Concomitant Ulcerative Colitis and Neurofibromatosis type 1: possible common origin?

Abstract

In the last 15 years, 3 cases of concurrent Ulcerative Colitis with Neurofibromatosis Type 1 have been described in adults and adolescents, but not in children; although it may be a casual finding, a common pathogenic pathway between both diseases is postulated, based on mast cell dysregulation in the gastrointestinal tract.

Objective: To report the clinical case of a toddler with onset of concomitant Ulcerative Colitis with CMV infection, with history of Neurofibromatosis Type 1, and to discuss the common origin between both diseases.

Clinical Case: We describe the case of a 2-and-a-half-year-old toddler with history of Neurofibromatosis Type 1 who presented with bloody diarrhea. On endoscopic examination, the mucosa from the anal margin to the cecum was erythematous, with loss of vascular transparency. Biopsies of colonic mucosa showed signs of chronic inflammation, consistent with the diagnosis of Ulcerative Colitis, and CMV infection was diagnosed by PCR.

Conclusion: Previous studies have suggested that mast cells may have a pathogenic role in the development of UC, however, the clinical significance of these findings is unknown. Future research is needed to further investigate the role of mast cells in the development of UC and to confirm a genetic association between the two diseases.