Case Study 1: Well Child Visit

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Amber Jackson is a 20-week-old female in your office for a 4-month well child check (WCC).
Both parents are present. The father is thin and appears to be in his late thirties. The mother looks
younger, possibly in her twenties. She is Filipino, about 4’10”, and less than 100 Ibs.
History of Present Illness:
“Amber is just here for her shots. We do have some concerns. What should we be giving her for
formula? She was getting constipated, so | put some Karo syrup in her formula (1 tsp per bottle)
and switched her to Low-iron Similac. Is that okay? Also, she is still up twice a night. How much
longer is that going to last? Also concerned that their daughter cries a lot. Usually starts at about
5:00 pm in the evening and last for about two hours. Is this behavior called colic? The mother
also expresses concern about her dose of inactivated poliovirus vaccine (IPV). “I was told that |
had to have that before Amber could get hers.”
Medical History:
Normal spontaneous vaginal delivery (NSVD) at term. Milestones all within normal limits on
previous visit. Has just started to try to turn over. Immunization record is as follows:
Vaccine Date Given Initials
DTap 2 months AA
IPV
Hib 2 months AA
PCV 2 months AA
Hep B Birth, 2 months CO, AA

Family Medical History:
MGM: 44 yrs old: A& W
MGF: 46 yrs old: A& W
PGM: 53 yrs old: HTN, DM—type 2

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PGF: 58 yrs old: prostate cancer
Mother: 27 yrs old: A& W
Father: 37 yrs old: A&W
Social History:
Lives with both parents. Father works as a truck driver. Mother stays at home. Mother has been
in this country for about 5 years. Mother describes Amber as a good baby except during the two
hours in the evening when nothing will satisfy her.
Medications:
None
Allergies:
None
Growth Pattern:
Measure Age Measurement Percentile
Length 2 weeks 20″ 45%
2 months 21 3/4″ 45%
4 months 23 1/2″ 40%

Weight Birth 6 lbs, 15 oz

2 weeks 6 lbs, 14 oz 25%
2 months 8 lbs, 8 oz 20%
4 months 11 lbs, 1 oz 15%

Head Circumference

2 weeks 34 cm 25%
2 months 37 cm 30%
4 months 39 cm 25%

Review of Systems:
General: Good energy level
Skin: No itching or rashes
HEENT: Denies cold

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Thorax: Denies appearance of shortness of breath
Cardiac: Color good
Gastrointestinal: No vomiting, constipation, or diarrhea; usually two soft, brown bowel
movements per day until 2 weeks ago, then had 2 days without BM for which formula
was changed; strains with BMs at times
Genitourinary: No odor to urine; six to seven wet diapers per day
Extremities: No joint swelling
Neurological: No seizures
Nutrition: Was nursing until about 2 to 3 weeks ago; started on Similac but because very
constipated so added 1 tsp of Karo syrup and switched to low-iron Similac; taking 24-32
oz of formula per say; has not yet had cereal or other solid food.
Physical Examination:
Vital signs: Temperature: 98° F; pulse: 106 beats/min; respirations: 24 breaths/min
General: Well nourished, well developed; in no acute distress
HEENT: Normocephalic without masses or lesions, pupils equal, round, and reactive to
light; extraocular movements intact; nares patent and noninjected; throat without redness
or lesions; tympanic membranes (TMs) noninjected, cone of light well defined; TMs
mobile; fontanels palpable, soft, and flat.
Neck: Supple without thyromegaly or adenopathy Thorax: Clear to auscultation and
percussion Heart: Regular rate and rhythm; no murmurs, rubs, or gallops
Gastrointestinal: No hepatosplenomegaly; abdomen soft, nontender; bowel sounds
normoactive
Extremities: Femoral pulses 2+; full range of motion of hips; no Ortolani’s sign; no
cyanosis, clubbing, or edema

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Neurological: Babinski signs equivocal

First answer the questions presented in the present illness section of this case study.
 At this point in the scenario what are your diagnoses?
Constipation and colic.
 What is your differential diagnosis for the complaint of constipation?
Formula allergy or intolerance, congenital megacolon (Hirschsprung’s disease), and
celiac disease. It is possible that the constipation might also step from dehydration and formula
change.
 Please provide the pathophysiology for each of your differentials.
Formula intolerance is an infant’s inability to digest and absorb nutrients from the
formula, resulting in constipation, excessive crying, diarrhea, and other symptoms. Although the
pathophysiology of formula intolerance is not well known, it is thought to stem from lactose
intolerance, protein intolerance, malabsorption, immaturity of the infant’s GIT, overfeeding, and
changes in formula (Vivatvakin et al., 2020).
Celiac disease occurs when the body’s immune system launches an autoimmune attack
against “own” tissues when an individual consumes gluten. This attack destroys the gut (small
intestine), making it difficult for people to digest and absorb nutrients properly. Celiac disease is
associated with symptoms like constipation, abdominal pain, diarrhea, and bloating (Fifi,
Velasco-Benitez, & Saps, 2020).
It is also possible the constipation is caused by Hirschsprung’s disease, a congenital
disease that affects the colon (large intestine) and causes difficulty passing stool. This condition

