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Published on: September 22, 2019
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome
Veronica B Busoni1, Julie Lemale, Beatrice Dubern
1*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.
Background:
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.
Results:
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.
Conclusions:
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.
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