INDEX OF SUSPICION

Chronic Constipation in a 7-year-old Boy

Judy-April Oparaji, MD, RDN, CSP,* Theresa Heifert, MD†
*Pediatrics and
†
Pediatric Gastroenterology, Womack Army Medical Center, Fayetteville, NC

PRESENTATION
A 7-year-old boy presents to an outpatient clinic with constipation and abdominal
pain. He has had constipation for several years; however, over the past 3 to 4 months,
his constipation has been worse and he has also had overflow fecal incontinence.
He has almost daily periumbilical abdominal pain, which has caused him to miss
multiple days of school. He has not had fevers, weight loss, dysphagia, vomiting,
nocturnal diarrhea, or bloody stools.
He was evaluated by a different pediatric gastroenterologist earlier in the year and
diagnosed with functional constipation. He was treated with probiotics, polyt-
ethylene glycol 3350, and senna, but he is currently not on any medications. He
stopped polytethylene glycol 3350 as it caused abdominal cramping and senna
because of diarrhea. He did not follow-up as directed. Recent abdominal radiograph
(1 month before visit) shows a large stool burden (Fig 1). The patient’s family does
not want to restart medication without further laboratory tests or imaging.
The parents are concerned that the patient’s pain may be worse with carbo-
hydrates or that he has a milk allergy. Family history is notable for mother
and sister with constipation. There is no family history of inflammatory bowel
disease, thyroid disorders, or celiac disease. He stooled within the first 24 hours
of life.
On examination, his vital signs are normal. He also has adequate growth with his
weight tracking at the 40th to 50th percentile and his height tracking at the 16th to
20th percentile for age. His BMI for age is at the 80th percentile. On physical
examination, he has epigastric tenderness and stool is palpable in the left lower
quadrant of his abdomen; otherwise, his examination is normal. Laboratory results
including a complete blood cell count, comprehensive metabolic panel, thyrotropin/
free thyroxine, and c-reactive protein/erythrocyte sedimentation rate are normal.
Further history and laboratory evaluation reveal the diagnosis.

DISCUSSION
Patient Course
Given his history of potential worsening abdominal pain with carbohydrates and
family concern, a celiac panel was included with the laboratory evaluation. All tests
in the panel were positive with elevated tissue transglutaminase immunoglobulin AUTHOR DISCLOSURE Drs Oparaji and
(Ig) A antibodies >100 (normal 0–3), tTG IgG 43 (normal 0–5), positive endomysial Heifert have disclosed no financial
relationships relevant to this article. This
antibody IgA, elevated deamidated gliadin IgA 238 (normal 0–19), and elevated
commentary does not contain a discussion
deamidated gliadin IgG 95 (0–19). Total IgA level was normal for age. These of an unapproved/investigative use of a
laboratory findings were highly suggestive of celiac disease, and the patient was commercial product/device.

