Open AccessTherapeutic Approach of Very Early‐Onset Inflammatory Bowel Disease in a Loeys–Dietz Syndrome Child
Author(s) -
Opréa Alina,
CollardeauFrachon Sophie,
Heissat Sophie,
Peretti Noel,
Lachaux Alain,
DuclauxLoras Rémi
Publication year - 2022
Publication title -
jpgn reports
Language(s) - English
Resource type - Journals
ISSN - 2691-171X
DOI - 10.1097/pg9.0000000000000139
Subject(s) - medicine , missense mutation , inflammatory bowel disease , ustekinumab , disease , sanger sequencing , gastroenterology , infliximab , mutation , genetics , gene , biology
Heterozygous TGFBR2 loss‐of‐function mutation is an extremely rare cause of very‐early onset inflammatory bowel disease (VEOIBD) as, so far, only three cases have been reported in the literature. VEOIBD therapeutic management remains a real challenge for clinicians. Here, we described an interesting new case of Loeys–Dietz syndrome presenting severe, very early intestinal inflammation associated with dysmorphic features, aortic arch tortuosity joint hyper laxity and severe scoliosis. TGFBR2 Sanger sequencing revealed a missense mutation c.1583G>A (p.Arg528His). As endoscopy confirmed a severe colitis, we chose a classical IBD therapeutic approach. We finally obtained remission under Ustekinumab (90 mg/6 weeks).