2

Question 1

Workup for suspected neonatal HSV infection

Answer 1

• HSV surface cultures obtained from the conjunctiva, nasopharynx, mouth, rectum, and from any vesicular lesion
• CSF and blood are tested by PCR for HSV DNA

Question 2

HSV is typically acquired intrapartum, but if infected in utero, infant may be born with ?

Answer 2

skin vesicles (or their scars), chorioretinitis, and microcephaly

Question 3

Toxoplasmosis may be characterized by

Answer 3

chorioretinitis, seizure, CSF pleocytosis, and thrombocytopenia, CT scan will show diffuse intracranial calcifications with a predilection for the basal ganglia and obstructive hydrocephalus

Question 4

Congenital rubella can present with

Answer 4

meningoencephalitis, microcephaly, seizure, and thrombocytopenia, would be characterized by cataracts and a purpuric rash (blue-gray nodules known as “blueberry muffin rash”)

Question 5

CMV may exhibit

Answer 5

meningoencephalitis, chorioretinitis, microcephaly, seizure, pneumonitis, transaminitis, and thrombocytopenia, CT demonstrates periventricular calcifications and the blueberry muffin rash

Question 6

Congenital syphilis may have symptoms of

Answer 6

chorioretinitis, aseptic meningitis, pneumonitis, transaminitis, thrombocytopenia, and fever; the rash is characteristically maculopapular.

Question 7

three presentations of neonatal HSV disease

Answer 7

(1) localized skin, eye, and mouth (SEM) involvement (1-2 wks)
(2) CNS disease (2-3 wks)
(3) disseminated disease (1-2 wks)

Question 8

symptoms and complications of disseminated HSV

Answer 8

fever, lethargy, irritability, apnea, a bulging fontanelle, or seizures (focal or generalized). Skin vesicles in 2/3
Hepatitis, pneumonitis, shock, and DIC

Question 9

what may blood tests show in HSV infection?

Answer 9

moderate peripheral leukocytosis, elevated serum transaminase levels, and thrombocytopenia

Question 10

preferred treatment for any neonatal HSV infection

Answer 10

IV acyclovir: 14 days in SEM disease but a minimum of 21 days with CNS or disseminated disease, eye drops if necessary
-About 50% of neonates with HSV infection will have skin recurrences over the subsequent 6 months and require daily suppressive acyclovir

Question 11

diagnosis of esophageal atresia +/- TE fistula

Answer 11

CXR or abd XR will most commonly show the orogastric tube coiled in the esophageal blind pouch with or without air in the stomach

Question 12

nonspecific findings suggestive of esophageal atresia

Answer 12

polyhydramnios, absence of a fluid-filled stomach, and a distended esophageal pouch a

Question 13

common associations with TEF

Answer 13

VACTERL or VATER association (vertebral abnormality, anal imperforation, cardiac, tracheoesophageal fistula, radial, renal and limb anomalies)
CHARGE (coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) association, DiGeorge syndrome, and trisomy 18, 21, and 13

Question 14

H-type tracheoesophageal fistula often presents when and how ?

Answer 14

later in infancy as recurrent pneumonitis and can be difficult to diagnose.

Question 15

Infants with TEF usually present when and how?

Answer 15

in the newborn period with excessive oral secretions and coughing, choking, and cyanosis secondary to aspirated secretions or with initial feeds

Question 16

transient tachypnea of the newborn (TTN) thought to be caused by ? and associated with ?

Answer 16

Slow absorption of fetal lung fluid with resultant tachypnea

C-sections

Question 17

TTN on CXR

management?

Answer 17

perihilar streaking and fluid in the fissures; lungs are aerated.
Most infants with TTN have resolution of symptoms in 24 to 72 hours and are managed supportively

Question 18

respiratory distress syndrome (RDS)

Answer 18

usually in premature infants (<34 weeks of gestational age), deficient in surfactant

Question 19

RDS on CXR

Answer 19

reticulonodular “ground glass” pattern with air bronchograms and decreased aeration of the lungs

Question 20

RDS management

Answer 20

supplemental oxygen as needed to maintain O2 of 90% to 95% and intravenous fluids or nasogastric feeding to maintain hydration because the degree of tachypnea usually precludes oral feeding. Exogenous surfactant administered.

Question 21

amblyopia

Answer 21

Decrease or loss of vision caused by underuse of one eye (deprivation amblyopia) or lack of clear image projecting onto the retina (strabismic amblyopia

Question 22

aphakia

Answer 22

absence of the lens

Question 23

Many of the cases of isolated congenital cataracts are ?

