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Case 26
9-WEEK-OLD WITH FAILURE TO THRIVE- BOBBY
Author: Jerold Woodhead, M.D., University of Iowa College of Medicine

Learning Objectives
1. Identify abnormal infant growth patterns using standard growth charts.
2. Define failure to thrive in infancy and discuss its causes.
3. Apply knowledge of feeding options and of infant nutritional requirements to
the management of an infant who has poor weight gain.
4. Explain why cystic fibrosis (CF) causes malnutrition.
5. List and discuss the most common clinical characteristics of infants who
have CF.
6. Discuss the basic genetics of CF.
Summary of clinical scenario: The public health nurse has referred
nine-week-old Bobby with concern that he is not adequately gaining weight.
Despite good caloric intake, Bobbys weight gain and weight for length have both
fallen from the 25th percentile at birth to less than the 3rd percentile today.
Further questioning reveals he has loose, stinky stools without blood or mucus.
Physical exam is unremarkable. Labs reveal elevated sweat chloride, and Bobby is
diagnosed with cystic fibrosis (CF). He also has a hemolytic anemia secondary to
vitamin E deficiency resulting from fat malabsorption.
Poor weight gain

Key Findings from

History

Good caloric intake

Loose stools
Good parenting skills
Negative review of systems

Key Findings from

Physical Exam

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Thin, little subcutaneous fat

Pallor
No dysmorphic features

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Elevated heart rate

Malabsorption
Formula allergy

Differential
Diagnosis

Improperly prepared formula

Psychosocial failure to thrive
Inadequate formula volume
Congestive heart failure

Key Findings from

Testing

Anemia

Final Diagnosis

Cystic fibrosis

Elevated sweat chloride

Case highlights: Students explore the reasons for the infants failure to thrive.
When laboratory tests uncover the diagnosis of cystic fibrosis, the case explains
how CF causes malnutrition, the basic genetics of CF, and the long-term
consequences for children with the disease.

Key Teaching Points

Knowledge
Normal vital signs in children:

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Age

Weight (kg)*

Pulse (bpm) Respirations (/min)

Newborn

3.5

100160

3060

6 months

110160

2438

1 year

19

90150

2230

3 years

14

80125

2230

5 years

18

70115

2024

10 years

33

60100

1622

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12 years

40

60100

1622

14 years

50

60100

1420

*Weight is approximate median of boys and girls combined.

Assessing weight gain:
Weight is the most sensitive indicator of nutritional status.
Weight loss immediately after birth rarely > 10% of birth weight
Healthy infants gain approximately 2030 grams per day during the first
four months of life.
Weight typically doubles by about four months.
Formula-fed infants tend to gain weight faster than breastfed infants
because they ingest more calories.
Reduced linear growth usually indicates more severe, prolonged
malnutrition.
The brain is preferentially spared in protein-energy malnutrition, so reduced
growth in head circumference occurs late and indicates very severe or
longstanding malnutrition.
Failure to thrive (FTT):
Definition: FTT (or lack of physiologic growth and development) is the term used
to describe poor weight gain in children when:
Weight < 3rd percentile
Weight for height/length < 3rd percentile
Rate of growth slows compared to previous growth, crossing two or more
major percentiles downward.
Categorization of FTT
Organic FTT: Growth failure caused by an acute or chronic disorder that
results in inadequate nutrient intake, malabsorption of nutrients, or
increased energy requirements. Common organic causes of FTT in infants
include:
Chronic diarrhea
Formula allergy
Congenital heart defects
Cystic fibrosis
Developmental delay with poor suck and swallow
Renal tubular acidosis
Vomiting caused by severe gastroesophageal reflux or bowel
obstruction
Non-organic FTT: Growth failure not resulting from an underlying disease
or disorder (nearly 90% of FTT cases). Inadequate caloric intake may result

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from:
Poverty
Poor understanding of feeding techniques
Improperly prepared formula
Inadequate supply of breast milk
Neglect of the infant (i.e., lack of food)
Less commonly, there is a psychological basis of non-organic FTT in
which stimulation is lacking because the caregiver is depressed, has
poor parenting skills, or is responding to real or perceived external
stresses.
Causes of anemia in an infant:
Chronic disease: Chronic disease or inflammation can cause a normocytic,
normochromic anemia.
Hemolysis:Causes a decreased total number of red blood cells (RBCs) and
damages the remaining RBCs. A peripheral blood smear can be obtained to assess
RBC morphology.
Blood loss:Causes a normocytic, normochromic anemia.
Physiological anemia:A decrease in hemoglobin occurs in infants because fetal
RBCs have a short half-life. In full-term newborns the marrow is not stimulated to
produce new RBCs until the hemoglobin reaches its nadir of about 11 g/dL (110
g/L) at 79 weeks of age, after which the hemoglobin rises.
Iron deficiency:Leads to microcytosis along with a low hemoglobin. However,
iron deficiency does not manifest this early in full-term infants unless there is
blood loss.
Cystic fibrosis:
Pathophysiology: Cause by mutations in CFTR (cystic fibrosis transmembrane
conductance regulator, or CFTR). When the CFTR protein is defective, results in
disturbed salt balance and buildup of mucus, disrupting normal function of body
organsparticularly the pancreas and lungs. This can lead to malabsorption of
nutrients in the gastrointestinal tract and chronic infection and inflammation of
the lungs.
Symptoms: Some individuals have mild symptomssuch as a chronic cough,
recurrent bronchitis, or sinusitisfor years before a diagnosis is made. A
significant number of patients with CF, 85-90%, have pancreatic insufficiency and
present with steatorrhea and malabsorption. Today, however, the vast majority of
infants with CF are identified by newborn screening, not by symptoms. Making the
diagnosis earlier has made a big difference in how well babies and children with
CF grow
Inheritance: CF is an autosomal recessive disorder. Most people with CF do not
have a positive family history.

