Exam #3: Disease of Childhood & Infancy

Question 1

What is a congenital anomaly?

Answer 1

Morphologic defect that is present at birth

Question 2

What is the number one congenital malformation in the US?

Answer 2

Clubfoot

25.7/10,00

Question 3

What is the second leading congenital malformation malformation in the US?

Answer 3

PDA

16.7/10,000

Question 4

What is the third most common congenital malformation malformation in the US?

Answer 4

VSD

10.9/10,000

Question 5

What is the fourth most common congenital malformation?

Answer 5

Cleft lip w/ or without palate

9.1/10,000

Question 6

What is PDA?

Answer 6

“Patent Ductus Arteriosus”

• Connects fetal pulmonary artery to the proximal descending aorta.
• Fxn= allows most of the blood from the right ventricle to bypass the fetus’s fluid-filled non-functioning lungs
• Normally closes with birth, but sometimes it doesn’t–> “PDA”

Question 7

What is the initial direction of a VSD shunt?

Answer 7

Left to right

Question 8

What happens to reverse the direction of a VSD?

Answer 8

Pulmonary HTN develops from left to right shunting, which leads to RIGHT TO LEFT shunt

Question 9

What is a cleft lip?

Answer 9

A cleft is a fissure/ opening in the lip

Question 10

What is atresia? How does the presentation differ based on upper or lower GI?

Answer 10

Abnormal closure of the GI tract

• Upper= baby regurgitates at every feeding
• Lower= take a few days to develop symptoms

Question 11

Describe the burden of Down’s Syndrome in the US.

Answer 11

• Most common chromosomal disorder in the US
• Leading cause of mental retardation in the US
• 1/700

Question 12

What are Trisomy 21 patient’s at risk for?

Answer 12

• 10-20x increase in the risk of developing leukemia (acute megakaryoblastic leukemia is most common)
• Abnormal immune responses predisposing to serious infections

Question 13

What do nearly all patients with Down’s Syndrome over 40 y/o develop?

Answer 13

Alzheimer’s Disease or neurodegenerative changes characteristics of Alzheimer’s Disease

Question 14

What is the major risk factor for Down’s Syndrome? Why?

Answer 14

Maternal age

• > 40 is major increase
• 35-40 slighter increase

*****B/c there is a greater chance of having a meiotic nondisjunction in the ovum

Question 15

What is a Robersonian translocation? What is the frequency of this mutation causes Down Syndrome?

Answer 15

46, XX 14;21q, +21

4% of cases are caused by the Robertsonian Translocation

Question 16

What are the 10 physical characteristics specific to Down’s Syndrome patients?

Answer 16

1) Mental retardation
2) Epicanthic folds & falt facial profile
3) Simian crease
4) Congenital Heart Defects
5) Intestinal stenosis
6) Umbilical hernia
7) Hypotonia
8) Gap between first and second toe
9) Predisposition to leukemia
10) Oblique palpebral fissures i.e. upward slant of the eyes

Question 17

What is Cystic Fibrosis?

Answer 17

This is an AUTOSOMAL RECESSIVE disorder that causes a defect in the CFTR (Cl- channel), leading to high salt concentration in exocrine gland, and viscous luminal fluid of the respiratory, GI & reproductive tracts.

Question 18

What is the incidence of CF?

Answer 18

1/ 3,200

Question 19

What is the common initial presentation of CF?

Answer 19

Hypertonic sweat, Mom complains of “salty” taste to baby

Question 20

What is the genetic mutation that is the basis for CF?

Answer 20

• Mutation affecting CFTR on 7q 31.2

- Specifically, a deletion of 3 nucleotides coding for phenylalanine at amino acid 508

Question 21

What are the 7 clinical features of CF?

Answer 21

1) Recurrent pulmonary infection
2) Cor pulmonale
3) Chronic pancreatitis
4) Secondary biliary cirrhosis
5) Malabsorption
6) Obstruction of the Vas Deferenes–>sterility
7) Abnormal sweat electrolytes

**Note that newborns also present with abnormal sweat electrolytes

Question 22

What is the definition of a Neonate?

Answer 22

0-28 days

Question 23

What is the definition of an Infant?

Answer 23

29 days - 1 year

Question 24

What is the definition of Preterm?

Answer 24

Born at >38 weeks

Question 25

What is the definition of Term?

Answer 25

38-42 weeks *****Note that post-term is >42 weeks

Question 26

What is the definition of a Child?

Answer 26

1-17 years

Question 27

What is an APGAR score? What are the basic factors that determine calculation of an APGAR score? When is the APGAR score determined?

