Baby Basics - Common Concerns of the

Infant Years Jennifer W. Swoyer, DO

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Baby Basics- Common Health

Concerns of the Infant Years

Jennifer W. Swoyer, DO

Photos posted by permission of Danielle Campbell, DO

Overview

Cases representative of common health

concerns of the neonate and infant

Diagnosis

Pathophysiology

Management

Answer boards style question

**Key words/clues in bold throughout**

Case #1

You are reviewing the lab work of a neonate at 24 hours of life. The total serum bilirubin is 15 mg/dL with a direct bilirubin of 0.2 mg/dL. The child was born at 40 weeks gestation with apgars of 9/9 and is doing well. On exam the child’s sclera, face, and chest appear yellow and there is a one centimeter cephalohematoma on the R parietal region. The child is being exclusively breast fed and is feeding well. What is the appropriate management for this child?

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Neonatal Jaundice

Caused by:

◦ increased bilirubin production

◦ decreased bilirubin clearance

◦ increased enterohepatic circulation of

bilirubin

Kernicterus

Term used to describe the chronic and

permanent sequela of bilirubin toxicity

Severe hyperbilirubinemia- TB >25 to 30

mg/dL

At this level unconjugated bilirubin can cross the

blood-brain barrier and cause cell death

Hyperbilirubinemia

Defined as TB >95th percentile on the hour-specific Bhutani nomogram in infants ≥35 weeks gestation

Treatment Options

◦ Phototherapy Intensive

Home

Sunlight

◦ Exchange Transfusion

◦ IVIG, Phenobarb, Ursodeoxycholic acid, Metalloporphyrins

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Risk Factors for the Development

of Severe Hyperbilirubinemia Pre-discharge TB >95th percentile for age

Jaundice within the first 24 hours of life

Cephalohematoma or significant bruising from birth trauma

Exclusive breastfeeding ◦ nursing is not going well and weight loss is

excessive (>12 percent of birth weight)

Hemolytic disease

Gestational age 35 to 36 weeks or less

Previous sibling who received phototherapy

East Asian race

Albumin < 3 g/dL

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Indications for Phototherapy

For infants at low risk (≥38 weeks gestation and without risk factors), intensive phototherapy is started at the following TB values:

◦ 24 hours of age: >12 mg/dL

◦ 48 hours of age: >15 mg/dL

◦ 72 hours of age: >18 mg/dL

Infants in this category who have TB levels 2 to 3 mg/dL below the recommended levels may be treated with fiber optic or conventional phototherapy at home

Indications for Phototherapy

For infants at medium risk (≥38 weeks gestation with risk factors or 35 to 38 weeks gestation without risk factors), intensive phototherapy is started at the following TB values:

◦ 24 hours of age: >10 mg/dL

◦ 48 hours of age: >13 mg/dL

◦ 72 hours of age: >15 mg/dL

The threshold for intervention may be lowered for infants closer to 35 weeks and raised for those closer to 37 6/7 weeks.

Indications for Phototherapy

For infants at high risk (35 to 38 weeks

gestation with risk factors), phototherapy

is initiated at the following TB values:

◦ 24 hours of age: > 8 mg/dL

◦ 48 hours of age: >11 mg/dL

◦ 72 hours of age: >13.5 mg/dL

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Red Flag

JAUNDICE IN THE FIRST 24

HOURS OF LIFE!

◦ Most likely due to hemolysis and will most

likely need phototherapy or other

interventions

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Case #1

You are reviewing the lab work of a neonate

at 24 hours of life. The total serum

bilirubin is 15 mg/dL with a direct

bilirubin of 0.2 mg/dL. The child was born at

40 weeks gestation with apgars of 9/9 and

is doing well. On exam the child’s sclera,

face, and chest appear yellow and there

is a one centimeter cephalohematoma

on the R parietal region. What is the

appropriate management for this child?

Answer Choices

A. IVIG

B. initiate phototherapy

C. exchange transfusion

D. re-check TB in 48 hours

E. do nothing

Answer Choices

A. IVIG

B. initiate phototherapy

C. exchange transfusion

D. re-check TB in 48 hours

E. do nothing

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Case #2

During a well baby exam on a six month

old infant that is new to your practice you

assess for the red reflex. You are unable

to illicit a red reflex in the infant’s L eye

and the reflex actually seems to be white.

What is your initial step in management?

