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.

Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn’s-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Here we report infantile-onset of inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome type 1 who responded to infliximab. A Japanese boy, the second child of non-consanguineous healthy parents, was born with chalky white skin, silvery-white hair, and gray eyes, representing oculocutaneous albinism. He developed frequent diarrhea and fever accompanied by weight loss at 6 months, and was diagnosed with Crohn’s-like inflammatory bowel disease based on the endoscopic finding of longitudinal ulcerations in the colon and the histopathologic finding of nonspecific chronic inflammation without granulomas at the age of 11 months. Treatment with an elemental diet, salazosulfapyridine, and corticosteroids failed to improve clinical or laboratory abnormalities, and the diarrhea became bloody. At 13 months he began treatment with infliximab, which produced marked improvement followed by clinical remission. Endoscopy at 20 months demonstrated healing of the colonic mucosa. At 22 months he is in sustained clinical remission receiving only infliximab. Because albinism with inflammatory bowel disease suggested Hermansky-Pudlak syndrome, we performed genetic screening using next-generation sequencing in a targeted gene panel analysis for primary immunodeficiency disease and/or inflammatory bowel disease. The patient proved to have a compound heterozygous mutation of the HPS1 gene resulting in Hermansky-Pudlak syndrome type 1. We consider this report to be the first account of type 1 Hermansky-Pudlak syndrome with infantile-onset of inflammatory bowel disease. Early administration of infliximab was effective. We recommend next-generation sequencing for patients with very early-onset inflammatory bowel disease suspected to be monogenic.

Purpose: Laparoscopic Nissen fundoplication (LNF) is the standard surgical treatment for gastroesophageal reflux disease (GERD) in patients with severe motor and intellectual disabilities (SMID). It is necessary to prevent the recurrence of GERD because it poses multiple clinical and surgical challenges for these patients. In Japan, the Endoscopic Surgical Skill Qualification System (ESSQS) has been established to ensure technical competency in laparoscopic surgery for pediatric patients. Our aim was to elucidate the risk factors for recurrence of GERD after LNF in pediatric patients with SMID. Methods: Fifty patients with SMID who underwent LNF with gastrostomy for GERD at our institution between January 2009 and April 2022 were retrospectively investigated. Recurrence rate and risk factors were examined in univariate and multivariate analyses. Results: GERD recurred in 5 of the 50 patients (10.0%). In univariate analysis, operation time was significantly longer in the recurrence group than in the non‐recurrence group (333 vs. 254 min, p = 0.01). No operations in the recurrence group were performed by an ESSQS‐qualified surgeon ( p = 0.28). In multivariate analysis, operation time was an independent risk factor for recurrence. Conclusion: Operation time was identified as a risk factor for recurrence of GERD after LNF in patients with SMID. Evidence: II.

Afferent loop obstruction (ALO) is a rare complication of Kasai portoenterostomy (KPE) for biliary atresia. A 23-year-old Japanese woman who had undergone KPE with Roux-en-Y reconstruction for biliary atresia at age 42 days experienced intermittent abdominal pain during pregnancy. From computed tomography findings, she was diagnosed with ALO of the Roux-en-Y limb due to obstruction at the jejunojejunostomy. At 22 weeks of gestation, we inserted an endoscopic nasobiliary drainage (ENBD) tube into the dilated Roux-en-Y limb during double-balloon small-bowel endoscopy for treatment of the ALO. As no findings of jejunojejunostomy obstruction were evident during the endoscopy, we consider the obstruction was caused by flexion of the jejunojejunostomy associated with pregnancy. The ENBD tube afforded good drainage, and decompression of the Roux-en-Y limb was confirmed. We waited until 28 weeks of gestation to remove the ENBD tube, considering both the durability of ENBD tube and continued safety of the fetus. At 39 weeks of gestation, the patient delivered of a live baby boy (2,864 g) via vaginal delivery. ENBD tube insertion could be a minimally invasive option for treating ALO during pregnancy after KPE with Roux-en-Y reconstruction.