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Figure 1. Abdominal radiograph read as nonobstructed bowel gas
pattern with a copious amount of stool throughout.
referred to pediatric gastroenterology for further evaluation
and definitive diagnosis.
The Condition
Celiac disease, also known as gluten-sensitive enteropathy
or celiac sprue, is an autoimmune disorder in which the
body produces various autoantibodies in response to glu-
ten, a protein found in wheat, rye, and barley. Ingestion of
gluten causes chronic inflammation in the small intestine
and other parts of the body. It is a fairly common disorder
with an increased prevalence in those of European descent.
A strong genetic predisposition is suggested by family
grouping and almost 100% concordance in monozygotic
twins. The strongest genetic association is with human
leukocyte antigen (HLA)-DQ2 and HLA-DQ8—these
haplotypes are present in almost all patients with celiac
disease.
Treatment and Management
Celiac disease has a myriad of presentations. The most
common presenting symptoms are weight loss, failure to
thrive, chronic diarrhea, vomiting, and abdominal disten-
sion. However, as this case illustrates, up to 20% of children
can present with constipation instead of diarrhea. Common
extraintestinal manifestations include short stature, iron-
deficiency anemia, arthralgia, and dermatitis herpetiformis.
There are several celiac-specific antibody screening tests.
These tests screen for IgA or IgG autoantibodies against
transglutaminase, endomysial antibodies, and antibodies
against deamidated forms of gliadin peptides. IgA antibodies
are more specific for gastrointestinal secretions. Anti-tTG
IgA is the most cost-effective and reliable test to identify
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those who may have disease in IgA sufficient individuals.
Selective IgA deficiency is more common in those with celiac
disease than the general population. These patients should
have IgG-based tTG, endomysial antibodies, or deamidated
forms of gliadin peptides testing performed. These tests are
not as reliable in children younger than 3 years old, and a
pediatric gastroenterologist may consider gene testing for
HLA-DQ2 and HLA-DQ8. These genes are present in up
to 40% of the general population, but a negative result
correlates with a high negative predictive value for celiac
disease. Thus, in this patient population, a negative HLA-
DQ2, HLA-DQ8, or both virtually excludes the diagnosis
of celiac disease or the chances of developing celiac dis-
ease in the future, and these patients do not require
further testing.
The definitive diagnosis of celiac disease is made by
esophagogastroduodenoscopy (EGD). Small bowel biopsies
taken during this procedure are evaluated for histological
changes including villous atrophy, intraepithelial lymphocytes,
and crypt hyperplasia. An EGD should be done while the
patient is still on a gluten-containing diet to decrease the
chance of a false-negative test.
Those with certain other genetic and autoimmune dis-
orders are at increased risk for celiac disease and should
be screened, even if they are asymptomatic. These condi-
tions include type 1 diabetes, autoimmune thyroiditis,
Trisomy 21, Turner syndrome, William syndrome, and
Noonan syndrome. First degree relatives who are at least 3
years old should also be screened for celiac disease. Repeat
screening should be done every 3 to 5 years or if symptoms
develop.
The only treatment for celiac disease is a gluten-free diet
for life. Even foods that do not contain gluten, such as oats,
may have cross-contamination. It is important to include
a dietitian on the treatment team to provide nutritional
education.
Follow-up
The patient had an EGD, which showed erythema and
nodularity in the duodenal bulb and scattered notching in the
second portion of the duodenum. Histology showed duodenal
mucosa with increased intraepithelial lymphocytes, villous
blunting, crypt hyperplasia, and focal acute duodenitis. This
confirmed the diagnosis of celiac disease.
He was referred to a pediatric dietitian for education about
the gluten-free diet. His abdominal pain improved a few
weeks after he and the family removed gluten from their diet.
At his 1-month follow-up, he still had intermittent hard stools
and was started on a daily laxative. His first-degree family
relatives were tested while still on a gluten diet, and his 5- • Patients with certain autoimmune disorders and first-
year-old sister also had a positive celiac screen. She will be degree family members of patients with celiac disease
scheduled for an EGD in the near future. should be screened, even if they are asymptomatic.
• An EGD should be done while the patient is still on a gluten-
Lessons for the Clinician containing diet to decrease the chance of a false-negative test.
• Clinicians should be aware of the varying presentations of Suggested Readings for this article can be found at
celiac disease. http://pedsinreview.aappublications.org/content/42/No. S1/109.

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 Chronic Constipation in a 7-year-old Boy
Judy-April Oparaji and Theresa Heifert
Pediatrics in Review 2021;42;S109
DOI: 10.1542/pir.2019-0251

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 Chronic Constipation in a 7-year-old Boy
Judy-April Oparaji and Theresa Heifert
Pediatrics in Review 2021;42;S109
DOI: 10.1542/pir.2019-0251

The online version of this article, along with updated information and services, is
located on the World Wide Web at:
http://pedsinreview.aappublications.org/content/42/Supplement_1/S109

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