Answer 27

This is a newborn assessment that is scored 0-10, & is a measurement of physiologic conditions/ responsiveness correlated with chances of survival. The areas of assessment include: - Color - HR - Respiration - Reflex - Muscle Tone Typically done at 1 & 5 minutes

Question 28

What is the definition of fetal growth restriction?

Answer 28

Fetal weight below the 10th percentile for gestational age determined via ultrasound

Question 29

What are the fetal causes of Fetal Growth Restriction? How does fetal growth restriction present?

Answer 29

- Chromosomal disorders - Congenital malformations - Infections *****Note that there is an intrinsic reduction in fetal growth potential despite adequate blood supply--also, there is proportionate growth restriction i.e. all systems are symmetrically effected

Question 30

What are the placental causes of Fetal Growth Restriction?

Answer 30

- Placental anomalies - Infection - Confined mosaicism i.e. combined diploid & trisomy cells in placenta or fetus *****Note that these causes of FGR generally reduce blood flow to the fetus b/c of a problem with the placenta, resulting in asymmetric or disproportionate FGR, mostly with brain spread

Question 31

What are the maternal causes of Fetal Growth Restriction?

Answer 31

- Preeclampsia - Chronic HTN - Malnutrition - Renal Disease - Drugs - Smoking ****Note that these are all maternal factors that reduce placental blood flow & are by far the most common factors leading to FGR

Question 32

What are the two most likely outcomes for the baby of a smoking pregnant mother?

Answer 32

- Prematurity | - Fetal Growth Restriction

Question 33

What are seven complications of fetal growth restriction?

Answer 33

- Perinatal asphyxia - Meconium aspiration - Hypoglycemia - Polycythemia - Brain dysfunction - Hearing & visual impairment - Learning disability

Question 34

What are the potential injuries caused during the birthing process?

Answer 34

1) Caput succedaneum 2) Subgaleal hematoma 3) Skull fracture 4) Intracranial hemorrhage 5) Brachial plexus injury 6) Facial nerve injury 7) Fractures of the clavicle & humerus

Question 35

What is Caput Succedanem?

Answer 35

Scalp swelling caused by pressure of the presenting part of the scalp against the dilating cervix during delivery

Question 36

What are the different types of perinatal infections?

Answer 36

- Transplacental (hematogenous, mostly viral & parasitic) - Ascending (transcervical, mostly bacterial) - Combined

Question 37

What is the mneominc to remember the causes of transplacental infections?

Answer 37

``` T-Toxoplasmosis O-Other R- Rubella C- Cytomegalovirus H- Herpesvirus S- Syphilis ``` Other= Listeriosis, HIV, HBV, & Parvovirus B19

Question 38

What is congenital syphilis?

Answer 38

Transmission of Syphilis (Treponema pallidum) from mother to infant *****Note that the spirochete cannot cross the placental barrier until 5th month

Question 39

What are the characteristic features of congenital syphilis?

Answer 39

- Vesiculobullous rash - Mulberry molars - Hutchinson incisors - Saber Shin ****Note that at birth the infected infants skin & secretions are HIGHLY INFECTIOUS

Question 40

What is congenital rubella syndrome?

Answer 40

Transmission of rubella (German Measles) from infected mother to infant during the first trimester of pregnancy

Question 41

What are the characteristics of congenital rubella syndrome?

Answer 41

1) Low birth weight 2) Purpuric rash 3) Small head size 4) Heart defects 5) Visual problems

Question 42

Describe how the mutation in CFTR leads to the symptoms seen in CF.

Answer 42

Note, the function of the CFTR is DIFFERENT in the sweat duct & airway**** Sweat= CFTR directed such that Cl- goes inward form the epithelium--block= more NaCl on epithelium Airway= here Cl- is OUTWARD & Na+ is INWARD--No Cl- outward leads to MORE Na+ IN & H20 follows

Question 43

How does the lung of a CF patient appear microscopically?

Answer 43

Highly fibrotic

Question 44

At 5 minutes, what are the different APGAR scores associated with?

Answer 44

``` 0-1= 50% fatal 4= 20% fatal >7= 0% fatal ```

Question 45

What is the second most common cause of neonatal mortality in the US?

Answer 45

Prematurity In the US, 12% are premature

Question 46

What are the complications of prematurity?

Answer 46

- Hyaline membrane disease - Necrotizing enterocolitis - Sepsis - Intraventricular hemorrhage - Development delay

Question 47

What is the definition of fetal growth restriction?

Answer 47

Fetal weight below the 10th percentile for gestational age via US

Question 48

What are the two most frequent underlying causes of congenital birth defects in the US?

Answer 48

1) Unknown (40-60%) | 2) Multifactorial (20-25%)