Amy, a 4-day-old female, comes to clinic because "she is yellow." She was born at term to a 25-year-old woman (well of course…it wouldn't be a male). Maternal lab results are as follows: blood type A+, syphilis negative, rubella immune, group B streptococcus (GBS) negative. Amy has been breastfeeding every 3 to 5 hours. She has had one stool and three urine diapers a day. Her weight is 15% less than her birth weight. On your examination, you notice jaundice from the head to the thighs. Her total bilirubin level is 25.2 mg/dL. The conjugated (direct) fraction is 0.4 mg/dL. The unconjugated (indirect) bilirubin is 21.2 mg/dL.
Question 13.2.1 Which of the following statements is correct?
A) She has breastfeeding failure jaundice.
B) She has physiologic jaundice.
C) She has biliary atresia; you must consult pediatric gastroenterology.
D) There is an ABO incompatibility between the mother and child.
Answer 13.2.1 The correct answer is "A." Amy most likely has breastfeeding failure jaundice. This occurs within the first several days of birth before the mother's milk supply is adequate. This must be distinguished from breast milk jaundice, which usually occurs later without evidence of dehydration. One sign that Amy is not receiving adequate breast milk feedings—and that this is breastfeeding failure jaundice instead of breast milk jaundice—is the fact that she is 15% below birth weight, having fewer than 6 wet diapers per day and fewer than two to five stools a day. Remember that a well-hydrated infant of Amy's age should lose no more than 10% of birth weight. You should try to evaluate the mother's milk supply by asking about the mother's feeling of engorgement, feeling of breast emptying with feeding, seeing milk on the infant's lips and tongue immediately after feeding, and hearing the infants swallow with feedings. "B" is incorrect. Even though physiologic jaundice peaks at this age, the level of 25.2 mg/dL is higher than would be expected with physiologic jaundice (which should not be higher than 17 mg/dL in a term infant). "C" is incorrect because biliary atresia presents with conjugated hyperbilirubinemia (the liver can appropriately conjugate bilirubin, but there is obstruction to the outflow of the conjugated bilirubin—essentially an obstructive process). "D" is incorrect because ABO incompatibility is unlikely in a mother whose blood type is something other than O (who have both anti-A and anti-B antibodies). In addition, Rh incompatibility is impossible due to the mother being Rh+. However, minor antigen incompatibility remains a possibility.
Causes of an elevated direct (conjugated) bilirubin: infection (including congenital), metabolic abnormalities (cystic fibrosis, Rotor and Dubin Johnson, etc.), anatomic abnormalities (biliary atresia, etc.), and cholestasis (especially from CVN). Note that conjugated bilirubin does not cause kernicterus.
Causes of an elevated indirect (unconjugated) bilirubin: increased breakdown of RBCs (ABO/Rh incompatibility, cephalohematoma, thalassemias, etc.), prematurity, hypothyroidism.
Question 13.2.2 Which of the following is NOT a risk factor for severe neonatal hyperbilirubinemia?
A) Exclusive breastfeeding.
B) Gestational age ≥41 weeks.
C) Significant birth trauma.
D) Visible jaundice in first 24 hours of life.
Answer 13.2.2 The correct answer is "B." Postdates gestational age is not associated with jaundice. Rather, premature infants are at a greater risk of jaundice. "A" is true, and exclusively formula-fed infants are less likely to have severe hyperbilirubinemia (but this is not a reason to recommend bottle feeding). Cephalohematoma and large bruises result in increased bilirubin production from heme breakdown, so "C" is true. The earlier jaundice occurs, the higher the peak is likely to be, so "D" is also true. Other major risk factors for severe hyperbilirubinemia include a sibling who required phototherapy, East Asian race, and blood group incompatibility.
Infants with total serum bilirubin levels >5 mg/dL typically have visible jaundice. The jaundice usually starts at the head and progresses distally to the feet. It resolves in the opposite pattern with the distal extremities resolving first.
Jaundice present in the first 24 hours of life is pathologic and usually due to hemolytic disease such as ABO incompatibility.
Amy's CBC is unremarkable and blood type is A+.
Question 13.2.3 Which of the following is the most appropriate initial treatment for this patient (remember the conjugated [direct] fraction is 0.4 mg/dL. The unconjugated [indirect] bilirubin is 21.2 mg/dL)?
A) Admission for exchange transfusion.