Answer 23

hereditary in origin, with most being transmitted through autosomal dominance

Question 24

infections that cause congenital cataracts

Answer 24

toxoplasmosis, cytomegalovirus, syphilis, rubella, and herpes simplex virus

Question 25

congenital cataracts may be secondary to metabolic diseases such as

Answer 25

galactosemia, homocysteinemia, galactokinase deficiency, abetalipoproteinemia, Fabry, Hurlers, Niemann-Pick, and Wilson syndromes

Question 26

The most common metabolic disorders causing congenital cataracts are ?; so evaluate infants closely who are born to moms with ?

Answer 26

hypoglycemia and hypocalcemia

diabetes or hypoparathyroidism

Question 27

other conditions associated with cataracts

Answer 27

retinopathy of prematurity, retinitis pigmentosa, uveitis, and retinal detachment
trisomies 13, 18, and 21; Turner syndrome; and various depletion and duplication syndromes.

Question 28

other forms of amblyopia

Answer 28

strabismic (poorly formed image due to deviated eye), ametropic (high refractive error in both eyes), and anisometropic (unequal vision between the eyes)

Question 29

Strengthening of the “weak” eye in order to stimulate appropriate visual development is accomplished by ?

Answer 29

covering the “good” eye (occlusion therapy) or using atropine eye drops in the “good” eye (penalization therapy) to blur vision in this eye

Question 30

congenital rubella syndrome

Answer 30

LBW, PDA, and congenital cataracts, purpura, hepatosplenomegaly, jaundice, retinopathy, glaucoma, pulmonary artery stenosis, meningoencephalitis, thrombocytopenia, and hemolytic anemia
long-term sequelae: sensorineural hearing loss, neurodevelopmental abnormalities, growth retardation, endocrine disease (DM, thyroid dysfunction), and hypogammaglobulinemia.

Question 31

an infant presents with excessive tear production that later becomes a mucopurulent discharge but has an otherwise normal ophtho exam (conjunctiva is not inflamed and the cornea is not involved) think ?

Answer 31

congenital nasolacrimal duct obstruction (CNLDO) or dacryostenosis
(failure of canalization of the cells that form the nasolacrimal duct)
at risk for dacryocystitis or rarely periorbital cellulitis

Question 32

treatment of congenital nasolacrimal duct obstruction (CNLDO)

Answer 32

topical antibiotic therapy and nasolacrimal duct massage two to three times daily with warm water eyelid cleansing. Most cases of CLDNO resolve spontaneously, usually before 1 year of age.

Question 33

tearing, photophobia, and blepharospasm, corneal enlargement think ?

Answer 33

infantile glaucoma (increased IOP)
-emergent, requires immediate referral to ped optho

Question 34

strabismus

Answer 34

Misalignment of the visual axes. Strabismus can result in the loss of vision (amblyopia).

Question 35

Fragile X Syndrome

Answer 35

an X-linked disease caused by the inheritance of an abnormal number of CGG repeats in the FMR1 gene.
Physical features:
•long face with a large mandible
•large, prominent ears
•large testicles (after puberty)
With the exception of Down syndrome, Fragile X syndrome is the most common genetic cause of intellectual disability. It IS the most common FAMILIAL cause, as Down’s is typically a non-inherited genetic translocation.

Question 36

features of Turner’s

Answer 36

karyotype: 46,XO
webbed neck, widely-spaced nipples, and shield-like chest
renal abnormalities, lymphedema (causing edema of hands and feet), low-set ears, congenital heart defects, dental abnormalities—such as narrow or high-arched palates—and cystic hygromas

Question 37

patients with poor caloric intake usually fail to gain weight, but maintain ?

Answer 37

length and head circumference. As nutrition remains poor, length becomes affected next, and then ultimately head circumference.

Question 38

failure to thrive (FTT) is suspected when

Answer 38

suspected when a child’s growth is below the third or fifth percentile, in a child younger than 6 months who does not gain weight for 2 to 3 months, or in a child whose growth crosses more than two major growth percentiles in a short time frame; usually seen in children younger than 5 years whose physical growth is significantly less than that of their peers.

Question 39

Healthy infants in the first year of life require approximately ? kcal/kg/d of nutrition and about ? kcal/kg/d thereafter; FTT children require an additional ?% to ensure adequate catch-up growth

Answer 39

120 kcal/kg/d
100 kcal/kg/d
50% to 100%

Question 40

6-month-old child 6 exclusively fed on goat’s milk may lead to what problems?

Answer 40

Megaloblastic anemia from folate or B12 deficiency
Brucellosis if milk is unpasteurized
-low in vitamin D, iron, folate, and vitamin B12
-infants should receive folate, vitamin B12, and iron supplementation

Question 41

Breast-feeding vegan mothers should receive ?supplementation to prevent infant development of ?

Answer 41

vitamin B12 
methylmalonic academia (an amino acid metabolism disorder involving a defect in the conversion of methylmalonyl-coenzyme A ([CoA)] to succinyl-CoA), which presents with failure to thrive, seizure, encephalopathy, stroke, or other neurologic manifestations

Question 42

Effects of Vitamin and Mineral Deficiency or Excess

Answer 42

http://casefiles.mhmedical.com.mwu.idm.oclc.org/ViewLarge.aspx?figid=105345571&gbosContainerID=75&gbosid=219785

Question 43

galactosemia is a deficiency of ? and presents with ?