Leukocoria

Differential ◦ Retinoblastoma- 47 percent of cases in one

series

◦ Persistent fetal vasculature

◦ Retinopathy of prematurity

◦ Cataract

◦ Coloboma (fissure or cleft) of choroid or optic disc

◦ Uveitis

◦ Toxocariasis

◦ Coats' disease

◦ Vitreous hemorrhage

◦ Retinal dysplasia

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Retinoblastoma

most common intraocular malignancy of

childhood

approximately 300 new cases per year

usually diagnosed in children < 2 y/o

sporadic and heritable forms

◦ If bilateral then always inherited

◦ Unilateral is usually sporadic

Pathophysiology

mutational inactivation of both alleles of

the retinoblastoma (RB1) gene

untreated retinoblastoma grows to fill the

eye and destroys the internal architecture

of the globe

metastasizes after six months

death occurs within years

Case #2

During a well baby exam on a six month

old infant that is new to your practice

you assess for the red reflex. You are

unable to illicit a red reflex in the

infant’s L eye and the reflex actually

seems to be white. What is your initial

step in management?

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Answer Choices

A. re check at 9 month well check

B. dilate the eye in the office to better

assess the retina

C. send for ophthalmology evaluation

D. start antibiotic drops and re check in

one week

E. do nothing

Answer Choices

A. re check at 9 month well check

B. dilate the eye in the office to better

assess the retina

C. send for ophthalmology

evaluation

D. start antibiotic drops and re check in

one week

E. do nothing

Case #3

At a routine two week well check you are

examining an otherwise healthy full term

female and notice a +Galeazzi test on the

R and feel a “clunk of entry” with the

Ortolani maneuver on the R. What is

your first step in management?

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Developmental Dysplasia of the Hip

Developmental dysplasia of the hip

(DDH)

◦ abnormal development of the hip with

respect to instability of the hip joint and

dysplasia of the acetabulum

Pathophysiology

Ligamentous laxity predisposes the

developing hip to mechanical forces that

cause the femoral head to move outside

of the acetabulum (dislocation)

◦ dysplasia appears to be the result of

dislocation

Risk Factors

Female predominate- 4:1 F:M

Breech positioning

Family history of DDH

Limited fetal mobility

◦ oligohydramnios

◦ firstborn infants

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Screening Guidelines

USPSTF

◦ evidence is insufficient to recommend routine

screening for DDH as a means to prevent

adverse outcomes

◦ newborn screening leads to over diagnosis of

hips that do not benefit and may be harmed

by treatment

Screening Guidelines

Pediatric Orthopaedic Society of North

America (POSNA)

◦ Responds to USPSTF by pointing to the value

of early diagnosis

◦ Recommends following the AAP Clinical

Practice Guidelines

assessment for DDH at every well-child visit

until the child is walking normally

Physical Exam Findings

Asymmetry

◦ Apparent shortening of one femur

+ Galeazzi test

◦ Asymmetry of inguinal, thigh, or gluteal skin folds

◦ gait asymmetry

Hip instability

◦ + Ortolani and Barlow maneuvers

> 3 mos old: limitation of abduction

(<45º) is the most reliable sign of DDH

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Barlow Ortolani

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Appropriate Management

Definite signs of instability

◦ ≤ two weeks: directly to orthopedics

without imaging

◦ > two weeks: age specific imaging or ortho

AAP recommends US < 3 mos and XR > 3 mos

Subtle or nonspecific findings

◦ Newborn: re-examine in two weeks

◦ Two-weeks old: re-examine in two weeks or US

or refer to ortho

◦ > two weeks: age specific imaging

Case #3

At a routine two week well check you

are examining an otherwise healthy full

term female and notice a +Galeazzi

test on the R and feel a “clunk of

entry” with the Ortolani maneuver on

the R. What is your first step in

management?

Answer Options

A. refer to ortho

B. CT R hip

C. US L hip

D. Xray R hip

E. Xray L hip

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Answer Options

A. refer to ortho

B. CT R hip

C. US L hip

D. Xray R hip

E. Xray L hip

Case #4

You receive a call from a worried mom about her 4 month old son vomiting after feeds. The patient is exclusively breastfed and mom reports he spits up approximately one ounce of non-bloody, non-bilious vomitus after each feed. The infant is at the 50th percentile for both height and weight, which has been consistent since birth. He is not excessively irritable, and has no other complaints or medical problems. What is the most appropriate treatment at this point?

