A 7-year-old boy who presented with episodes of cyclic vomiting and abdominal pain from age 5. In between the episodes, he feels well. He is of Jewish-Uzbeki descent, the parents are non-consanguineous.
Laboratory results revealed severe hypoalbuminemia with elevated alpha-1-antitrypsin and calprotectin. Esophagogastroduodenoscopy (EGD) and ileo-colonoscopy were normal both macroscopically and microscopically, with no signs of inflammatory bowel disease. EGD after fat loading failed to show evidence of lymphangiectasia. At CT-enterography there were a few enlarged lymph-nodes at the right lower abdomen, without bowel wall enhancement or thickening. Endoscopic video capsule (EVC) revealed a signet picture of inflamed circular small bowel segments.
He was treated with corticosteroids and dietary measures, however, these therapeutic strategies yielded only short lasting clinical and laboratory improvement.
As there was no sustained improvement, we proceeded with genetic testing. Whole-exome-sequencing (WES) was done (at Sick-Kids hospital, Toronto, Canada), and a missense mutation (S199L) on both alleles of the gene coding for CD-55 was found. His parents were found to be heterozygotes.
This discovery tied-up the ends of the clinical, laboratory and imaging findings and presented a novel gene mutation, which should be considered in the work-up of cyclic vomiting and protein losing enteropathy.