B) Admission for IV fluids alone to improve hydration.
C) Admission for phototherapy.
D) Discharge to home with recommendations for formula feeding, light exposure, and follow-up bilirubin tomorrow.
Answer 13.2.3 The correct answer is "C." Amy should be treated with intensive phototherapy given her level of hyperbilirubinemia. "A" is incorrect because phototherapy should be employed first and an exchange transfusion would follow if phototherapy failed to lower the bilirubin level or signs of acute bilirubin encephalopathy developed. "B" is incorrect since phototherapy is the definitive treatment. Adjunctive therapy with intravenous fluids is considered if weight loss exceeds 12% of birth weight, which in this case it does. "D" is incorrect because a serum bilirubin level of 25 mg/dL or higher is a medical emergency and requires immediate hospital admission for phototherapy.
The American Academy of Pediatrics (AAP) has established threshold values for hyperbilirubinemia treatment with phototherapy and exchange transfusion. Decisions regarding treatment vary depending on the infant's risk, age (in hours after delivery), gestational age, and total bilirubin level. There are graphs, tables, and nomograms (such as the Bhutani curve) to assist with decision-making. Decision-making calculator is available at: http://bilitool.org/
You admit Amy for further management. You confirm Amy's current weight, which is indeed down 15% from birth weight. Children often lose about 10% of their weight after birth.
Question 13.2.4 Beyond what point in time is it considered problematic if the patient has not returned to his or her birth weight?
E) None of the above. Don't worry, be happy.
Answer 13.2.4 The correct answer is "D." Children should regain their birth weight by age 2 weeks. Anything beyond this is reason for concern.
Amy does well under your care (and the bili lights) and returns at age 2 months. Mom questions the need for immunizations during the well examination "since we never see these archaic diseases anymore—I mean, come on, I can't even find a chicken pox party." Plus, she's read information on the Internet and has concerns about immunization safety. And wasn't there a study about kids who suffered autism because of thimerosal in a vaccine? And another study that vaccines transformed children into space aliens? Unfortunately, Amy's mother's concerns are not unusual. Parents—and politicians—often harbor misconceptions about vaccinations.
Question 13.2.5 What is a common side effect that Amy might have after her immunizations at her 2-month visit?
D) Erythema at the site of immunization.
E) Symptomatic shedding of virus in her stool.
Answer 13.2.5 The correct answer is "D." Vaccine side effects, such as low-grade fevers (not to 104°F as in "A"), induration and redness at the site, and fussiness are common. However, they are self-limited. "B" and "C" are incorrect. Autism and diabetes have NOT been linked to vaccines in many large, well-designed studies. "E" is incorrect because the DTaP, HIB, and IPV vaccines are inactivated. Thus, the virus or bacteria is killed and purified for a specific component. The hepatitis B vaccine is constructed with genetic engineering in a yeast cell. Thus, one would not shed virus in the stool. The MMR, oral polio, oral rotavirus, and varicella vaccines are live attenuated vaccines. With these immunizations, the virus has been weakened but can still replicate and be shed in stool. In an immunocompetent host, this usually is not of clinical significance. Thus, "E" is incorrect. Also, oral polio vaccine is no longer used in the United States because the risk of disease from the vaccine is greater than the risk of disease from wild-type polio; IM polio vaccine only, please.
The article linking MMR vaccine to autism was withdrawn by the authors (and Lancet) years ago, and the lead author has lost his license to practice because of fraudulent data. He turned out to be a space alien bent on infecting the earth. Despite this there are continued misconstrued thoughts about vaccines.
HELPFUL (BUT CONFUSING) TIP:
Prior to administering vaccines, pretreating the child with acetaminophen can increase patient comfort. However, the acetaminophen seems to blunt the immune response leading to lower antibody titers. Whether this is clinically significant is unknown.
Amy's mother accepts your advice but still has concerns.
Question 13.2.6 What other factually correct information can you share with her about vaccines?
A) Giving a child multiple vaccines at the same time weakens her immune system.
B) The fever and rash side effects of the MMR are from the measles component and usually occur 1 week after the vaccine is given.
C) If Amy receives her MMR at a 9-month visit (before she travels to visit Aunt Tilley who lives in an area where measles has re-surfaced due to lack of vaccination), her MMR immunization would be considered complete after this dose and another one at 5 years old.
