Abstract
We report the case of twins diagnosed with chronic enteropathy associated with the SLCO2A1 gene (CEAS) based on characteristic ulcer findings, which required 8 years to diagnose. Both twins had similar symptoms, including anemia and growth failure but the gastrointestinal tract was not evaluated initially because of mild symptoms that were considered consistent with psychological etiology. The endoscopic findings of the firstborn child showed spiral ulcer scars and pseudodiverticulum formation without Helicobacter pylori infection or eosinophilic infiltration in the duodenum. Since the twins presented with ulcers of an unknown cause simultaneously and the first-born child had a spiral ulcer, CEAS was suspected. Genetic analysis and high levels of prostaglandin E major urinary metabolites in the urine led to a definitive diagnosis of CEAS.
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Abbreviations
- CEAS:
-
Chronic enteropathy associated with the SLCO2A1 gene
- DD:
-
Dichorionic diamniotic
- INM:
-
Islands of normal mucosa
- PGE-MUM:
-
Prostaglandin E major urinary metabolite
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Acknowledgements
The authors greatly appreciate Dr. Mikiko Koizumi for referring the patient to our hospital. The authors greatly appreciate Dr. Shunichi Yanai for immunostaining SLCO2A1 in biopsy tissues.
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Saura, R., Hagiwara, Si., Hizuka, K. et al. First case report of dichorionic diamniotic twins with chronic enteropathy associated with the SLCO2A1 gene. Clin J Gastroenterol 17, 240–243 (2024). https://doi.org/10.1007/s12328-023-01912-9
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DOI: https://doi.org/10.1007/s12328-023-01912-9