Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report
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CASE REPORT
Open Access
Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report Youhong Fang1, Weizhong Gu2, Youyou Luo1 and Jie Chen1*
Abstract Background: SLCO2A1 was recently reported to cause nonspecific ulcers at small bowel, it was named as chronic enteropathy associated with SLCO2A1 (CEAS). It was rarely reported beyond the Japanese population. Case presentation: A 4-year-5-month old girl presented with intractable anemia since 1-year-3-month. Her stool occult blood test was positive and the result of esophagogastroduodenoscopy and colonoscopy were normal. She was considered as obscure gastrointestinal bleeding. The magnetic resonance enterography and ultrasound of small intestinal revealed segmental thickening of small bowel. The capsule endoscopy detected ulcers, erosion and slightly stenosis near the site of junction of jejunum and ileum. She was considered chronic non-specific multiple ulcers of the small intestine and was advised to have whole exon sequencing. She was treated with exclusive enteral nutrition and iron supplement for two months. However, she was not responsive to this treatment, then she had three doses of infliximab. At the same time, the next-generation sequencing of this patient revealed two novel compound heterozygous mutations in SLCO2A1. She was diagnosed with CEAS and was treated with oral mercaptopurine. Her hemoglobin level was stable and the serum albumin level was slightly decreased during the follow up. Conclusion: CEAS may present as nonspecific small bowel ulcers, and misinterpret as small bowel Crohn’s disease. Genetic tests may help with the precise diagnosis of small bowel ulcers. Keyword: Anemia, SLCO2A1, CEAS, Obscure gastrointestinal bleeding, Small bowel ulcer
Background Obscure gastrointestinal bleeding is defined as bleeding of unknown origin that persists or recurs, after negative initial evaluation using upper and lower endoscopy and radiologic small bowel imaging [1]. The etiology of OGIB including inflammation, small vascular malformations, and polyps et al. Recently, a new gene SLCO2A1 encodes a prostaglandin transporter was reported to cause small bowel nonspecific ulcers and sometimes cause stricture of small bowel which named as chronic * Correspondence: [email protected] 1 Department of Gastroenterology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Bin Sheng RoadZhejiang Province, Hangzhou 310052, China Full list of author information is available at the end of the article
enteropathy associated with SLCO2A1 (CEAS). The main presentation of CEAS reported was anemia. To date, most of the cases reported about this disease were from Japanese population. Here we report a case of Chinese young girl who presented with chronic anemia due to OGIB and finally diagnosed as CEAS.
Case presentation A 4-year-5-month old girl was referred to our ward with complaint of anemia for more than three years. She was detected iron deficiency anemi
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