Pediatria e Terapêutica
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Seronegative celiac disease presented with a pronounced abdominal distention in a 4-year-old boy- Case report and review of literature

Virtut Velmishi*, Laurant Kollcaku, Gentiana Cekodhima, Ermira Dervishi, Paskal Cullufe

Celiac disease is a multifactorial, autoimmune disorder that occurs in genetically susceptible individuals. Celiac disease mainly affects the small intestine, where it progressively leads to flattening of the small intestinal mucosa. The seronegative celiac disease includes a small percentage of celiac patients who display villous atrophy but are negative to specific serology. We present a 4-year-old boy who manifested an extreme abdominal distention caused by seronegative celiac disease. This form of celiac disease leads to multiple topics for discussion such as prevalence, sensitivity, and specificity of serological markers, clinical and histological features, differential diagnosis, and difficulties on monitoring and follow up. The diagnosis of seronegative celiac disease requires a careful evaluation of any symptoms because serological tests are worthless in contrast to conventional celiac disease. Genetic testing and mucosal biopsy of the small intestine are indispensable to make a correct diagnosis. A good response to a gluten-free diet is the last benchmark to confirm seronegative celiac disease.