Omental torsion is a rare cause of acute abdominal pain. We report a case of omental torsion in a 7-year-old girl, who presented with right iliac fossa pain. The patient underwent an open appendicectomy, during which a normal appendix was identified and a diagnosis of omental torsion was made. The affected segment of omentum was resected along with the appendix. The patient made an uncomplicated recovery and was discharged on day 1 postoperatively. A normal appendix in the presence of omental torsion is found in 0.1% of all appendicectomies in children. We suggest routine visualisation of the omentum in the presence of a normal appendix during appendicectomy.

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Being a rapid diagnostic tool for CNDI, direct sequencing of AVPR2 should be encouraged in newborns with familial predisposition to CNDI. What is Known: • Disease-causing variants in AVPR2 cause X-linked congenital nephrogenic diabetes insipidus (CNDI). • DNA sequencing of AVPR2 is rapid, facilitates differential diagnosis, early intervention, and genetic diagnosis thus reducing morbidity in CNDI. What is New: • We identified eight novel disease-causing variants in AVPR2: p.Arg68Alafs*124, p.Ser171Arg, p.Gln174Pro, p.Trp200Arg, p.Gly201Cys, p.Gly220Arg, p.Val226Glu, and p.Gln291Pro, thereby adding to the growing list of AVPR2 disease-causing variants and emphasizing the importance of genetic testing in CNDI.

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