BackgroundAlthough deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in association with immune thrombocytopenic purpura and a transient clinical syndrome mimicking juvenile myelomonocytic leukemia.Case presentationA Japanese boy, who was the first child of non-consanguineous healthy parents, developed bloody diarrhea, perianal fistula, and folliculitis in early infancy and was diagnosed with inflammatory bowel disease. He also developed immune thrombocytopenic purpura and transient features mimicking juvenile myelomonocytic leukemia. The patient failed to respond to various treatments, including elemental diet, salazosulfapyridine, metronidazole, corticosteroid, infliximab, and adalimumab. We identified a novel mutation (c.537G > A, p.T179T) in exon 4 of the IL10RA gene causing unique splicing aberrations and resulting in lack of signaling through the interleukin-10 receptor. At 21 months of age, the patient underwent allogeneic hematopoietic stem cell transplantation and achieved clinical remission.ConclusionsWe describe a novel exonic mutation in the IL10RA gene resulting in infantile-onset inflammatory bowel disease. This mutation might also be involved in his early-onset hematologic disorders. Physicians should be familiar with the clinical phenotype of IL-10 signaling defects in order to enable prompt diagnosis at an early age and referral for allogeneic hematopoietic stem cell transplantation.Electronic supplementary materialThe online version of this article (doi:10.1186/s12876-016-0424-5) contains supplementary material, which is available to authorized users.

To our knowledge, this is the first multicenter study of zinc monotherapy for young children with presymptomatic Wilson disease. Such monotherapy proved highly effective and safe. Maintaining normal transaminase values (or values under 50 U/L when normalization is difficult) and 24-h urinary copper excretion between 1 and 3 μg/kg/day and under 75 μg/day is a reasonable goal. An initial dose of 50 mg/day is appropriate for patients under 6 years old.

few reports describe oxysterols in healthy children or in children with liver disease. We aimed to determine whether developmental changes in urinary and serum oxysterols occur during childhood, and to assess whether oxysterols might be biomarkers for pediatric liver disease. Healthy children enrolled as subjects (36 and 35 for urine and serum analysis, respectively) included neonates, infants, preschoolers, and school-age children, studied along with 14 healthy adults and 8 children with liver disease. We quantitated 7 oxysterols including 4β-, 20(S)-, 22(S)-, 22(R)-, 24(S)-, 25-, and 27-hydroxycholesterol using liquid chromatography/electrospray ionization-tandem mass spectrometry. Urinary total oxysterols were significantly greater in neonates than in infants (P < 0.05), preschoolers (P < 0.001), school-age children (P < 0.001), or adults (P < 0.001), declining with age. Serum total oxysterols in neonates were significantly lower than in infants (P < 0.05), preschoolers (P < 0.001), school-age children (P < 0.05), or adults (P < 0.01). Compared with healthy children, total oxysterols and 24(S)-hydroxycholesterol in liver disease were significantly increased in both urine (P < 0.001 and P < 0.001, respectively) and serum (P < 0.001 and P < 0.05, respectively). Oxysterols in liver disease, particularly 24(S)-hydroxycholesterol, were greater in urine than serum. Oxysterols change developmentally and might serve as a biomarker for pediatric liver disease. to our knowledge, this is the first such report.

Adenomyomatosis of the Gallbladder With Pancreaticobiliary Maljunction in a ChildAn 8-year-old girl referred for recurrent abdominal pain for 1 year had a normal physical examination except mild tenderness in the right hypochondrium and normal laboratory values such as AST/ALT 23/12 U/L, GGT 15 U/L, total bilirubin 0.9 mg/dL, and lipase 11 U/L. Magnetic resonance cholangiopancreatography (MRCP) showed thickening of the gallbladder wall, multiple heterogeneous hyperintense cysts of the gallbladder fundus, and no dilatation of the bile duct (Fig. 1). Endoscopic retrograde cholangiopancreatography showed pancreaticobiliary maljunction (PBM) not previously seen on MRCP (Fig. 2). The length of the common channel was approximately 1 cm outside duodenal wall (Fig. 2). She was diagnosed with adenomyomatosis of the gallbladder (AMG) accompanied by PBM and underwent total resection of the extrahepatic bile duct and Roux-en-Y hepaticojejunostomy. Histopathology showed typical AMG findings and no malignancy. She remained free of abdominal pain at 5 months after surgery.AMG is relatively common in adults ( 1), but we know of only 4 previously reported pediatric cases (2). Once the diagnosis of PBM is established, immediate prophylactic surgery is recommended irrespective of biliary dilatation because biliary cancers are frequent in adults with PBM (3). AMG with PBM has been reported previously in adults (4) but not in children. Tanno et al (4) reported that chronic inflammation and/or increased intraluminal pressure caused by regurgitation of pancreatic juice into the gallbladder may lead to AMG in patients with PBM. MRCP and/or endoscopic retrograde cholangiopancreatography should be performed to ensure prompt diagnosis of PBM.

Background Laboratory data in children with newly diagnosed inflammatory bowel disease (IBD) have been reported from Europe and North America, but not Asia. The aim of this study was to clarify laboratory data in Japanese children with newly diagnosed IBD, and to compare them with those in Western reports. Methods We retrospectively reviewed patients <16 years old, newly diagnosed with ulcerative colitis (UC) or Crohn's disease (CD) at Kurume University Hospital between January 2008 and December 2015. Results UC and CD patients numbered 31 and 15, respectively. The percentages of patients with normal values for hemoglobin (Hb), platelet count (Plt), albumin (Alb), C‐reactive protein (CRP), and erythrocyte sedimentation rate (ESR) in the UC and CD groups were 45% and 47%; 68% and 53%; 84% and 40%; 81% and 7%; and 35% and 0%, respectively. The frequency of normal results for these five tests were similar to Western findings except for the greater frequency of normal CRP in UC. Alb and ESR differed significantly between UC and CD in both mild and moderate–severe cases. Plt, Alb, CRP, and ESR differed significantly between diseases in late‐onset IBD, whereas early onset IBD showed no differences. In UC, ESR correlated positively, while Hb and Alb correlated negatively, with disease activity. In CD, CRP and ESR correlated positively with activity. Conclusions The proportion of Japanese children with IBD having normal values at diagnosis was mostly similar to that in Western reports. In early onset cases, UC parameters may be similar to CD. Of the five tests, ESR was particularly indicative of disease activity at diagnosis in both pediatric UC and CD.