D) If Amy had an acute otitis media and fevers of 100.4°F, we should delay her immunizations until she is afebrile.
E) Immunizations are not important, since these diseases are rare in the United States.
Answer 13.2.6 The correct answer is "B." The measles component can cause a fever and rash 5 to 10 days after the immunization. This occurs in 5% to 15% of infants. Up to 25% of adult women may have arthralgias after receiving the vaccine. The MMR dosing schedule includes two doses of MMR. However, the first must be after 1 year of age. It may be given sooner if the child is at risk (such as with travel or with a measles outbreak) but must be repeated after the first birthday. Thus, "C" is incorrect. Minor illnesses should not prevent vaccination. True contraindications include anaphylactic reactions to a vaccine or vaccine constituent, moderate-to-severe febrile illness, and encephalopathy within 7 days of DTaP. Live virus vaccines are contraindicated in immunocompromised patients.
As a general rule, if a patient misses a vaccine, just start up where you left off. There is no need to increase the number of vaccines given. If you have questions, you may consult the CDC website on catch-up immunization recommendations (and can even create a personalized catch-up schedule!).
Amy continues her scheduled well child examinations. At one of those visits, she was babbling and crawling around the office. She poked her fingers at the outlets (which thankfully were covered) and used a pincer grasp to pick up a raisin off the floor (ew, gross!).
Question 13.2.7 These behaviors are appropriate for the development of a child at approximately age:
Answer 13.2.7 The correct answer is "B." Take a moment to review the developmental milestones in Table 13-1.
TABLE 13-1DEVELOPMENTAL MILESTONES ||Download (.pdf) TABLE 13-1 DEVELOPMENTAL MILESTONES
|Age ||Gross Motor ||Visual Motor ||Language ||Social |
|1 mo ||Raises head slightly from prone, makes crawling movements, lifts chin up ||Has tight grasp, follows to midline ||alert to sound (e.g., by blinking, moving, startling) ||Regards face |
|2 mo ||Holds head in midline, lifts chest off table ||No longer clenches fist tightly, follows object past midline ||Smiles after being stroked or talked to ||Recognizes parent |
|3 mo ||Supports on forearms in prone, holds head up steadily ||Holds hands open at rest, follows in circular fashion ||Coos (produces long vowel sounds in musical fashion) ||Reaches for familiar people or objects, anticipates feeding |
|4–5 mo ||Rolls front to back and back to front, sits well when propped, supports on wrists, and shifts weight ||Moves arms in unison to grasp, touches cube placed on table ||Orients to voice; 5 mo: orients to bell (localized laterally), says "ahgoo," razzes ||Enjoys looking around environment |
|6 mo ||Sits well unsupported, puts feet in mouth in supine position ||Reaches with either hand, transfers, uses raking grasp ||Babbles;7 mo: orients to bell (localizes indirectly); 8 mo: "dada/mama" indiscriminately ||Recognizes strangers |
|9 mo ||Creeps, crawls, cruises, pulls to stand, pivots when sitting ||Uses pincer grasp, probes with forefinger, holds bottle, finger-feeds ||Understands "no," waves bye-bye;10 mo: "dada/mama" discriminantly; 11 mo: one word other than "dada/mama" ||Starts to explore environment, plays pat-a-cake |
|12 mo ||Walks alone ||Throws objects, let's go of toys, hand release, uses mature pincer grasp ||Follows one-step command with gesture, uses 2 words other than "dada/mama"; 14 mo: uses 3 words ||Imitates actions, comes when called, cooperates with dressing |
|15 mo ||Creeps upstairs, walks backward ||Builds tower of 2 blocks in imitation of examiner, scribbles in imitation ||Follows one-step command without gesture, uses 4–6 words and immature jargon (runs several unintelligible words together) ||Indicates some simple needs by pointing, hugs parents |
|18 mo ||Runs, throws toy from standing without falling ||Turns 2 or 3 pages at a time, fills spoon and feeds self ||Knows 7–20 words, knows 1 body part, uses mature jargon (includes intelligible words in jargon) ||Copies parent in tasks (e.g., sweeping, dusting), plays in company of other children |
|21 mo ||Squats in play, goes up steps ||Builds tower of 5 blocks, drinks well from cup ||Points to 3 body parts, uses 2-word combinations, has 20 word vocabulary ||Asks to have food and to go to toilet |
|24 mo ||Walks up and down steps without help ||Turns pages one at a time, removes shoes, pants, etc., imitates behavior of others ||Uses 50 words, 2-word sentences, uses pronouns (I, you, me) inappropriately, points to 5 body parts, understands 2-step command ||Parallel play |
