{Reference Type}: Case Reports
{Title}: Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys-Dietz Syndrome Child.
{Author}: Opréa A;Collardeau-Frachon S;Heissat S;Peretti N;Lachaux A;Duclaux-Loras R;
{Journal}: JPGN Rep
{Volume}: 3
{Issue}: 1
{Year}: 2022 Feb
暂无{DOI}: 10.1097/PG9.0000000000000139
{Abstract}: 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).