ABSTRACT
We performed a Japanese nationwide survey of pediatric-onset chronic nonspecific multiple ulcers of the small intestine between January 2000 and July 2013 in 176 institutions of pediatric surgery or pediatric gastroenterology and clarified the clinical features associated with genetic abnormalities in the Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) gene. A total of 4 cases (3 girls and 1 boy) were diagnosed in this series, which had to be differentiated from Crohn disease, Behçet disease, tuberculosis, or drug-induced enteropathy. Clinical symptoms appeared in infants and accurate diagnosis required several years. Medical therapies for inflammatory bowel disease were administered in all patients; however, 2 of the 4 patients had mutation in the SLCO2A1 gene which are responsible for primary hypertrophic osteoarthopathy, and underwent strictureplasty or ileal resection after long-term follow-up. Pediatric gastroenterologists should include this new entity in the differential diagnosis of small intestinal ulcers and inflammatory bowel disease.
Subject(s)
Intestinal Diseases/diagnosis , Intestine, Small , Mutation , Organic Anion Transporters/genetics , Ulcer/diagnosis , Adolescent , Child , Child, Preschool , Chronic Disease , Diagnosis, Differential , Female , Follow-Up Studies , Genetic Markers , Health Surveys , Humans , Infant , Intestinal Diseases/genetics , Intestinal Diseases/therapy , Japan , Male , Ulcer/genetics , Ulcer/therapyABSTRACT
We present the youngest patient reported to date with chronic nonspecific multiple ulcers of the small intestine (CNSU) diagnosed by double-balloon endoscopy (DBE). A 3-year-old girl was referred to our department with a 2-year history of iron-deficiency anemia. Failure to thrive and hypoproteinemia were also noted, and stool occult blood tests had been persistently positive. However, the C-reactive protein level and erythrocyte sedimentation rate were not elevated. Esophagogastroduodenoscopy and double-contrast enema revealed no abnormality in the colon and terminal ileum. Retrograde DBE was performed when the patient was 4 years old. Linear ulcerations arranged in an oblique or circular pattern were present at 3 sites between 55 and 65 cm from the ileocecal valve. Microscopic examination showed nonspecific inflammatory changes, and no granuloma was present. Based on the clinical and endoscopic findings, the patient was diagnosed as having CNSU. The youngest previously reported patient with CNSU was 7 years old, whereas our present patient was diagnosed at the age of 4 years. In pediatric cases of obscure gastrointestinal bleeding, it may be necessary to be aware of small bowel disease.
