Gallstones are uncommon in infants and children and Asian children are thought to have very low risk. Diagnoses have increased in recent years with the widespread use of ultrasonography (USG). This study aimed to review our experience with risk factors, complications, and treatment of pediatric gallstones in low-incidence populations. We retrospectively reviewed patients younger than 18 years old diagnosed with gallstones using USG between November 2006 and December 2012 in a tertiary referral hospital in Taiwan. Demographic information including age and sex, follow-up period, USG findings, predisposing factors, complications, treatment approaches and outcomes were recorded. Ninety-eight children with gallstones diagnosed with USG were enrolled and reviewed in our study. Females comprised 55% of patients, with no specific gender tendency. No risk factor could be identified in 30.8% of patients. The most common risk factors were cephalosporin (CS) use, presence of a choledochal cyst (CC), and spherocytosis. CS use was not associated with a higher dissolution rate. The presence of type IVa CC implied a high rate of gallstone recurrence after Roux-en-Y hepaticojejunostomy. Complications were seen in 22.4% of patients, but only two needed emergency stone removal. Expectant management was performed in 61% of patients and 62.5% of them achieved spontaneous resolution; the stone dissolution rate was not lower than in the group treated with ursodeoxycholic acid (UDCA). Stone size was significantly decreased after UDCA use if resolution did not occur. Pediatric gallstones showed high resolution rate, and the clinical course was largely benign. CS use was the most common risk factor and did not predict a higher dissolution rate. Type IVa CC was also an important risk factor associated with a high recurrence rate. Conservative treatment and oral UDCA may be reasonable strategies in most patients, unless complications are present.

Refractory anemia is not uncommon in pediatric patients, and anemia caused by gastrointestinal tract bleeding should always be kept in mind. Aside from infection or intestinal malrotation related bleeding, vascular malformation should also be considered. Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multiple venous malformations. Lack of experience in pediatric BRBNS might lead to delayed diagnosis or misdiagnosis. Herein, we report a case of an eleven-year-old boy with recurrent pallor appearance and weakness diagnosed with BRBNS. After a thorough examination, he was treated with endoscopic polypectomy, and further iron supplements and folic acid. He is now under regular follow-up at our outpatient department. No complication is noted for six months. BRBNS is a rare venous malformation syndrome that mostly involves skin and the gastrointestinal tract. Multidisciplinary approach should be arranged for diagnosis and management. Up to date, no consensus for BRBNS treatment has been reached. Management usually depends on clinical symptoms and severity of damage of involved organs. The options of treatment include conservative, medical, endoscopic, and surgical management.

Rationale: Extraosseous Ewing’s sarcoma is a rare tumor which is aggressive with poor prognosis; it can occur anywhere in the body, but scantily in the pancreas. Pancreatic Ewing’s sarcoma is not reported commonly, with inconsistent clinical manifestations. In this regard, early recognition of this disease is very important for the patient’s sake. Patient concerns: A 16-year-old boy presented with left lower quadrant abdominal pain for 2 months, and left flank pain with dysuria for 1 month. Diagnosis: Abdominal and renal ultrasonography found a mass between the spleen and left kidney as well as left renal pelvic dilatation. Abdominal computed tomography found a heterogenous mass derived from the tail of the pancreas. Serial examinations revealed that the mass was a pancreatic Ewing’s sarcoma. Furthermore, no metastasis was documented. Interventions: The tumor was totally excised after 6 months of chemotherapy, which included 10 courses of neoadjuvant chemotherapy with vincristine, epirubicin, and cyclophosphamide, alternating with ifosfamide and etoposide. The patient completed consolidation chemotherapy with vincristine, epirubicin, and cyclophosphamide, alternating with ifosfamide and etoposide for 5 courses. Radiotherapy was applied to the tumor-involved region and tumor bed. Outcomes: To date, the malignancy has not recurred since the treatment was completed 4 years ago. There are no complications from the treatment for the patient. Lessons: The pancreas is a very rare extraosseous location for Ewing’s sarcoma. Pancreatic extraosseous Ewing’s sarcoma should be regarded as a differential diagnosis of non-urinary originated left flank pain with dysuria in adolescents.