|30 mo ||Jumps with both feet off floor, throws ball overhand ||Unbuttons, holds pencil in adult fashion, differentiates horizontal and vertical line ||Uses pronouns (I, you, me) appropriately, understands concept of "one," repeats 2 digits forward ||Tells first and last names when asked, gets drink without help |
|3 yr ||Pedals tricycle, can alternate feet when going up steps ||Dresses and undresses partially, dries hands if reminded, draws a circle ||Uses 3-word sentences, plurals, and past tense. Knows all pronouns. Minimum of 250 words, understands concept of "two" ||Group play, shares toys, takes turns, plays well with others, knows full name, age, sex |
|4 yr ||Hops, skips, alternates feet going downstairs ||Buttons clothing fully, catches ball ||Knows colors, says song or poem from memory, asks questions ||Tells "tall tales," plays cooperatively with a group of children |
|5yr ||Skips, alternating feet, jumps over low obstacles ||Ties shoes, spreads with knife ||Prints first name, asks what a word means ||Plays competitive games, abides by rules, likes to help in household tasks |
Amy continues her scheduled well child examinations. However, at 14 months old, mom brings Amy for a sick visit because she turned blue. After taking a complete history and doing a complete physical examination, you appropriately diagnose breath-holding spells.
Question 13.2.8 Which of the following statements about breath-holding spells is true?
A) The incidence of breath-holding spells for children between 6 months old and 6 years old is 50%.
B) If a color change occurs, it occurs after loss of consciousness.
C) Seizure-like activity may occur with breath-holding spells.
D) A child typically takes 60 to 90 minutes to return to her baseline after a breath-holding spell.
E) The evaluation should include an echocardiogram (ECG) and electroencephalogram (EEG).
Answer 13.2.8 The correct answer is "C." A typical breath-holding spell begins with an inciting event (like Santa did not bring the right toy or mom refused to buy a Happy Meal). Breath-holding spells occur in up to 4% of children and 80% start before 18 months. The child begins to cry, holds his or her breath, turns blue, and (may) lose consciousness. After loss of consciousness, some rhythmic jerking of the extremities may occur. The loss of consciousness is brief and the child returns quickly to normal activity (no post-ictal state). The differential diagnosis includes cardiac arrhythmias, seizures, and apnea. If the history is classic for breath-holding spells, no further evaluation is necessary. The treatment is parental reassurance. Parents should be encouraged to ignore the episodes and not to give in to child's requests in attempt to avoid the spells. Iron supplementation may decrease the frequency of spells if anemia or iron deficiency is present.
This type of spell in a child under 1 year of age may be referred to in the literature as an "ALTE" (apparent life-threatening event). The new term for ALTE is BRUE (brief resolved unexplained event). The term BRUE is nonspecific and is defined by what the parents observe: apnea, cyanosis, decreased responsiveness, etc. There is no relationship between an BRUE and sudden infant death syndrome (SIDS). The most common causes of an BRUE include lower respiratory tract infections, GERD, and seizure. Additional causes include breath-holding spells, electrolyte abnormalities, cardiac dysrhythmias, metabolic diseases, and CNS problems. Always consider child abuse in your differential. Fifty percent of the time no cause is identified. A good history and physical examination are the most important evaluation tools. Diagnostic testing should be guided by history and physical examination findings. See Tieder JS, et al. Pediatrics, 2016 May, for new BRUE guidelines.
Question 13.2.9 Between 12 and 15 months of age, Amy should receive all of the following vaccines, as per Centers for Disease Control and Prevention (CDC) recommendations, EXCEPT:
Answer 13.2.9 The correct answer is "D." Vaccination schedules and recommendations seem to represent quickly moving targets, so a regular review is required to keep up to date. At 12 to 15 months, the CDC recommends initial MMR, varicella, and hepatitis A vaccinations for all U.S. children. Influenza recommendations are updated annually and have become progressively more inclusive over time. The CDC recommends that all children ages 6 months through 18 years receive the influenza vaccine annually during the appropriate season. If the child is receiving her first year of influenza vaccination and is between 6 months and 8 year of age, she should receive 2 doses about 1 month apart to help boost immunity. Following this, the child may receive one dose of influenza vaccination annually. Of note, rotavirus vaccine should not be administered to children older than 32 weeks, and the first dose should not be given after 15 weeks.
