Frontiers in Pediatrics最新文献

Purpose: To investigate the role of tight filum terminale (TFT) in pediatric spinal cord injury without radiographic abnormality (SCIWORA) following low-energy trauma and to evaluate the efficacy of minimal invasive interlaminar approach (MIIA) for filum terminale transection in treating these patients. The study aims to determine whether early surgical intervention can improve neurological outcomes in this specific patient population.

Methods: This retrospective case series included four pediatric patients with SCIWORA and concurrent TFT treated at Women and Children's Hospital of Ningbo University from December 2022 to May 2024. The patients underwent MIIA for filum terminale transection. We retrospectively analyzed the medical records, clinical courses, presentations, and treatment strategies for these patients.

Results: All patients in this case series showed evidence of TFT following low-energy trauma. All patients underwent MIIA for filum terminale transection and intraspinal canal exploration due to progressive neurological impairment. None had received steroid treatment. Postoperatively, none experienced further neurological deterioration or complications. Two patients achieved complete resolution of preoperative symptoms within three months, one showed significant neurological improvement, and one had stable neurological status without further worsening.

Conclusion: TFT might be the etiology of SCIWORA in children after suffering from low-energy injuries. Performing filum terminale transection as early as possible after the occurrence of SCIWORA complicated by tight filum terminale in children might be beneficial for relieving the state of spinal cord ischemia and hypoxia caused by longitudinal traction of the spinal cord as early as possible and facilitating the recovery of neurological injuries.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting 0.7% of children globally, with 90% experiencing comorbid gastrointestinal (GI) symptoms. Fecal microbiota transplantation (FMT) may modulate ASD symptoms via the microbiota-gut-brain axis (MGBA).

Methods: This open-label single-arm trial enrolls 30 children (2-12 years) with moderate-to-severe ASD, defined as a Childhood Autism Rating Scale (CARS) score of ≥36. Participants receive 3 nasojejunal FMTs (5 mL/kg) over 5 days. The primary outcomes are GI symptom improvement, assessed using the Gastrointestinal Symptom Rating Scale (GSRS), and ASD severity, assessed using the CARS. Secondary outcomes include social responsiveness (Social Responsiveness Scale, SRS), aberrant behaviors (Aberrant Behavior Checklist, ABC), and gut microbiota changes assessed by metagenomic next-generation sequencing (mNGS).

Ethics and dissemination: Ethical approval obtained from Shenzhen Children's Hospital Ethics Committee. Results will be disseminated via peer-reviewed publications and conference presentations.Clinical Trial Registration: https://www.chictr.org.cn/showproj.html?proj=229136, identifier ChiCTR2400083998. Registered on 2024-05-08. Registered title: "Efficacy and safety of fecal microbiota transplantation in treatment of autism spectrum disorder: a prospective single-center intervention study".

Background: Lower respiratory infections are a significant cause of morbidity and mortality in children. The aim of this study was to determine whether cytokine levels measured in plasma at the time of admission to the hospital can predict disease etiology or severity.

Methods: Blood was collected from pediatric inpatients, and cytokine levels were determined by cytokine multiplex analyses. Plasma cytokine concentrations were then analyzed using logistic regression and machine learning approaches to determine if we could accurately predict if a child would require longer-term hospitalization (≥5 days), intensive care, or exhibit hypoxemia (SpO₂ < 90%).

Results: A total of 159 patients were enrolled, and 59 cytokines were assessed in relation to the type of infection and severity. The most prevalent viral infections were human rhinovirus/enterovirus (hRV/EV; 24.4%), respiratory syncytial virus (RSV; 21.8%), and influenza virus (16.7%). Several cytokines (CHI3L1, IL-1Rα, IL-6, G-CSF, MCP-1, and MIP-1α) were elevated in severe pneumonia cases, regardless of disease etiology. Predictors of duration in RSV cases were distinct from other causes, with a predominance of type-2 immune response. Cytokines such as chitinase-3-like-1 (CHI3L1), pentraxin-3, osteopontin, and IL-20 correlated with severity across multiple groups. Plasma levels of IL-6, MMP-2 and LIGHT could be employed to separate viral vs. community acquired pneumonia (CAP). In influenza cases, longer-term hospitalization and ICU admission could be predicted based on two cytokines, CHI3L1 and sTNFR1. RSV severity was closely correlated with levels of MIP-1α, IL-26, G-CSF, and IFNβ.