Answer 43

uridyl transferase deficiency
jaundice, hepatosplenomegaly, vomiting, hypoglycemia, seizures, lethargy, irritability, poor feeding and failure to thrive, aminoaciduria, liver failure, mental retardation, and an increased risk of Escherichia coli sepsis

Question 44

biliary atresia can lead to what deficiency ?

Answer 44

Malabsorption of vitamin D (among other fat-soluble vitamins) due to lack of intestinal secretion of bile salts, resulting in rickets

Question 45

diagnostic tests for rickets

Answer 45

Serum 25(OH)D, calcium, phosphorus, and alkaline phosphatase levels. Radiographs demonstrate poor bone mineralization

Question 46

biliary atresia

Answer 46

A congenital condition affecting approximately 1 in 16,000 live births in which the liver’s bile ducts become blocked and fibrotic, resulting in reduced bile flow into the bowel.

Question 47

kasai procedure

Answer 47

An operative procedure in which a bowel loop forms a duct to allow bile to drain from a liver with biliary atresia.

Question 48

craniotabes

Answer 48

Thinning of the bones of the skull

Question 49

presentations of calcipenic rickets

Answer 49

Stage 1 presents with hypocalcemia. Stage 2 presents with normal calcium but low phosphorus and increased alkaline phosphatase because of increased (PTH) secretion. Stage 3 presents with low calcium because PTH compensation reaches its limit.

Question 50

Populations at risk for vitamin D deficiency include children who are ?

Answer 50

exclusively breast-fed, born to vitamin D–deficient mothers, are dark skinned, are born prematurely, have limited sun exposure (especially during winter season), partake of vegetarian or vegan diets, use of anticonvulsant or antiretroviral medications, are obese, have conditions associated with malabsorption (celiac disease, inflammatory bowel disease [IBD], cystic fibrosis, gut resection), and have liver or kidney disease

Question 51

symptoms of severe hypocalcemia

Answer 51

seizures, tetany (neuromuscular excitability leading to muscle contractions), poor feeding, vomiting, apneic spells, stridor, wheezing, hypotonia, lethargy, hyperreflexia, and arrhythmias.

Question 52

symptoms of rickets

Answer 52

bone pain, motor delays, muscle weakness, failure to thrive, delayed closure of fontanelles, craniotabes, frontal bossing, dental abnormalities, widening of wrists and ankles, genu valgum, genu varus, and the “rachitic rosary.”
Infants can also demonstrate increased respiratory distress (due to softening of the ribs) and increased susceptibility to respiratory infections.
Deformities of the forearms are more common in infants, whereas angular bowing of the legs is more common in toddlers

Question 53

changes of rickets are best visualized where?

what do you see?

Answer 53

at the growth plate of rapidly growing bones; distal ulna and the metaphyses of the knees
widened distal ends of long bones with cupping and fraying, osteopenia, and deformities of the long bone shafts.
In severe rickets, pathological fractures and Looser zones (pseudofractures, fissures, or radiolucent lines) can be present

Question 54

wheezing

Answer 54

airway narrowing below the thoracic inlet.
With mild airway obstruction, wheezing is usually heard only in expiration. With increasing obstruction, wheezing may become biphasic and may even disappear altogether when obstruction is severe.
Although typically diffuse, focal wheeze may be heard in some settings such as mucus plugging.
Wheezing can also be characterized as polyphonic or monophonic: Polyphonic wheeze is characterized by multiple pitches and is typical of asthma; monophonic wheeze is characterized by only a single pitch and is typical of focal airway obstruction.

Question 55

rhonchi

Answer 55

Coarse, low-pitched rattling sounds heard best in expiration.
Thought to be due to secretions and narrowing of airways.

Question 56

crackles

Answer 56

Finer breath sounds heard on inspiration.
Associated with either fluid in the alveoli or with opening and closing of stiff alveoli (as in interstitial disease).
Sometimes described as either coarse or fine. (Coarse crackles are usually thought to be associated with purulent secretions in the alveoli as with pneumonia; fine crackles are often associated with pulmonary edema or interstitial lung disease.

Question 57

air entry

Answer 57

The amount of air entry should be noted during every lung exam.
Decreased air entry can be a sign of consolidation, atelectasis, pneumothorax, pleural effusion or airway obstruction.

Question 58

bronchial breath sounds

Answer 58

Lower in pitch and more hollow-sounding than normal breath sounds.
Caused by air moving through areas of consolidated lung.

Question 59

imaging for foreign body aspiration

Answer 59

PA and lateral chest films

Bilateral decubitus or inspiratory/expiratory chest films