Poor Weight Gain - Case 6-3: 20-Day-Old Girl
I. History of Present Illness
This 20-day-old Caucasian female infant was referred to the emergency department
by her primary care doctor for FTT. She was born after full-term gestation,
weighing 2.53 kg, via spontaneous vaginal delivery with no complications during
pregnancy. In the first 36 hours of life, she had poor feeding because of poor
suck. She had normal bowel movements and normal urine output in the nursery.
After 36 hours of life, she began to feed well and was discharged to home with
her mother. Over the ensuing 3 weeks, she was seen several times by her primary
physician for weight checks. She failed to regain her birth weight. She was
taking 2.5 to 3 ounces of formula every 2 to 3 hours (approximately eight
3-ounce bottles per day). Formula was being made from powder and mixed
appropriately. There was no emesis, arching, or irritability with feeds. She
had had loose, seedy stools for 2 days before admission. No blood was noted in
the stool. There was nasal congestion but no fever. There were no ill contacts,
except that the mother had had an illness with fever and headache 1 week before
this visit.
II. Past Medical History
The prenatal history was remarkable for maternal tobacco use (one-half pack per
day) but no illicit drug use. Peripartum testing for group B
Streptococcus, hepatitis B, and HIV was negative. The prenatal ultrasound revealed normal fetal
movements. The mother took prenatal vitamins but no other medications during
pregnancy. The infant was born by vaginal delivery complicated only by the
presence of meconium at delivery. The Apgar scores were not known.
There was no family history of stillbirths or miscarriages. There were no known
metabolic disorders, congenital heart disease, seizure disorders, or neurologic
disease. There was no history of cystic fibrosis.
III. Physical Examination
T, 36.9°C; RR, 40/min; HR, 160 bpm; BP, 96/62 mm Hg
Weight, 2.42 kg (less than 5th percentile); length, 46 cm (less than 5th
percentile); head circumference, 35 cm (10th percentile).
In general the patient was cachetic but active. The anterior fontanel was open
and flat. The posterior fontanel was approximately 1 cm wide. There were no
dysmorphic facial features. The pupils were reactive bilaterally. The
oropharynx was clear; specifically, there was no thrush. There was no
lymphadenopathy. The heart and lung sounds were normal. The abdomen was soft.
The liver edge was palpable 1 cm below the right costal margin. The skin was
mottled and pale. A 1-cm hemangioma was located on the left parietal area. The
neurologic examination was normal.
IV. Diagnostic Studies
The following laboratory results were obtained: serum sodium, 136 mEq/L;
potassium, 5.5 mEq/L; chloride, 100 mEq/L; and bicarbonate, 28 mEq/L. The blood
urea nitrogen, creatinine, glucose, calcium, magnesium, and phosphorus values
were normal.
V. Course of Illness
This 20-day-old with moderate malnutrition and FTT was admitted for inpatient
evaluation, including strict calorie counts and feeding observation. Over the
next 2 days, she had adequate caloric intake (as much as 180 to 200 kcal/kg per
day) without documented weight gain. She was also noted to have increased stool
output, with more output than intake. Her stools were positive for reducing
substances. The stool pH was 5.5. All stools were heme negative.
Discussion: Case 6-3
I. Differential Diagnosis
The differential diagnosis in this case was broad. During feeding, the baby was
noted to have a poor suck and swallow. There was a question whether this
difficulty with intake was a primary problem (e.g., neuropathy, spinal-muscle
atrophy) or secondary due to poor nutrition and weakness. When the child was
fed, she gained more strength but still failed to gain weight. When no weight
gain was noted despite adequate caloric intake, malabsorption was considered.
II. Diagnosis
Sweat tests were obtained, which showed good sweat volumes over the collection
time of 30 minutes. The sweat chloride concentration was 95 and 105 mEq/L at
the two sites sampled (normal, less than 40 mEq/L; borderline, 40 to 60 mEq/L;
abnormal, greater than 60 mEq/L). The sweat test was repeated and was again
abnormal. The patient was diagnosed with cystic fibrosis (CF). A baseline chest
radiograph was normal. Supplemental enzymes, vitamin supplementation, and
nebulized albuterol and cromolyn were started. She did well with supplemental
enzymes, documenting excellent catch-up growth while in the hospital.
The diagnosis of CF was considered when a normal, and eventually a supernormal,
calorie intake was achieved but the infant failed to gain weight.
This clinical trial resulted in suspicion of a malabsorption problem, and CF was
considered as the most common cause of malabsorption.
