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Introduction: The incidence of early-onset inflammatory bowel disease is increasing in Japan. Objective: This study aimed to analyze the treatment and progress of early-onset inflammatory bowel disease. Methods: This prospective survey evaluated the data of 43 patients aged <8 years who were diagnosed with inflammatory bowel disease (IBD) from the time of diagnosis to 36 months after registration. Results: A total of 12 patients with Crohn's disease (CD), 21 with ulcerative colitis (UC), and 3 with unclassified IBD were enrolled. The mean disease onset age was 3 years and 7 months. Colon and anal lesions were present in 100 and 50% of patients with CD, respectively. Granulomas were detected in 5 patients (41.7%). Dietary elimination including elemental diet was performed in all patients. Eleven patients (91.7%) were in remission by initial induction therapy, and 72.7% maintained remission for 36 months. Three patients (14.3%) with UC had familial history, 71.4% had pancolitis-type UC, and 66.7% exhibited disease of moderate severity. Colectomy was performed in 4 patients (21.1%). Eighteen patients (85.7%) were in remission by initial induction therapy; however, only 15.8% maintained remission for 36 months. Anal complication was more prevalent in infantile-onset IBD than in childhood-onset IBD (p = 0.014). Conclusions: Among Japanese patients aged <8 years who were diagnosed with IBD, colitis-type disease was more common in CD and pancolitis was more common in UC. As the courses of several patients were severe, identifying primary immunodeficiency appears to be necessary to confirm background disease. [ABSTRACT FROM AUTHOR]

Background It is important to assess pediatric patients for nutritional deficiency when they are receiving specific interventions, such as enteral feeding. We focused on measurement of C0 and 3-hydroxyisovalerylcarnitine (C5- OH) with tandem mass spectrometry ( MS/ MS), which is performed as part of the newborn mass screening. The purpose of this study was to investigate the usefulness of MS/ MS for screening carnitine and biotin deficiencies. Methods Forty-two children (24 boys, 18 girls) were enrolled between December 2013 and December 2015. Blood tests, including measurement of serum free carnitine via the enzyme cycling method, and acylcarnitine analysis on MS/ MS of dried blood spot ( DBS), were performed for the evaluation of nutrition status. Results Median patient age was 2 years (range, 2 months-14 years). Mean serum free carnitine was 41.8 ± 19.2 μmol/L. In six of the 42 patients, serum free carnitine was <20 μmol/L (range, 4.0-18.7 μmol/L). C0 and C5- OH measured on MS/ MS of DBS were 33.8 ± 20.2 nmol/ mL and 0.48 ± 0.22 nmol/ mL, respectively. There was a strong positive correlation ( r = 0.89, P < 0.001) between serum free carnitine and C0 measured on the same day. In one patient on hydrolyzed formula, C5- OH was >1.00 nmol/L. Therapy-resistant eczema was improved by treatment with additional biotin and a non-hydrolyzed formula. Conclusion C0 and C5- OH, measured on MS/ MS of DBS, were useful for screening carnitine and biotin deficiencies. [ABSTRACT FROM AUTHOR]

We report a case of a 15-year-old girl with severe aplastic anemia who underwent orthotopic liver transplantation 5 years ago for fulminant hepatic failure during the course of immunodeficiency of unknown etiology. She previously exhibited similar immunodeficiency and experienced recurrent viral infections. She developed jaundice at 9 years of age and was diagnosed with fulminant hepatitis. One month later, she underwent living donor liver transplantation, with the donor being her father. Five years after the liver transplant, pancytopenia was noted; she did not respond to treatment with increasing doses of tacrolimus/prednisone and administration of granulocyte-colony stimulating factor. Bone marrow biopsy was performed, and severe aplastic anemia was diagnosed. Six years after the liver transplant, she underwent bone marrow transplantation (BMT), with the donor being her HLA-matched sibling. However, she developed liver dysfunction with recovery of white blood cells. She developed sepsis, which eventually led to her death on day 30 after BMT.

A 6-month-old boy was diagnosed as having Crohn's disease (CD) by the endoscopic examination. Primary immunodeficiency syndrome was initially suspected due to a refractory infection that occurred just after birth and a family history that his older brother died at the age of 3 months of septicemia associated with perirectal abscess. Thalidomide was used because conventional medical treatment by steroids and immunosuppressives was ineffective. Thalidomide improved the symptoms of diarrhea, abdominal pain, high fever and fistula, and the PCDAI score decreased markedly from 45 to 15. Although thalidomide was discontinued after three months because of the onset of side effects, including edema, rash and the peripheral neuropathy, the effect on the fistula closure was maintained over a long period of time. Further studies will be necessary to determine the dosage of thalidomide that does not elicit side effects, but thalidomide seems to be effective in patients with refractory CD. Infantile CD is very rare and the diagnosis is often delayed. CD is generally resistant to medical treatment. More detailed information of infantile CD will be needed to elucidate the pathogenesis of this disease and progress of treatment. Recently the incidence of inflammatory bowel diseases has increased. CD should be suspected in any infant with the perianal lesion (fissures, fistula, skin tag and abscesses) especially when prolonged gastrointestinal symptoms, stomatitis or fever coexist.