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is congenital (present at birth) due to missing nerve cells (ganglion cells) in the infant’s large
intestine and rectum. In areas missing ganglion cells, the colon does not contract enough to push
stool or material through, causing symptoms blockage, constipation, bloating, and diarrhea.
Finally, it is likely that dehydration (not getting enough fluids), changes in diet (adding Karo
syrup to the formula), and switching to low-iron Similac might be causing the constipation.
 What is the pitfall of Amber’s low-iron formula? Explain your answer based on expected
physiological occurrence at 4 months of age.
One likely downside of Amber’s low-iron formula is that her iron levels might drop
significantly. Besides predisposing her to constipation, inadequate iron in the body might
negatively impact Amber’s growth and development, including the formation of red blood cells.
If not monitored and corrected, iron deficiency can lead to anemia, a condition characterized by
pale skin, weakness, irritability, dark-colored urine, jaundice (yellow skin), headaches,
dizziness/fainting, swellings in the feet and hand, inattentiveness, fussiness, and decreased
appetite.
 What is you plan of care for Amber at this visit?
At this visit, the three main concerns identified are constipation, feeding and colic or
crying behavior. The following is my plan to address these issues. For constipation, parents must
discontinue the Karo syrup and revert to a formula like a low-lactose formula. Babies are often
weaned off of formula and switched to low-iron Similac at six months and full fat dairy milk at
twelve months. Therefore, for her feeding, low-iron Similac is appropriate for Amber’s age (four
months), although it is advisable to introduce solid foods to her diet. Mashed cooked grains and
milk cereals can be mixed with her formula, water, or breast milk. Amber can also be introduced
to pureed or mashed fruits like apples, vegetables like carrots, and others foods. These hard fruits
and vegetables (carrots and apples) must be cooked for easy pureeing and mashing (CDC, 2021).

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 If Amber’s length/height measurements continue along this same course what would be
your differential diagnosis? Give at least four differential diagnoses.
The four potential differential diagnoses for Amber are:

1. Short stature/familial short stature/idiopathic short stature: This is a condition in
   which a child’s height is in the third percentile for the average height of a given age.
   Short statute means the child’s height is shorter than the average height of children of his
   or her age. It can be caused by genetic, developmental, and hormonal factors (Rani et al.,
   2022).
2. Constitutional growth delay: Typically, the term “constitutional growth delay” is
   associated with the growth velocity or tempo. The tempo/velocity of growth usually
   varies from child to child; it may be fast, slow, or normal. Some children might grow later
   than others, leading to delayed bone age. These kids appear small for their age and often
   enter puberty at later ages than their peers. Reasons for constitutional growth delays range
   from malnutrition during early childhood and the gestational period or it could be due to
   genetic factors (mother and father being short).
3. Endocrine disorders (growth hormone deficiency): The primary cause of familial short
   stature is GHD deficiency. What usually happens is that the hypothalamus releases the
   growth hormone-releasing hormone (GHRH), which in turn stimulates the secretion and
   production of growth hormone. Growth hormones work on tissues like the liver,
   stimulating the production of insulin-like growth factor-1 (IGF-1). Essentially, IGF-1
   works on bones and encourages endochondral ossification.
4. Down’s syndrome: It is also likely that Amber’s lack of linear growth or short stature
   stems from an underlying genetic disorder like Down’s syndrome. Other genetic

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conditions that might delay growth are Prader-Willi syndrome, 3M syndrome, Turner
syndrome, and Silver-Russell syndrome (Rani et al., 2022).
 What tests should be performed.
The medical tests required to diagnose short stature are complete blood count (CBC) and
assessment of IGF-1 and growth hormones in blood serum, and evaluation the child’s nutrition.
Additional tests include x-rays to approximate and compare chronological and bone ages. A
genetic test might also be required to rule out Down’s syndrome and other hereditary diseases.
 List the three most important interventions.
 Amber’s mom tells you that she is planning to take Amber to visit her parents in the
Philippines in two months.
 She is concerned because measles is endemic to that part of the world and she is afraid
that Amber may contract measles.
 What is your response to mom?

Amber is in the clinic for her 7-year-old WCC.
To date, she has received the following immunizations:

DtaP: 2,4, & 6 months of age
Hib: 2 & 4 months of age
Hep B: birth, & 2 months of age
IPV: 2 & 4 months of age
PCV: 2 & 4 months of age

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MMR: 12 months of age

 Based on this immunization record, what history information would you obtain?
 What immunizations will she receive today?
 What anticipatory guidance should be considered related her immunizations?

At 12 years of age, Amber comes to your office to a sport physical. She is excited that she made
the swimming team and will probably compete in the 100-meter free style.
 How does a sport physical differ from a WCC physical?
 What is important for a focus history (past and present)?
 Certain sports lend themselves to teenagers engaging in unhealthy dietary practices.
 Name at least 5 sports associated with unhealthy dietary practices.

As Amber approaches adolescence:
 What are some of your concerns in general?
Amber states that some of her friends have started their “periods,” and she wonders when she
will experience menarche. You notice that she is already had her growth spurt.
 Your response to Amber is…
 If she does not experience menarche as the expected time what could possibly be the
underlying causes?
 What history, past and present would you obtain?
 What is your differential diagnosis?

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References
CDC. (2021). When, what, and how to introduce solid foods.
https://www.cdc.gov/nutrition/infantandtoddlernutrition/foods-and-drinks/when-to-
introduce-solid-foods.html
Fifi, A. C., Velasco-Benitez, C., & Saps, M. (2020). Celiac disease in children with functional
constipation: A school-based multicity study. The Journal of Pediatrics, 227, 77-80. doi:
10.1016/j.jpeds.2020.07.052
Rani, D., et al. (2022). Short stature. StatPearls [Internet].
https://www.ncbi.nlm.nih.gov/books/NBK556031
Vivatvakin, B., et al. (2020). Clinical response to two formulas in infants with parent-reported
signs of formula intolerance: A multi-country, double-blind, randomized trial. Global
Pediatric Health, 7. doi: 10.1177/2333794X20954332