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Workup for suspected neonatal HSV infection

-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


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

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


Toxoplasmosis may be characterized by

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


Congenital rubella can present with

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


CMV may exhibit

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


Congenital syphilis may have symptoms of

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


three presentations of neonatal HSV disease

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


symptoms and complications of disseminated HSV

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


what may blood tests show in HSV infection?

moderate peripheral leukocytosis, elevated serum transaminase levels, and thrombocytopenia


preferred treatment for any neonatal HSV infection

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


diagnosis of esophageal atresia +/- TE fistula

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


nonspecific findings suggestive of esophageal atresia

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


common associations with TEF

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


H-type tracheoesophageal fistula often presents when and how ?

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


Infants with TEF usually present when and how?

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


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

Slow absorption of fetal lung fluid with resultant tachypnea



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


respiratory distress syndrome (RDS)

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



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


RDS management

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.



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



absence of the lens


Many of the cases of isolated congenital cataracts are ?

hereditary in origin, with most being transmitted through autosomal dominance


infections that cause congenital cataracts

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


congenital cataracts may be secondary to metabolic diseases such as

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


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

hypoglycemia and hypocalcemia

diabetes or hypoparathyroidism


other conditions associated with cataracts

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


other forms of amblyopia

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


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

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


congenital rubella syndrome

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.


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 ?

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


treatment of congenital nasolacrimal duct obstruction (CNLDO)

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.


tearing, photophobia, and blepharospasm, corneal enlargement think ?

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



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


Fragile X Syndrome

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.


features of Turner's

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


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

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


failure to thrive (FTT) is suspected when

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.


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

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


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

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


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

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


Effects of Vitamin and Mineral Deficiency or Excess



galactosemia is a deficiency of ? and presents with ?

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


biliary atresia can lead to what deficiency ?

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


diagnostic tests for rickets

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


biliary atresia

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.


kasai procedure

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



Thinning of the bones of the skull


presentations of calcipenic rickets

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.


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

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


symptoms of severe hypocalcemia

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


symptoms of rickets

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


changes of rickets are best visualized where?
what do you see?

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



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.



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



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.


air entry

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.


bronchial breath sounds

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


imaging for foreign body aspiration

PA and lateral chest films
Bilateral decubitus or inspiratory/expiratory chest films