GERD

Extremely common in healthy infants

◦ gastric fluids reflux into the esophagus 30 or

more times daily normally

Often results in regurgitation into the oral cavity

Frequency decreases with increasing age

Very uncommon in children > 18 mos

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GERD- Diagnostic Approach

Uncomplicated

◦ Good weight gain

◦ feeds well

◦ not unusually irritable

◦ “happy spitter”

Complicated

◦ Failure to thrive

◦ GI blood loss

◦ Recurrent PNA

Warning Signs

◦ Bilious vomiting

◦ GI bleeding: hematemesis, hematochezia

◦ Consistently forceful vomiting

◦ Onset of vomiting after six months of life

◦ Constipation, Diarrhea

◦ Abdominal tenderness, distension

◦ Hepatosplenomegaly

◦ Bulging fontanelle

◦ Macro/microcephaly

◦ Seizures

◦ Genetic disorders (eg, Trisomy 21)

◦ Other chronic disorders (eg, HIV)

◦ Fever, Lethargy, Failure to thrive

Uncomplicated GERD

“happy spitter”

Warning signs of complication absent

No intervention is required

If the reflux is causing significant adverse effects on quality of life ◦ trial of a milk-free diet

◦ thickening of feeds

Acid suppression and prokinetic agents ◦ not valuable in treating children < 1 y/o

with uncomplicated GERD

◦ Trial only if above measures fail and QOL an issue

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Indications for Pharmacotherapy

Esophagitis documented by endoscopic

biopsies

◦ PPI most effective

Eosinophilic esophagitis

◦ PPI + leukotriene inhibitor

Case #4

You receive a call from a worried mom about her 4 month old son vomiting after feeds. The patient is exclusively breastfed and mom reports he spits up approximately one ounce of non-bloody, non-bilious vomitus after each feed. The infant is at the 50th percentile for both height and weight, which has been consistent since birth, he is not excessively irritable, and has no other complaints or medical problems. What is the most appropriate treatment at this point?

Answer Choices

A. Stop breastfeeding and start soy

formula immediately

B. Order an upper GI series

C. Reassure and follow

D. Refer to GI

E. Start PPI

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Answer

A. Stop breastfeeding and start soy

formula immediately

B. Order an upper GI series

C. Reassure and follow

D. Refer to GI

E. Start PPI

Case #5

You are evaluating a 3 week old male neonate in the office due to slow weight gain and vomiting. He has not yet reached birth weight. Mom says she is feeding him every one to two hours, but he vomits after each feeding and is still hungry afterwards. The vomitus is non-bloody and non-bilious. Mom describes the episodes of vomiting to be projectile. On exam you can palpate a small mass in the RUQ. What is the most appropriate treatment for this child?

Pyloric Stenosis

Hypertrophy of the pylorus eventually

progressing to near-complete

obstruction of the gastric outlet

Male predominant- M:F = 4:1 to 6:1

Peak incidence of dx: 3-5 weeks of age

30% occur in firstborn children

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Pyloric Stenosis

Etiology

◦ Unknown

◦ May have a genetic predisposition

Classic presentation

◦ 3- to 6-week-old male baby

◦ immediate postprandial, non-bilious,

often projectile vomiting

◦ demands to be re-fed soon afterwards

"hungry vomiter"

Plyoric Stenosis

Physical exam findings

◦ emaciated and dehydrated

◦ palpable "olive-like" mass at the lateral

edge of the rectus abdominus in the RUQ

Lab findings

◦ hypochloremic metabolic alkalosis

◦ hypokalemia may develop after 3 weeks of

vomiting

Pyloric Stenosis

Diagnosis

◦ US vs upper GI

Recommendation of which modality to chose varies

from center to center and case to case

Treatment

◦ Definitive treatment for pyloric stenosis is

surgery

Pyloromyotomy

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Case #5

You are evaluating a 3 week old male neonate in the office due to slow weight gain and vomiting. He has not yet reached birth weight. Mom says she is feeding him every one to two hours, but he vomits after each feeding and is still hungry afterwards. The vomitus is non-bloody and non-bilious. Mom describes the episodes of vomiting to be projectile. On exam you can palpate a small mass in the RUQ. What is the most appropriate treatment for this child?