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Diagnosis
The sweat chloride test is the main diagnostic test, although genotyping is
adjunctive.
Genetic testing for mutations of the CFTR gene supports the diagnosis of CF
but is generally not sufficient for diagnosis alone. Genetic testing is
important as new methods of treatment for CF become available that may
be able to correct specific gene mutations.
Neonatal metabolic screening: All states require screening for phenylketonuria
and hypothyroidism. In addition, there may be screening for galactosemia,
hemoglobinopathy, biotinidase deficiency, congenital adrenal hyperplasia, maple
syrup urine disease, homocystinuria, and CF.
Reference: Harriet Lane, 16th ed.

Skills
History:
Distinguishing organic from non-organic causes of FTT: The following steps
are helpful in determining the cause of FTT:
Obtain a thorough history and review of systems focusing on signs or
symptoms that might point to an organic cause of FTT:
Consider feeding (ask about effort, appearance of hunger, amount of
time it takes to eat, sweating during feeds, spitting up after feeding)
Calculate caloric intake and compare to normal metabolic needs for
weight
Ask about the consistency and frequency of stools; frequency of
urination
Assess for parental stressors and signs of poor maternal-infant bonding. (If
present, further evaluation and support would be indicated.)
If infant is formula-fed, ensure that formula is being mixed appropriately.
Improperly prepared formula may be too concentrated or too dilute
and result not only in excessive or inadequate calorie intake but also
in electrolyte abnormalities.

Differential diagnosis
1. Malabsorption: History of poor weight gain with good caloric intake and
loose stools makes malabsorption leading diagnosis.
2. Formula allergy: True milk-protein allergy typically causes intestinal blood
loss (either gross or occult). Infants are usually fussy and may vomit. Poor
weight gain as an isolated finding is unusual.
3. Psychosocial FTT (inadequate resources): Inadequate caloric intake
may result from poverty, poor understanding of feeding techniques,
improperly prepared formula, or inadequate supply of breast milk. It

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occasionally reflects neglect of the infant (e.g., lack of food).

4. Congestive heart failure: Important to consider in any child with failure to
thrive. History would likely include difficulty feeding and respiratory distress.

Studies
Occult blood, stool: May indicate milk protein intolerance
Chest X-ray: To look for cardiomegaly and pulmonary infiltrates
Complete blood count (CBC): A CBC and review of the peripheral blood smear
assist in identification of anemia or possible infection.
Blood urea nitrogen (BUN) and creatinine: Poor growth may reflect kidney
failure.
Electrolytes: Important in evaluating hydration status, renal function, and
acid-base status
Fecal elastase: Helpful in evaluating for pancreatic insufficiency
Fecal fat analysis: Lipase, one of the key products of exocrine pancreatic
secretion, is necessary for absorption of fat from the diet. In its absence, fat is
malabsorbed and is excreted in the stool. A single sample of stool may be stained
for fat to identify malabsorption. A more complete analysis is to perform a
72-hour stool collection and quantify the amount of fat in the stool compared to
oral intake of fat during the same time period.
Liver function tests: May suggest congenital or acquired infection or presence of
biliary congestion
Newborn screen: Several conditions identified on the newborn screen could lead
to FTT.
Urinalysis: Important in assessing for renal dysfunction (e.g., renal tubular
acidosis, hematuria, urinary tract infection)
Sweat chloride: The sweat chloride test has been used in the diagnosis of CF
since it was developed in 1959. An abnormal sweat test in someone with
symptoms consistent with CF is most likely to indicate CF, but there are causes of
false positive or false negative sweat tests that need to be considered (false
negatives can occur with a specific, rare CF mutation; false positives can occur
with a number of metabolic disorders, including adrenal insufficiency and
hypothyroidism). The sweat chloride test has a sensitivity of 99%, and specificity
near 90%.

Management
Cystic fibrosis:

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Genetic testing: If genetic testing is not done as part of the diagnostic workup,
most CF experts now recommend genotyping of patients with CF in order to
identify their specific mutations. Although gene therapy for CF is not yet a reality,
there are studies currently evaluating not only gene therapy but also medications
that address specific mutations in CF.
Nutritional management:
Pancreatic enzyme and vitamin replacement
Also need to provide calories at a level greater than the recommended
dietary allowance for age to maintain appropriate nutritional status.
Airway inflammation and infection: Because of the plugging of the airways
with mucus, children with CF have lots of lung infections and can develop
pneumonia.
Pulmonary infections are difficult to treat and require prompt attention.
Multidisciplinary management: Many CF centers across the country have
multiple members on the team, including:
Pulmonologists and nurse practitioners who specialize in CF
Nutritionists who help with growth and feeding support
Social workers to help families cope with the diagnosis and deal with issues
relating to insurance coverage, accessing resources, and managing chronic
disease
Respiratoryand physical therapists to provide education on airway clearance
and help patients understand the importance of exercise in maintaining lung
health
Other specialists, including child psychologists and child life representatives,
pharmacists, and specialists in endocrine and gastrointestinal disorders.
CF patients usually require follow-up at a CF center at least every three months.

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