Ch11: Pediatric Pathology Flashcards
(169 cards)
1
Q
What is neonatal?
A
first 4 weeks of life
2
Q
What is infancy?
A
first year of life
3
Q
What are the five breakdowns of pediatrics?
A
- Neonatal
- Infancy
- Age 1-4
- Age 5-14
- Age 15-24
4
Q
During which age group do most pediatric deaths occur?
A
Under 1 year of age.
5
Q
What are congenital anomalies?
A
Morphologic defects that are present at birth
6
Q
Does congenital mean genetic?
A
No
7
Q
What percentage of newborns have a major anomaly?
A
3%
8
Q
What does major anomaly mean?
A
anomaly having either a cosmetic or functional significance
9
Q
What is an anomaly?
A
Marked deviation from normal, especially as a result of congenital or hereditary defects
10
Q
What is a malformation?
A
Primary errors of morphogenesis - intrinsically abnormal developmental process
11
Q
Are malformations due to a single gene problem or multifactorial?
A
Multifactorial usually
12
Q
What is a disruption?
A
secondary destruction of an organ or body region that was previously normal in development
13
Q
A disruption arises from what?
A
extrinsic disturbance in morphogenesis
14
Q
What is a deformation?
A
extrinsic disturbance of development leading to a variety of structural abnormalities
15
Q
What causes deformation?
A
Localized or generalized compression of the growing fetus by abnormal biomechanical forces
16
Q
What is most common factor of deformations?
A
uterine constraint
17
Q
What is a sequence?
A
pattern or cascade of anomalies
18
Q
Example of a sequence?
Symptoms? (5)
A
Oligohydramnios –> Potter sequence
Wide set eyes with epicanthal folds Low set ears Broad, flattened nose Receding chin Limb anomalies
19
Q
What is a syndrome?
A
constellation of congenital anomalies, believed to be pathologically related
20
Q
How do sequences and syndromes differ?
A
syndrome cannot be explained on the basis of a single localized initiating defect in organogenesis
21
Q
What leads to a syndrome? (2)
A
- Viral infections and 2. chromosomal abnormalities- can lead to a group of anomalies in multiple organs
22
Q
What are genetic anomalies?
A
Anomalies that are genetic in origin
23
Q
What are the three groups of genetic anomalies?
A
- Karyotypic aberrations
- Single gene mutations
- Multifactorial inheritance (multiple genes + environment)
24
Q
What happens to 80-90% of fetuses with aneuploidy or abnormality of chromosome number?
A
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
