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Celiac disease presents with a variety of symptoms, hindering its clinical diagnosis, a challenge that is aggravated in patients with Down syndrome. An early diagnosis and adherence to the treatment will improve the quality of life of these patients, avoiding nutritional, metabolic and neoplastic complications.Celiac disease has a spectrum of gastrointestinal symptoms, ranging from chronic diarrhea and malabsorption symptoms, to constipation. Its epidemiology varies regionally, and the incidence increases in patients with trisomy 21. Given the non-specific clinical presentation, serological tests are important in the diagnosis of this pathology.A 47 year old male with Down syndrome presents with oneyear history of diffuse abdominal pain, constipation, and clinical malnutrition. Celiac disease is suspected and confirmed with serological tests. Endoscopy and small bowel biopsy supported the diagnosis. A gluten-free diet was instituted, achieving symptomatic improvement.