Conclusions: This study highlights the heterogeneity of immune responses to severe pneumonia and provides new groupings of cytokines which may distinguish between viral and non-viral pneumonia.

Culler-Jones syndrome (CJS) (OMIM: 615849) is a rare genetic condition characterized by considerable phenotypic variability. This case reports a 5-day-old male neonate who presented with postaxial polydactyly, growth restriction, and recurrent epileptic seizures. A thorough clinical workup, including laboratory investigations, imaging, and genetic analysis, resulted in a confirmed diagnosis of Culler-Jones syndrome. Peripheral blood samples collected from the proband and his parents were used for DNA extraction. Whole-exome sequencing (WES) identified a heterozygous nonsense variant in the GLI2 gene, [c.2137(exon13)G>T/p.(E713,857) (NM_001374353)], which was subsequently validated by Sanger sequencing and determined to be maternally inherited. This mutation has not been previously documented in the literature. By detailing the clinical presentation, genetic findings, and relevant context, this case report aims to broaden the known phenotypic spectrum of Culler-Jones syndrome and support clinicians in early detection and diagnosis.

Background: Neonatal-onset multisystem inflammatory disease (NOMID) is a rare autoinflammatory disease caused by NLRP3 mutations, leading to excessive interleukin-1β activation and potential irreversible organ damage.

Case description: We report a female neonate presenting at birth with urticaria-like rash, intermittent fever, aseptic meningitis, lymphadenopathy, and polyarthritis with persistently elevated inflammatory markers. Whole-exome sequencing revealed a heterozygous de novo NLRP3 mutation (c.2263G>A, p.Gly755Arg), confirmed as pathogenic. Conventional therapies, including antibiotics, corticosteroids, and antihistamines, failed to achieve symptom control. Canakinumab (2-3 mg/kg per 8 weeks) was initiated, leading to rapid resolution of fever, rash, and inflammatory markers, and successful induction of clinical and biochemical remission with canakinumab during the 13-month follow-up.

Conclusion: This case highlights the importance of early recognition of NOMID in neonates with antibiotic-unresponsive systemic inflammation. Early genetic confirmation and targeted IL-1 blockade with canakinumab are crucial to preventing devastating complications.

This case report describes a male infant with congenital Factor XIII deficiency who presented with severe intracranial hemorrhage. The late preterm infant (36⁺⁴ weeks) exhibited early signs of bleeding, including a hematoma at an injection site and umbilical stump bleeding. At two months of age, he experienced a spontaneous, grade IV intracranial hemorrhage complicated by hydrocephalus. Notably, routine coagulation studies were within normal limits. The diagnosis was confirmed by genetic testing, which identified compound heterozygous mutations in the F13A1 gene. Management involved external ventricular drainage and regular fresh frozen plasma transfusions as replacement therapy, resulting in a favorable outcome. This case underscores that congenital FXIII deficiency should be considered in the differential diagnosis for infants presenting with unexplained perinatal bleeding or intracranial hemorrhage, especially when standard coagulation screens are normal. Early genetic testing and institution of structured replacement therapy are crucial for preventing life-threatening bleeding and improving long-term prognosis.

Background: Hirschsprung's disease (HSCR) is the second most common congenital gastrointestinal malformation, posing a significant health concern in pediatrics. The laparoscopic modified Soave procedure, a minimally invasive technique, has gained popularity due to its potential advantages. This study aimed to evaluate its clinical efficacy in comparison with the traditional transanal Soave procedure.

