Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Jan;10(1):183-187.
doi: 10.21037/tp-20-253.

Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report

Ziqing Ye  1 , Jieru Shi  1 , Xiaolan Lu  1 , Yingying Meng  1 , Wei Lu  2 , Bingbing Wu  3 , Ying Huang  1
Affiliations
Case Reports

Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report

Ziqing Ye et al. Transl Pediatr. 2021 Jan.

Abstract

Multiple acyl-CoA dehydrogenase 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. Because 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. This 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>T in ETFDH. The diagnosis of MADD was made. Patient responded to oral riboflavin treatment. With 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.

Keywords: ETFDH genes; Multiple acyl-CoA dehydrogenase deficiency (MADD); case report; exome sequencing.

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tp.amegroups.com/article/view/59989/coif). The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Findings of video capsule endoscopy. Diffuse velvet-like changes are present in multiple segments of the small intestine. There is no apparent ulceration or erosion.
Figure 2
Figure 2
Abdominal computerized tomography scan without contrast. There is hepatic lipomatosis and the liver is not enlarged, and there is no splenomegaly. The computerized tomography value of the liver is lower than that of the spleen.
Figure 3
Figure 3
Sanger sequencing of ETFDH confirmed mutations in our patient. (A) Patient: ETFDH c.250G>A, c.524G>T; (B) father of the patient: ETFDH c.250G>A; (C) mother of the patient: ETFDH c.524G>T.
Figure 4
Figure 4
The timeline of this case, including clinical manifestations, tests and treatments. CT, computed tomography; MADD, multiple acyl-CoA dehydrogenase deficiency.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. van Rijt WJ, Jager EA, Allersma DP, et al. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genet Med 2020;22:908-16. 10.1038/s41436-019-0739-z - DOI - PMC - PubMed
    1. Wang ZQ, Chen XJ, Murong SX, et al. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A. J Mol Med (Berl) 2011;89:569-76. 10.1007/s00109-011-0725-7 - DOI - PubMed
    1. Yang L, Kong Y, Dong X, et al. Clinical and genetic spectrum of a large cohort of children with epilepsy in China. Genet Med 2019;21:564-71. 10.1038/s41436-018-0091-8 - DOI - PMC - PubMed
    1. Olsen RK, Andresen BS, Christensen E, et al. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 2003;22:12-23. 10.1002/humu.10226 - DOI - PubMed
    1. Xu J, Li D, Lv J, et al. ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency. Ann Neurol 2018;84:659-73. 10.1002/ana.25338 - DOI - PubMed

Publication types

LinkOut - more resources