GE: Portuguese Journal of Gastroenterology (Aug 2023)

Small Bowel Villous Atrophy in a Young Patient: A Challenging Diagnosis

  • João Correia,
  • Andreia Freitas,
  • António Marinho,
  • Ana Ponte,
  • Edgar Afecto,
  • Manuela Estevinho

DOI
https://doi.org/10.1159/000531396

Abstract

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Common variable immunodeficiency enteropathy is a sprue-like disease, which may manifest as a severe malabsorption syndrome with nutritional deficits and cachexia. The authors report a case of a 33-year-old Afghan man, who presented to the emergency department due to chronic watery diarrhea and severe malnourishment. He had been previously misdiagnosed with celiac disease in his early adulthood; however, this was based on inconclusive findings. After a thorough diagnostic workup, the final diagnosis of common variable immunodeficiency enteropathy with symptomatic norovirus infection of the gut was obtained during his prolonged hospitalization. A slow but progressive improvement was observed with immunoglobulin replacement therapy, corticotherapy, and ribavirin treatment. This is a noteworthy case of a rare malabsorption disorder, and it reviews important aspects concerning the differential diagnosis of small bowel villous atrophy of unknown etiology, as well as gastrointestinal manifestations of common variable immunodeficiency disorder.

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