Recurrent Abdominal Pain, Vomiting, Velvet-Like Changes in the Small Intestine in a Patient with Multiple Acyl-CoA dehydrogenation Deficiency

Abstract BackgroundMultiple acyl-CoA dehydrogenation deficiency (MADD) is an inborn error of metabolism in fatty acid oxidation. We described an unusual case of recurrent vomiting and abdominal pain in a child with MADD, presenting with velvet-like changes in the small intestine. MethodsBecause of prominent gastrointestinal manifestations and small intestine ulcers, the patient was first diagnosed as Crohn’s disease. The patient was admitted to our institution because of recurrent symptoms despite treatment. Upper and lower endoscopy, computed tomography and trios exome sequencing were performed. ResultsThis patient underwent a repeated video endoscopy, which showed velvet-like changes in the small intestine rather than ulcers. Liver steatosis was identified by computed tomography. Serum tandem mass spectrometry showed elevated C8 and C10. Trios exome sequencing revealed compound heterozygous variants of c.250G>A, 524G>A in ETFDH. The diagnosis of multiple acyl-CoA dehydrogenation deficiency was made. Patient responded to oral riboflavin treatment. ConclusionWith this case, we aimed to highlight the importance of tandem mass spectrometry and genetic sequencing, especially when the endoscopic findings are not pathognomonic in pediatric cases with recurrent gastrointestinal complaints. We confirmed the diagnosis with next generation sequencing, and described unusual findings of velvet-like changes mimicking ulcers in the small intestine in this patient with MADD.