estriol?

Estrogen made by both fetus and placenta

43

What is inhibin A?

Protein made by placenta and ovaries

44

After getting the measurements of the four substances in the quad-screen what are they then combined with? (2)

1. Age
2. Ethnicity

45

When is quad screen performed?

16th and 18th week of pregnancy

46

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

47

High levels of AFP suggest what?
Such as what? (2)

possibility of a neural tube defect

such as spina bifida or anencephaly

48

What is the most common reason for elevated AFP levels?

inaccurate dating of the pregnancy

49

Low AFP
Abnormal hCG and estriol
Suggest what?

Chromsomal abnormality such as trisomy

50

Is the quad screen diagnostic?

NO

51

What are some environmental causes of injury to fetus? 3

1. infections
2. drugs
3. irradiation

52

What are the main infections that can cause fetus problem?

Toxoplasmosis
Other infections
Rubella
Cytomegalovirus (CMV, the most common)
Herpes simplex virus (HSV)
Syphilis

53

Congenital toxoplasmosis can cause what? 5

1. Hepatosplenomegaly
2. GI problems: diarrhea, vomiting
3. Retinitis, seizures, neurologic problems
4. Hearing loss
5. Low birth weight, jaundice, petechial rash

54

Congenital rubella can result in what?

1. Cardiac defect: Patent ductus
2. Cerebral defect
3. Eye defect (cataracts and blindness)
4. Deaf
5. Prematurity, low birth rate, anemia, hepatitis, thrombocytopenia

55

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

56

Congenital herpes simplex infection likes what in the brain?

Temporal lobe

57

What are the three forms of congenital herpes simplex infection?

1. Localized
2. Disseminated
3. CNS form

58

Symptoms of localized form of congenital HSV?

Lesions of skin, eyes and mouth (birth canal exposure)

59

Symptoms of disseminated form of congenital HSV?

internal organs, particularly the liver

60

Symptoms of CNS form of congenital HSV?

Seizures, tremors irritability, lethargy --> encephalopathy

61

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

62

Congenital syphilis other findings include? (8)

Pneumonia
Interstitial keratitis
Deafness
Hepatosplenomegaly with jaundice
Petechial and other rashes
Rhinitis
Lymphadenopathy
Rhagades

63

Most bacterial and some viral such as HSV infections are acquired by what route?

Cervicovaginal route

64

Transcervical infections are acquired how? (2)

1. exposure to infected amniotic fluid before birth
2. by passing through an infected birth canal

65

Exposure to a transcervical infection is associated with what incident?

Premature Rupture of Membranes and ascending infection

66

Transplacental infections include what?

1. Parasitic: Toxoplasmosis and malaria
2. Bacterial: Listeria and syphilis

67

How are transplacental infections passed to fetus?

Chorionic villi

68

Other common infections in environmental induced injury? 5

Varicella zoster virus (VZV)
Human immunodeficiency virus (HIV)
Mumps
Influenza
Enteroviruses

69

How does toxoplasmosis appear in histo?

Encysted without surrounding inflammation

70

Rubella infection will result in what symptom?

Congenital cataracts bilaterally

71

CMV appears how in histo?

Large intra-nuclear inclusion

72

What is bacteremia?

presence of bacteria in the blood

73

What is sepsis?

“uncontrolled” systemic inflammatory response to infection (bloodstream, urinary tract, lungs, skin, etc.)

74

Mnifestations of sepsis include? 8

1. fever,
2. leukocytosis,
3. hypotension,
4. hypothermia,
5. tachycardia,
6. thrombocytopenia,
7. leukopenia,
8. organ failure

75

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)

76

How are perinatal infections grouped?

Time of onset:
Early onset: First 7 days of life
Late onset: 7 days to 3 months

77

Most common early onset infection?

Group B strep

78

What percentage of women are carreirs for GBS?

10-30

79

Late onset infections include? (2)

1. Listeria
2. Candida

80

What is the most common teratogen?