Of course, the vaccine schedule is updated periodically but does not usually change drastically from year to year. We have included the current vaccine schedule in Figure 13-1. For the most up to date version, go to the CDC website at http://www.cdc.gov/vaccines/schedules/hcp/child-adolescent.html. There is also an excellent CDC app for immunization for both the iPhone and Android platforms. It is easier to comprehend than the website.
FIGURE 13-1. Recommended immunization schedule for persons aged 0 through 18 years.
Amy's breath-holding spells resolve by the time she is 3 years old, and she continues to grow and develop normally. Amy's next issue comes when she is 5 years old and in your office for her pre-kindergarten physical.
Question 13.2.10 You notice a new murmur. Of the following, which suggests that this is a benign murmur?
A) Murmur is grade II/VI.
C) Murmur radiates to the apex.
E) Murmur is holosystolic.
Answer 13.2.10 The correct answer is "A." Not all murmurs need to be referred to a cardiologist. There are features that can help differentiate pathologic from benign murmurs. A murmur that is diastolic, grades III to VI, pansystolic, or associated with cardiac symptoms is likely pathologic and requires further investigation. A benign murmur typically is systolic, soft (grades I–II, occasionally III), nonradiating, and short. A "benign" murmur is not a diagnosis of exclusion. You should try to make a decision about which innocent murmur it is. See Table 13-2.
TABLE 13-2"BENIGN" CARDIAC MURMURS OF CHILDHOOD ||Download (.pdf) TABLE 13-2 "BENIGN" CARDIAC MURMURS OF CHILDHOOD
Still murmur: A grade I–III murmur heard best in left middle sternal border or between left lower sternal border and apex. It is a "musical," vibratory or buzzing systolic ejection murmur, which is louder when the patient is supine, compared with when upright, and decreases in volume with a Valsalva maneuver. A Still murmur may get louder as blood flow increases with fever, exercise, or excitement.
Venous hum: A grade continuous I–III murmur heard best in the supraclavicular area. It should resolve when the patient is recumbent or with pressure over the jugular vein.
Pulmonic murmur: Heard as a grade I–III systolic ejection murmur in the first half of systole. It is generally best heard in the left upper sternal border.
On Amy's examination, you hear a grade III/VI systolic murmur in the pulmonic area with fixed splitting of the second heart sound. She is otherwise healthy without any cardiac symptoms.
Question 13.2.11 What is the appropriate next step in management of this issue?
B) Endocarditis prophylaxis at the dental visit next week.
C) ECG and chest radiograph.
D) Limit physical activity.
E) Refer for immediate operative repair.
Answer 13.2.11 The correct answer is "C." Most likely, Amy has an ASD or atrial septal defect. The murmur is a systolic ejection murmur heard best at the upper left sternal border. The sound you hear is caused by increased flow across the pulmonic valve creating a relative stenosis (more volume needs to get through a relatively fixed outlet) and NOT from flow across the ASD. The increased flow across the pulmonic valve causes a wide, fixed split S2. There may be a mid-diastolic rumbling murmur at the lower left sternal border from increased flow across the tricuspid valve if the ASD is very large. The chest x-ray may demonstrate cardiomegaly with increased pulmonary vascular markings. The ECG can be normal or may show mild right ventricular hypertrophy, right axis deviation, and/or right bundle branch block with the characteristic rsR' pattern in the right precordial leads. Children with an ASD do NOT need endocarditis prophylaxis (except for the first 6 months after their surgical repair) and rarely need to limit their physical activity. Most small ASDs will close spontaneously by age 4 years. Closure by one of a variety of methods is recommended for symptomatic and significant left-to-right shunts with right ventricular enlargement.
Objectives: Did you learn to…
Describe the causes of neonatal hyperbilirubinemia?
Manage an infant with breastfeeding failure jaundice?
Identify risk factors for severe hyperbilirubinemia?
Recommend vaccines for children in accordance with CDC guidelines?
Identify vaccine misconceptions, list MMR side effects, and identify contraindications to immunization?
Recognize stages of infant development?
Describe and manage breath-holding spells?
Differentiate benign from pathologic cardiac murmurs in childhood?