Background: Vitamin D contributes to intestinal barrier integrity and innate immune regulation, but its role in susceptibility to Salmonella infection and systemic inflammation in hospitalized pediatric patients with acute gastroenteritis (AGE) remains unclear. Methods: We retrospectively analyzed 70 pediatric patients hospitalized with AGE, examining the associations of admission 25(OH)D levels with culture-confirmed Salmonella infection and C-reactive protein (CRP). Multivariable logistic and linear regression models were adjusted for age and sex. Vitamin D status was classified as sufficient (≥30 ng/mL), suboptimal (<30 ng/mL), or deficient (<20 ng/mL). Results: The median age of the 70 included patients was 3.0 years (IQR: 1.5–6.0, range: 1.0–17 years), and 55.7% were male. Suboptimal vitamin D status was present in 64.3% of patients and was associated with higher median CRP levels (3.84 vs. 1.42 mg/dL, p = 0.025) and a greater prevalence of Salmonella infection (48.9% vs. 24.0%, p = 0.047). In multivariable analysis, suboptimal 25(OH)D levels independently marginally predicted an increased odds of Salmonella infection (adjusted odds ratio 3.11, 95% CI 1.00–9.67; p = 0.051). Serum 25(OH)D levels were inversely associated with natural log-transformed CRP (p = 0.026), with each 1 ng/mL increase corresponding to an estimated 5% reduction in CRP. Furthermore, vitamin D deficiency (<20 ng/mL) was associated with a 3.5-fold increase in CRP compared to levels ≥ 20 ng/mL (p = 0.012). Conclusions: Suboptimal vitamin D status (<30 ng/mL) may be associated with increased susceptibility to Salmonella gastroenteritis, while deficiency (<20 ng/mL) correlates with exacerbated inflammatory burden in hospitalized pediatric patients. These findings suggest a threshold-dependent effect of vitamin D on both mucosal defense and systemic inflammation. Prospective trials are warranted to evaluate the therapeutic potential of vitamin D supplementation in this population.

Background: Maternal vitamin D deficiency (VDD) compromises fetal skeletal development. The impact of postnatal vitamin D supplementation on osteocalcin (OC) carboxylation, converting undercarboxylated (ucOC) to carboxylated osteocalcin (cOC), in offspring remains unclear, given conflicting reports on the correlation between serum 25-hydroxyvitamin D (25(OH)D) and specific OC forms. This study investigated OC profile recovery in a mouse model of maternal VDD. Methods: Female C57BL/6J mice were fed a VDD diet from four weeks pre-conception through lactation. Weaned offspring were maintained on the VDD diet and randomized to three groups: control (saline), standard-dose (1500 IU/kg), or high-dose (4500 IU/kg) vitamin D supplementation. Serum 25(OH)D, cOC, and ucOC were quantified via ELISA at 1, 2, and 4 weeks post-intervention. Results: Controls remained vitamin D-deficient (<13 ng/mL). Supplementation dose-dependently increased serum 25(OH)D (p < 0.05). Crucially, while absolute ucOC levels remained stable across all groups, supplementation significantly upregulated cOC and total osteocalcin at all time points (p < 0.05). Consequently, the ucOC/cOC ratio significantly decreased in supplemented groups. Partial correlation analysis revealed a strong positive correlation between 25(OH)D and cOC (r_partial = 0.718) and a negative correlation with the ucOC/cOC ratio (r_partial = −0.433), but no correlation with ucOC (r_partial = −0.102). Conclusions: In offspring affected by maternal VDD, vitamin D supplementation improves the osteocalcin carboxylation profile primarily by driving carboxylated osteocalcin synthesis rather than reducing the undercarboxylated pool. Serum cOC and the ucOC/cOC ratio serve as superior functional biomarkers to ucOC for monitoring therapeutic efficacy in this early-life developmental model.

Background and Clinical Significance: Biliary atresia (BA) and Alagille syndrome (ALGS) represent distinct anatomic and genetic causes of neonatal cholestasis. Their overlapping clinical, biochemical, and early histological features present a formidable diagnostic challenge in early infancy, and their simultaneous coexistence is exceedingly rare. This report documents a unique case of dual diagnosis to highlight the associated diagnostic pitfalls and implications for surgical management. Case Presentation: We present the case of a Taiwanese male neonate who manifested prolonged jaundice and acholic stools. Preoperative imaging and intraoperative cholangiography confirmed biliary atresia, for which the patient underwent a Kasai portoenterostomy. The patient subsequently exhibited an atypical postoperative course characterized by persistent hyperbilirubinemia and intractable pruritus. This atypical trajectory prompted an extensive, multisystem evaluation and molecular genetic analysis, revealing a concurrent genetic diagnosis of Alagille syndrome. To our knowledge, this dual diagnosis is rarely reported in the literature, which creates a significant challenge in determining surgical candidacy and predicting long-term liver health outcomes. Discussions: Early differentiation is complicated by the fact that some ALGS patients can initially mimic BA. Beyond its exceptional rarity, this case holds profound clinical significance for the evaluation of neonatal cholestasis, serving as a stark reminder of the risks of “diagnostic premature closure.” In diagnostically challenging cases of neonatal cholestasis, intraoperative biliary exploration remains the gold standard for the timely diagnosis of BA. Genetic testing should be considered an adjunctive tool when clinical and histological findings are inconclusive. Conclusions: This case highlights a critical clinical caveat in neonatal cholestasis: while a confirmed diagnosis of anatomical BA typically stands alone as a solitary pathology, clinicians should remain mindful of the remote possibility of a concurrent genetic etiology like ALGS in highly atypical presentations. Persistently unexpected postoperative jaundice or the accumulation of multisystem anomalies should prompt an expansion of the differential diagnosis. Recognizing this rare coexistence is crucial for effective multidisciplinary management, informed surgical decision-making, and accurate genetic counseling.