Ethanol

81

What effects can ethanol have on the fetus? 5

1. Growth retardation
2. Microcephaly
3. Atrial septal defect
4. Maxillary hypoplasia
5. Mental retardation and behavioral problems

82

Thalidomide can result in what problems?

1. Shortened limb
2. CV, GI, GU, special sensory defects
3. Suppress angiogenesis

83

How is thalidomide used clinically?

Anti-angiogenesis in oncology therapy

84

Phenytoin/Dilantin is a drug used for what? 2

1. Anti-epileptic
2. Anti-arrhythmic

85

Phenytoin/Dilantin can cause what? (4)

1. broadened nasal bridge,
2, cleft lip/palate
3. microcephaly
4. Mental retardation

86

What is a baby born with phenytoin/dilantin effects called?

Fetal hydantoin syndrome (FHS)

87

Folic acid antagonists include what?

Methotrexate

88

Loss of folic acid activity leads to increases in what? (4)

Neural tube defects
CV defects
GU defects
Cleft lip/palate

89

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

90

Warfarin and coumadin can have what effects on babies? 4

Hypoplastic nose
Stippled epiphyses
Other skeletal abnormalities
Ocular abnormalities

91

13-cis-retinoic acid is known as what?

Isotretinoin or Accutane

92

Accutane has what problem despite its amazing results

Terriblly teratogenic

93

What does a female who is on accutane have to do?

sign form to be on birth control pills prior to treatment

94

Problems with accutane on baby?

Abnormalities of the face, eyes, ears, skull, CNS, CV system, thymus and parathyroid glands

95

Mothers on ACE inhibitors will have babies with what?

Renal defects

96

Cocaine mothers have what problems? (4)

1. Premature delivery
2. Birth defects
3. ADD
4. Fetal/neonate addiction to crack

97

DES was used to prevent what?

Miscarriages

98

Problems with DES on babies? 4

Vaginal adenosis and vaginal clear cell adenocarcinoma
Uterine abnormalities
Increased risk of breast cancer
GU defects in males

99

Effect of iodine on baby?

Congenital goiter or hypothyroidism

100

Can babies get a malformation due to mother being diabetic?

Yes

101

Matneral hyperglycemia induces what?

fetal hyperinsulinemia --> increased insulin and IGF release

102

Effects of hyperinsulinemia on fetus? 5

Increased body fat
Organomegaly (macrosomia)
Cardiac anomalies
Neural tube defects, and other CNS malformations
Hypertrophy of pancreatic islets

103

Hypertrophy of pancreatic islets puts infant as risk for what?

post-natal hypoglycemia

104

Can radiation be a teratogen?

Yes

105

What is fetal hydrops?

accumulation of widespread fetal edema during pregnancy

106

Two forms of getal hydrops?

immune and non-immune forms

107

What will severe fetal hydrops result in?

Intrauterine demise (hydrops fetalis)

108

What was the most common form of fetal hydrops?

Immune

109

Immune hydrops is secondary to what?

maternal IgG antibodies capable of transplacental distribution

110

When is immune hydrops most commonly seen?

Rh disease

111

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

112

What does immune hydrops cause in the infant?

1. Anemia (HDN and erythoblastosis fetalis)
2. Jaundice
3. CHF (hypoproteinemia and anasarca)

113

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

114

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)

115

What is SIDS?

sudden death of an infant under age 1 which remains unexplained after thorough investigation

116

When is SIDS diagnosed?

After complete autopsy

117

What are usual causes of SIDS? 5

Infections - viral myocarditis and bronchopneumonia
CV abnormalities
Traumatic child abuse
Suffocation
Genetic disorders

118

How much has SIDS dropped recently?

50%

119

90% of SIDS deaths occur when?

First 6 months of life

120

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

121

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

122

Environmental risk factors for SIDS? 4

1. Prone or side sleeping position
2. Soft sleeping surfaces
3. Hyperthermia
4. Co-sleeping first three months of life

123

Typical autopsy findings of SIDS? (2)

petechia of the thymus, visceral
parietal pleura and epicardium

124

What type of inheritance is PKU?

