AB026. SOH25_AB_327. The management of a closed loop bowel obstruction in a paediatric patient with Bohring Opitz syndrome: a case report

Background: Bohring Opitz syndrome is a rare congenital disorder characterized by distinctive facial features, postural positioning, developmental delay, feeding issues and learning disabilities. The condition is inherited in an autosomal dominant manner due to a de novo pathogenic variant in ASXL1. The ASXL1 gene provides instructions for making a protein that is involved in a process known as chromatin remodelling, which can alter how tightly DNA is packed. ASXL1 regulates the expression of many genes, including HOX genes, which play important role in development before birth. ASXL1 can turn on or turn off HOX genes as required.

Methods: This case report outlines the surgical management and unique intra-operative findings in a 9-year-old male patient with Bohring Opitz syndrome, who presented to emergency department (ED) with a closed loop bowel obstruction. Emergency laparotomy for partial colectomy with ilio-colic anastomosis was completed. The entire colon was reduced from the abdominal cavity demonstrating a colonic volvulus around the middle colic vessels with necrosis of the proximal two thirds. The unusual finding was that there was absolutely no peritoneal fixation of the colon, thus the descending colon was fixed to the lateral abdominal wall to prevent recurrent rotation and subsequent volvulus.

Results: The patient made a complete and full recovery from the procedure.

Conclusions: The case report highlights firstly, the critical importance of both early recognition and of timely surgical intervention in closed loop bowel obstructions in patients with rare genetic disorders. Secondly, the need for further research into a potential link between colonic non fixation and feeding issues in patients with Bohring Opitz syndrome.

Keywords: ASXL1 gene; Bohring Opitz syndrome; closed loop bowel obstruction; colonic non fixation; peritoneal fixation of colon