Answer Choices

A. increase frequency of feeds and

decrease amount of each feed

B. fundoplication

C. start PPI

D. re evaluate in two weeks

E. pyloromyotomy

Answer Choices

A. increase frequency of feeds and

decrease amount of each feed

B. fundoplication

C. start PPI

D. re evaluate in two weeks

E. pyloromyotomy

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Case #6

A two year old male without significant past medical history taking no medications presents to your office c/o abdominal pain which began three hours ago. Pain is described as intermittent and crampy. Episodes are becoming more frequent and the patient tends to pull his legs up to his chest during the episodes. No n/v/d but his last stool did have some blood and mucous in it. On exam vital signs are stable, the abdomen is soft, mildly distended, and without peritoneal signs. You notice a sausage shaped mass on palpation of the RLQ. What is your diagnosis and treatment?

Intussusception

Invagination of a part of the intestine into itself

Most common abdominal emergency in early childhood ◦ particularly in children younger than two years of

age

Most common cause of intestinal obstruction in infants between 6 and 36 months of age ◦ 60% before one y/o

◦ 80% before two y/o

Male predominant- M:F = 3:2

Intussusception

Occurs most often near the ileocecal junction

Proximal segment of bowel, telescopes into a distal segment dragging the associated mesentery with it

◦ Leads to intestinal edema Can ultimately lead to ischemia, perforation, and

peritonitis

Etiology- most cases thought to be idiopathic but some increased incidence post-viral illness

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Intussusception

Concept of “lead point”

◦ lesion or variation in the intestine that is trapped by peristalsis and dragged into a distal segment of the intestine

meckel diverticulum

polyp

tumor

hematoma- HSP

vascular malformation

thick inspisssated stool- CF

◦ Must be vigilant for pathological lead points

Intussusception

Presentation

◦ sudden onset- intermittent, severe, crampy,

progressive abdominal pain

◦ inconsolable crying

◦ drawing up of the legs toward the

abdomen

◦ Episodes occur at 15-20 minute intervals

Become more frequent

Vomiting may follow episode

Pain free between episodes

Intussusception

Physical Exam

◦ +/- abdominal distention

◦ sausage-shaped abdominal mass may be

felt in the right side of the abdomen

◦ Stool contains blood (70%) and sometimes

mucous

Resembles currant jelly

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Intussusception

Classic triad

◦ Abdominal pain

◦ Sausage-shaped palpable mass

◦ Currant jelly stool

Only seen in 15% of patients at presentation,

so high index of suspicion necessary

Intussusception

Patients with classic presentation and no suspicion for perforation may proceed directly to contrast enema for dx and tx

If diagnosis in question: ◦ Radiological studies

US- modality of choice in most institutions Approaches 100% sensitivity/specificity

Will see a “bull's eye" or "coiled spring" lesion

Plain film Less sensitive/specific than US

signs of intestinal obstruction

target sign- two concentric radiolucent circles superimposed on the right kidney

crescent sign- soft tissue density projecting into the gas of the large bowel

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Intussusception

Treatment ◦ No perforation Nonoperative reduction using hydrostatic or pneumatic

pressure by enema Water soluble contrast enema under fluoroscopic

guidance

◦ Perforation suspected Laparotomy

Recurrence ◦ recurs in approximately 10 percent of

children after successful nonoperative reduction Should prompt search for pathological lead point

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Case #6

A two year old male without significant past medical history taking no medications presents to your office c/o abdominal pain which began three hours ago. Pain is described as intermittent and crampy. Episodes are becoming closer together and the patient tends to pull his legs up to his chest during the episodes. No n/v/d but his last stool did have some blood and mucous in it. On exam vital signs are stable, the abdomen is soft, mildly distended, and without peritoneal signs. You notice a sausage shaped mass on palpation of the RLQ. What is your diagnosis and treatment?

Answer Choices

A. Mekels Diverticulum- watchful waiting

B. Intussusception- laparotomy

C. Mekels Diverticulum- laparatomy

D. Intussusception- contrast enema

E. Volvulus- laparotomy

Answer Choices

A. Mekels Diverticulum- watchful waiting

B. Intussusception- laparotomy

C. Mekels Diverticulum- laparatomy

D. Intussusception- contrast enema

E. Volvulus- laparotomy

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Questions???

References

www.uptodate.com

Hay, Current Diagnosis and Treatment: Pediatrics, 19th edition, 2009

Le, First Aid for the Family Medicine Boards, 2008

Rakel, Textbook of Family Medicine, 8th edition, 2011

Sotirios, Transcutaneous Bilirubin Levels for the First 120 Postnatal Hours in Healthy Neonates, Pedaitrics, Vol. 125 No. 1, 1/1/2010.

Waickus, Family Medicine Board Review, 4th edition, 2010