Une endoscopie redoutable [A terrible endoscopy].

International audienceNous exposons ici le cas d’un lymphome intra-vasculaire diagnostiqué sur biopsies duodénales réalisées dans le cadre du bilan d’une altération de l’état général et de douleurs épigastriques évoluant depuis 3 mois chez un homme de 77 ans. Cette entité très rare, appartient au sous-groupe des lymphomes B diffus à grandes cellules dans la classification OMS 2008. Il se caractérise par une localisation quasi exclusive des cellules lymphomateuses dans les capillaires et les vaisseaux de petit calibre. Le pronostic de cette hémopathie généralement diagnostiquée post mortem reste de nos jours très péjoratif, notamment du fait du retard diagnostic en lien avec le caractère peu spécifique des symptômes. L’originalité de notre cas tient à son diagnostic précoce réalisé sur biopsies duodénales dans un contexte de douleurs épigastriques sans anomalie endoscopique, révélant une atteinte viscérale disséminée confirmée par TEP scanner et myélogramme. L’atteinte ganglionnaire et l’infiltration médullaire permettent également de discuter le sous-type rarissime dit « asiatique »

Small-bowel video capsule endoscopic findings of Cronkhite-Canada syndrome

International audienceCronkhite-Canada syndrome (CCS) is a rare, non-familial disorder characterized by multiple gastrointestinal polyps and ectodermal changes. This article presents the first small-bowel video sequences of CCS using video capsule endoscopy (VCE)

Endoscopic resection of a rectal gastrointestinal stromal tumor using the submucosal tunneling endoscopic resection (STER) technique

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Submucosal dissection of a large colonic angiodysplasia in case of failure of conventional treatment

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The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

A gain‐of‐function missense variant in the CELA3B gene, p.Arg90Cys (c.268C>T), has recently been reported to cause pancreatitis in an extended pedigree. Herein, we sequenced the CELA3B gene in 644 genetically unexplained French chronic pancreatitis (CP) patients (all unrelated) and 566 controls. No obvious loss‐of‐function variants were identified. None of the six low‐frequency or common missense variants detected showed significant association with CP. Nor did the aggregate rare/very rare missense variants (n = 14) show any significant association with CP. However, p.Arg90Leu (c.269G>T), which was found in four patients but no controls, and affects the same amino acid as p.Arg90Cys, serves to revert p.Arg90 to the human elastase ancestral allele. As p.Arg90Leu has previously been shown to exert a similar functional effect to that of p.Arg90Cys, our findings not only confirm the involvement of CELA3B in the etiology of CP but also pinpoint a new evolutionarily adaptive site in the human genome

NATURAL HISTORY OF PERIANAL CROHN’S DISEASE: LONG-TERM FOLLOW-UP OF A POPULATION-BASED COHORT

International audienceBACKGROUND AND AIMS: The natural history of perianal Crohn’s disease (PCD) remains poorly described and is mainly based on retrospective studies from referral centres. The aim of this study was to assess the incidence, outcomes and predictors of the onset of PCD. METHODS: All incident cases of patients diagnosed with possible CD were prospectively registered from 1994 to 1997 in Brittany, a limited area in France. At diagnosis, the clinical features of perianal disease were recorded. All patient charts were reviewed from the diagnosis to the last clinic visit in 2015. RESULTS: Among the 272 out of 331 incident CD patients followed up, 51 (18.7%) patients had PCD at diagnosis. After a mean follow-up of 12.8 years, 93 (34%) patients developed PCD. The cumulative probabilities of perianal CD occurrence were 22%, 29%, and 32% after 1 year, 5 years, and 10 years, respectively. The cumulative probabilities of anal ulceration were 14%, and 19% after 1 year and 10 years, respectively. Extraintestinal manifestations were associated with the occurrence of anal ulceration. The cumulative probabilities of fistulizing PCD were 11%, 16%, and 19% after 1 year, 5 years, and 10 years, respectively. Extraintestinal manifestations, rectal involvement and anal ulceration were predictors of fistulizing PCD. The cumulative probability of developing anal stricture was 4% after 10 years. CONCLUSIONS: PCD is frequently observed during CD, in approximately one-third of patients. These data underline the need for targeted therapeutic research on primary perianal lesions (proctitis, anal ulceration) to avoid the onset of fistulizing perianal disease