III. Incidence and Epidemiology
The incidence of CF varies by population tested. Overall, it is the most common
life-shortening inherited disease in North America. CF is inherited as an
autosomal recessive disease. Several gene sites have been recognized. The most
important is the
∆F508 mutation on the long arm of chromosome 7. In those of northern European
extraction, it occurs in 1 in every 2,500 live births. Approximately 4% of
whites are carriers of a CF gene. The manifestations of CF are extremely
varied. Table 6-5 shows diagnostic criteria for CF.
IV. Clinical Presentation
The clinical presentation and age at presentation are varied. Manifestation may
be evident at birth, but in some cases CF does not become apparent until
fertility evaluations in young adulthood lead to the diagnosis. All of the
following systems may be involved: gastrointestinal, sweat glands, respiratory
tract, reproductive, orthopedic, and endocrine/
metabolic (hyperglycemia). FTT is one of the most frequent presenting signs.
Table 6-6 shows the indications for sweat testing, listing clinical findings in
patients with cystic fibrosis.
V. Diagnostic Approach
The diagnostic approach is based on phenotypic presentation together with
laboratory confirmation. The laboratory confirmation is usually based on a
positive sweat test with a sweat concentration greater than 60 mEq/L on a sweat
sample of at least 100 mg. Genetic testing is also available (Table 6-7).
Tissue typing gives the indications for sweat testing and also shows the varied
manifestations. Care must be taken, because false-positive and false-negative
results may occur, as shown in Table 6-8.
Newborn screening. Earlier diagnosis of CF is possible in some cases, because newborn infants with
CF have elevated blood immunoreactive trypsinogen levels caused by obstructed
pancreatic ductules. Infants with immunoreactive trypsinogen levels above the
99th percentile typically undergo confirmatory sweat testing and, in some
cases, screening for the principal CF gene mutation (
∆F508).
VI. Treatment
Treatment is best accomplished with a multidisciplinary team and involves
treatment of the lungs, gastrointestinal nutrition, and psychosocial aspects of
the disease, with care being delivered at specialized multidisciplinary center.
Although much research has been directed at aggressive treatment of lung
disease early in life to improve long-term pulmonary function and survival,
recently the nutritional aspects of young children with CF have attracted
attention. Konstan et al. demonstrated that nutritional status in children with
CF at 3 years of age correlates with pulmonary symptoms later in life. In an
observational study of 931 children with CF, they found that children with
weight-for-age below the 5th percentile at 3 years of age had lower pulmonary
function at age 6 years, compared with those above the 75th percentile.
Therefore, poor growth and nutritional status, in addition to lung disease
early in life, contribute to pulmonary function later in life.
The median survival rate has steadily increased, from 14 years in 1969 to 32
years in 2000. Gene replacement therapy is under active investigation. Prenatal
screening is being attempted and appears to have a high degree of patient
satisfaction and understanding. Follow-up in a special CF center is important
so that multidisciplinary services may be aimed at nutrition, pulmonary status,
and avoidance of bacterial infections.
VII. References
1. Collins F. Cystic fibrosis: molecular biology and therapeutic implications. Science 1992;256:774–779.
2. Davis PB, Drumm M, Kontan MW. Cystic fibrosis: state of the art. Am J Respir Crit Care Med 1996;154:1229–1256.
3. LeGrys VA. Sweat testing for the diagnosis of cystic fibrosis: practical
considerations.
J Pediatr 1996;129:892–897.
4. Rosenstein BJ, Zeitlin PL. Cystic fibrosis (seminar). Lancet 1998;851:277–282.
5. Farrell PM, Fost N. Prenatal screening for cystic fibrosis: where are we
now?
J Pediatr 2002;141:758–763.
6. Konstan MW, Butler SM, Wohl MEB, et al. Growth and nutritional indexes in
early life predict pulmonary function in cystic fibrosis.
J Pediatr 2003;142:624–630.
7. Ratjen F, Doring G. Cystic fibrosis. Lancet 2003;361:681–689.
Pictures
Book Source Details
- Book Title: Pediatric Complaints and Diagnostic Dilemmas
- Author(s): Samir S Shah MD; Stephen Ludwig MD
- Year of Publication: 2003
- Copyright Details: Pediatric Complaints and Diagnostic Dilemmas, Copyright © 2003 Lippincott Williams & Wilkins.
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Copyright Details: Pediatric Complaints and Diagnostic Dilemmas, Copyright © 2008 Williams & Wilkins.
More About Causes of Weight gain
» Next page: Poor Weight Gain - Case 6-4: 5-Day-Old Boy (Pediatric Complaints and Diagnostic Dilemmas)
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