J Pediatr Gastroenterol Nutr 2017 Jan;64(1):37-41
*Pediatric Gastroenterology, Hepatology, and Liver Intestinal Transplantation Unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina †Nutrition et Gastroentérologie Pédiatriques, Hôpital Armand-Trousseau ‡UMR_S U1166 Nutriomics, UPMC, Sorbonne University, Paris, France §Pediatric Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina ||Département de Génétique Médicale, Hôpital de la Timone Enfant ¶UMR_S 910, Aix-Marseille Université #Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone Enfant, Assistance Publique des Hôpitaux de Marseille, Marseille, France.
: Very early onset inflammatory bowel disease (VEOIBD) (inflammatory bowel disease [IBD] before 6 years of age) may manifest as a monogenic disease affecting the gastrointestinal tract. Syndromic diarrhea/trichohepatoenteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation.Methods
: We reviewed clinical and biological data of 4 previously published cases and added detailed data of 2 new cases of SD/THE with an IBD-like presentation. Read More