Pediatrics
A 2-year-old boy presents with poor growth, abdominal distension and diarrhoea.
On examina7on, he is at the 5th percen7le on the growth chart. He looks pale, has abdominal distension, and was7ng of the bu]ocks. Which of the following is the most appropriate inves7ga7on?
Explanation
1. Core Concept: The clinical picture of failure to thrive (poor growth), chronic diarrhea, abdominal distension, and prominent muscle wasting (e.g., buttocks) after the introduction of solid foods is classic for Celiac disease, an autoimmune condition triggered by gluten ingestion.
2. Clinical Presentation:
- Malabsorption symptoms: chronic diarrhea, steatorrhea, and severe abdominal distension.
- Growth failure, weight loss, and failure to thrive.
- Nutritional deficiencies leading to pallor (anemia) and muscle wasting.
3. Diagnosis:
- First-line: Serologic testing, particularly Tissue Transglutaminase IgA (tTG-IgA) and Anti-endomysial antibodies (EMA). Note: Total IgA must be drawn simultaneously to rule out selective IgA deficiency.
- Gold Standard: Upper GI endoscopy with duodenal biopsy revealing villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis.
4. Management:
- Acute: Replenish nutritional deficiencies (iron, vitamin D, calcium).
- Long-term/Definitive: Strict, lifelong adherence to a gluten-free diet (avoiding wheat, barley, and rye) leading to complete mucosal healing and symptom resolution.