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
Explanation
This child most likely has celiac disease presenting with an atypical gastrointestinal phenotype. Although diarrhea and abdominal distension are classic manifestations, children with celiac disease may present without diarrhea.
The important clues in this case are chronic constipation that has not responded to usual treatment, short stature, and iron-deficiency anemia. These are recognized presentations in which celiac disease should be considered, even in the absence of typical gastrointestinal symptoms.
Short stature may result from chronic intestinal inflammation and impaired nutrient absorption. Iron-deficiency anemia, particularly when persistent or unexplained, is another important extraintestinal manifestation of celiac disease and may occur even without diarrhea.
Digital clubbing is not a typical or specific feature of celiac disease. It has been reported occasionally in children with celiac disease, but it should not be used as a major diagnostic clue. Clubbing should also prompt consideration of other gastrointestinal, pulmonary, and cardiac disorders.
Why not inflammatory bowel disease?
Crohn disease can cause growth failure, anemia, and digital clubbing, but this child lacks several features that would make inflammatory bowel disease more strongly supported, such as chronic diarrhea, abdominal pain, weight loss, perianal disease, or other evidence of intestinal inflammation. However, their absence does not completely exclude Crohn disease.
The combination of treatment-resistant constipation, short stature, and iron-deficiency anemia is sufficient to warrant testing for celiac disease.
Diagnostic approach
The recommended initial serological evaluation in a child with suspected celiac disease is:
- IgA anti-tissue transglutaminase (tTG-IgA)
- Total serum IgA
Total IgA should be measured because selective IgA deficiency can result in a falsely negative IgA-based test. If IgA deficiency is present, an IgG-based serological test should be used.
High-Yield Exam Pearl
Treatment-resistant constipation + short stature + iron-deficiency anemia → consider celiac disease, even without diarrhea.
Reference
Husby S, Koletzko S, Korponay-Szabó IR, Kurppa K, Mearin ML, Ribes-Koninckx C, et al. European Society Paediatric Gastroenterology, Hepatology and Nutrition guidelines for diagnosing coeliac disease 2020. J Pediatr Gastroenterol Nutr. 2020;70(1):141-156.
You can also practice another MCQ on Acute Watery Diarrhea.
