Clinical Scenario:
A 10-year-old boy is brought to the pediatric gastroenterology clinic with a 3-year history of chronic constipation. He passes hard stools every 4–5 days and has been receiving regular laxatives with only partial improvement. There is no history of chronic diarrhea, blood in stools, abdominal pain, fever, nocturnal symptoms, or perianal discharge. On examination, his height is below the 3rd percentile and weight is at the 10th percentile. He appears pale and has grade II digital clubbing. There are no perianal abnormalities. Laboratory investigations reveal:
- Hemoglobin: 9.8 g/dL
- MCV: 70 fL
- Serum ferritin: Low
- ESR: Normal
- CRP: Normal
Which of the following is the most likely diagnosis?
A. Celiac disease
B. Crohn disease
C. Functional constipation
D. Hirschsprung disease
E. Hypothyroidism
Correct answer & Explanation:
Correct Answer: A. Celiac disease
Discussion: Atypical celiac disease
This child has chronic constipation, but several alarm features suggest an organic etiology:
- Short stature
- Iron deficiency anemia
- Digital clubbing
- Poor response to conventional constipation treatment
Although diarrhea is the classic manifestation of celiac disease, many older children present with non-classical disease, including:
- Chronic constipation
- Short stature
- Iron deficiency anemia
- Delayed puberty
- Isolated growth failure
The presence of clubbing may initially raise concern for Crohn disease, but the absence of diarrhea, abdominal pain, weight loss, perianal disease, and elevated inflammatory markers makes inflammatory bowel disease less likely.
The combination of constipation, growth failure, iron deficiency anemia, and clubbing should prompt testing for celiac disease with anti-tTG IgA and total IgA levels.
Why the Other Options Are Incorrect
B. Crohn disease
- Clubbing may occur, but Crohn disease typically presents with chronic diarrhea, abdominal pain, weight loss, elevated inflammatory markers, or perianal disease.
C. Functional constipation
- Does not explain short stature, iron deficiency anemia, or clubbing.
D. Hirschsprung disease
- Usually presents in infancy with delayed passage of meconium and longstanding severe constipation from birth.
E. Hypothyroidism
- Can cause constipation and growth failure, but iron deficiency anemia and clubbing are not typical features.
Key Learning Point
In a child with treatment-resistant constipation, the presence of short stature, iron deficiency anemia, or clubbing should prompt evaluation for celiac disease, even in the absence of diarrhea. Non-classical celiac disease is increasingly recognized in school-aged children and adolescents.
