title: IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.
abstract: 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.
  
  
  
  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.
  
  
  
  All the 6 patients presented with typical intractable diarrhea and hair abnormalities. The colon was affected in all of the patients: 1 had ileitis, 2 had panenteritis, and 2 presented with perianal disease. Fecal calprotectin level and erythrosedimentation rate were elevated in 2 cases each. All the therapeutic classes of IBD treatment (mesalazine, steroids, immunomodulators, and biological therapy) were used in the 6 cases. In 2 patients, treatment had no effect. Three showed a partial effect, and 1 patient sustained only a transient effect.
  
  
  
  SD/THE can have a similar presentation as VEOIBD, often as pancolitis. IBD treatments appear to have little efficacy for SD/THE, suggesting a different pathogenesis for the IBD-like features in SD/THE compared with classical IBD.
authors.affiliation: *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.
authors.forename: Veronica B
authors.initials: VB
authors.lastname: Busoni
authors.forename: Julie
authors.initials: J
authors.lastname: Lemale
authors.forename: Beatrice
authors.initials: B
authors.lastname: Dubern
authors.forename: Fernando
authors.initials: F
authors.lastname: Frangi
authors.forename: Patrice
authors.initials: P
authors.lastname: Bourgeois
authors.forename: Marina
authors.initials: M
authors.lastname: Orsi
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
authors.forename: Alexandre
authors.initials: A
authors.lastname: Fabre
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001691:Biological Therapy; D003092:Colitis / Q000209:etiology; D003106:Colon / Q000473:pathology*; D003967:Diarrhea / Q000209:etiology; D003968:Diarrhea, Infantile / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D019066:Facies; D005243:Feces / Q000737:chemistry; D005260:Female; D005317:Fetal Growth Retardation / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D005759:Gastroenteritis / Q000209:etiology*; D006197:Hair; D006201:Hair Diseases / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007079:Ileitis / Q000209:etiology; D007155:Immunologic Factors / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D015212:Inflammatory Bowel Diseases / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology*; D007421:Intestine, Small / Q000473:pathology*; D039841:Leukocyte L1 Antigen Complex / Q000378:metabolism*; D008297:Male; D019804:Mesalamine / Q000627:therapeutic use; D013577:Syndrome
chemical_list: D000893:Anti-Inflammatory Agents; D007155:Immunologic Factors; D039841:Leukocyte L1 Antigen Complex; D019804:Mesalamine