Autosomal recessive

125

PKU is a decrease in what enzyme?

Phenylalanine hydroxylase

126

Normally phenyalanine is converted into what?

Tyrosine

127

Tyrosine becomes what in PKU patients?

Essential amino acid

128

Is buildup of phenylalanine metabolites toxic?

Yes

129

PKU is most common in what population?

Scandinavian descent

130

What do high phenylalanine levels do to the baby?

impairs brain development and if not treated will develop severe MR by 6 months

131

Treatment of PKU is to do what?

Remove phenylalanine from diet

132

Are CNS effects seen in adults?
Exception

No
Pregnant women with high levels of phenylalanine can cause CNS damage in non-PKU infants

133

Galactosemia has what inheritance?

Autosomal recessive

134

What accumulates in galactosemia?
Result?

galactose and galactose-1-phosphate

impairs amino acid transport in kidney resulting in aminoaciduria

135

Damage caused by toxic metabolites has what symptoms? (3)

1. Liver: hepatosplenomegaly, steatosis, fibrosis
2. Eyes: Cataracts
3. Mental retardation

136

Galactosemia babies have what problem? (2)

1. Failure to thrive
2. Increased E.coli sepsis

137

Treatment for galactosemia involves what?

Removing galactose and lactose from diet

138

Removal of galactose from the diet is required when?

first 2 years of life

139

Even removing galactose from diet, what can still happen to galactosemia patients? (2)

1. Speech disorder
2. Premature ovarian failure

140

Cystic fibrosis has what inheritance?

Autosomal recessive

141

In terms of demographics, what is CF the most common disorder of?

Most common lethal genetic disorder in caucasians

142

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

143

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

144

How many CF mutations are there?

1300

145

What is the most severe CF mutation and accounts for 70% of them?

DeltaF508

146

Since chloride ions can't be excreted in CF what happens?

sodium is excessively absorbed, and water passively follows, leading to abnormally thick mucus

147

Results of CF in infant?

1. Meconium ileus
2. Failure to thrive

148

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

149

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

150

Disease severity of CF depends on what?

1. Specific CF mutation
2. Other associated diseases
3. Environmental factors such as infection

151

What are causes of respiratory diestress in a newborn? 6

Excessive sedation of mother,
fetal head injury,
fetal aspiration,
intrauterine hypoxia,
autosomal recessive polycystic renal disease, diaphragmatic hernia

152

Most common cause of respiratory distress in newborn?

Hyaline membrane disease/Respiratory distress syndrome

153

How is HMD/RDS diagnosed in X-ray?

Ground glass infiltrates

154

Incidence of RDS is inversely proportional to what? 2

1. Gestational age
2. Fetal lung maturity

155

RDS occurs most often in what?

infants born at less than 28 weeks

156

Fundamental defect of neonatal respiratory distress?

Deficiency of surfactant

157

What is surfactant's job?

Reduce surface tension in the lung

158

Surfactant is synthesized by what cells?

Type II pneumocytes

159

When is surfactant abundantly seen?

After 35 weeks

160

Assessment of Fetal Lung Maturity is necessary for what?

Avoiding RDS

161

FLM is necessary for what age group?

Babies between 34 and 37 weeks gestation

162

Is FLM better at predicting immaturity or maturity?

Maturity

163

What is used to treat RDS?

Surfactant therapy

164

What is the most common method of FLM assays?

Fluorescence polarization assay

165

The lecithin/sphingomyelin ratio is used to determine what

Fetal lung maturity

166

Lecithin increases with what?
What does sphingomyelin increase with?

Gestation age
Constant

167

A 2:1 L/S ratio indicates what?

Fetal lung maturity

168

Many FLM assays are done using what fluid?

Amniotic fluid

169

Clinical presentation of necrotizing enterocolitis? 3

Bloody stools,
abdominal distention, and
circulatory collapse