Sistema Gastrointestinal e Digestivo

Abstrato

An Abdominal Mass in a Child with IgA Deficiency: A Case Report

Maria Barbato, Ilaria Celletti, Chiara Di Camillo, Francesco Valitutti, Stefania Leoni, Vanessa Dionne, Francesca Romana D’Attilia, Alessandra De Grazia2 and Anna Clerico

Introduction: We describe for the first time the case of a one-year old girl admitted to our hospital on the suspicion of an abdominal tumor who finally received the diagnosis of celiac disease and IgA deficiency.

Case presentation: A one-year old girl was admitted to the Pediatric Emergency Care Unit for severe bloating, diarrhea and vomiting for one month; she had been febrile for the last three days. Clinical examination revealed no guarding, a bloated and tender abdomen, and a palpable mass in the umbilical region. Abdominal ultrasonography was then performed, which identified a retroperitoneal mass resembling a tumor; therefore, she was transferred to the Paediatric Oncology Unit for further evaluations. Although deficit of serum IgA delayed the diagnosis, IgG serological markers (anti-deamidated gliadin peptide and anti-transglutaminase antibodies) and duodenal biospy confirmed celiac disease. She was discharged after 23 days on a gluten free diet. The patient was in good health and thriving normally at 12-month follow-up.

Conclusion: Celiac disease can mimic several conditions whose differential diagnoses could be wide. In this case, both IgA deficiency and malnutrition could have led to multiple mesenteric lymphadenopathies, completely regressed once the gluten-free diet was started. If unrecognized, IgA deficiency can jeopardize CD diagnosis since anti-tissue transglutaminase and anti-endomysial antibodies are commonly tested as IgA antibodies. Physicians should always be aware of this association and ascertain IgA serum levels when assessing CD serological markers: if a IgA deficiency is present, demanding for specific IgG serological tests is then mandatory.