Methods: This comparative retrospective cohort study included children with HSCR treated at Qilu Hospital between January 2014 and January 2024. The patients were divided into the following two groups: the Laparoscopic group (those who underwent the laparoscopic modified Soave procedure) and the Transanal group (those who underwent the transanal Soave procedure). The assessed outcomes included postoperative recovery metrics, complication rates, and 1-year follow-up results.

Results: In total, 96 patients were included in the study. Compared with the Transanal group, the Laparoscopic group demonstrated reduced surgical time, faster gastrointestinal recovery, and reduced hospital stay duration (P < 0.05). Intraoperative blood loss was greater in the Laparoscopic group (P < 0.05). Complication rates were lower in the Laparoscopic group (4.17%) than in the Transanal group (14.58%), although the difference was not statistically significant (P > 0.05). Notably, the incidence of postoperative abdominal distension was lower in the Laparoscopic group (P < 0.05), but no significant differences observed in multivariate analysis of postoperative outcomes (P < 0.05).

Conclusion: The laparoscopic modified Soave procedure demonstrated superior clinical efficacy compared to the transanal approach, offering faster recovery and a trend toward fewer complications. These findings support its wider adoption as a minimally invasive treatment option for HSCR.

Purpose: The arterial oxygen tension at which haemoglobin is saturated at 50% (p50) can be used as a marker of respiratory disease severity. We aimed to explore whether p50 was higher in preterm infants who developed bronchopulmonary dysplasia (BPD) and extrapulmonary complications of prematurity compared to infants who did not.

Methods: Ventilated infants born before 32 weeks of gestation with central arterial access were retrospectively studied. The p50 was measured by automated blood gas analysis in the first three days after birth. Outcomes included BPD, intraventricular haemorrhage (IVH), retinopathy of prematurity (ROP) and necrotising enterocolitis (NEC).

Results: One hundred and five infants (50 male) with a median (IQR) gestational age of 26.6 (24.9-28.6) weeks and birth weight of 0.88 (0.68-1.13) kg were studied. They had a median (IQR) p50 of 3.34 (3.08-3.77) kPa. IVH was significantly associated with the p50 (adjusted p = 0.020, Odds Ratio: 2.9, 95% CI: 1.2-7.1) after adjusting for gestational age. The p50 was not significantly different in infants who developed BPD, ROP and NEC vs. the infants who did not develop these complications after adjusting for confounders.

Conclusion: Intraventricular haemorrhage in ventilated preterm infants might be associated with an increased p50 in the early days after birth.

We reported a rare case of paragonimiasis occurring in twin sisters who had eaten raw crabs 7 months ago. The elder sister complained of eyelid swelling and migratory lumps, while the younger sister was asymptomatic. Laboratory tests showed eosinophilia and elevated levels of inflammatory indicators in the two sisters. The brain MRI of the elder twin showed hyperintensity in the frontal lobe, suggesting cerebral hemorrhage. The chest CT image of the twins showed pulmonary involvement. Enzyme-linked immunosorbent assay (ELISA) for serum antibody test and metagenomic next-generation sequencing (mNGS) of subcutaneous tissue from the eyelid-obtained via sterile puncture aspiration under local anesthesia-confirmed Paragonimus skrjabini infection. After praziquantel treatment, both of the sisters recovered. This study aims to enhance clinical awareness and highlight the application of advanced molecular diagnostic technologies for identifying rare parasitic infections.

Background: Duplication of the collecting system (DCS) is common. The management of asymptomatic, non-functioning moieties remains controversial because of a theoretical risk of malignancy, and prophylactic heminephrectomy is occasionally proposed despite the standard practice of reserving surgery for symptomatic complications.

Objective: To critically appraise whether current evidence supports prophylactic heminephrectomy solely for cancer prevention in asymptomatic pediatric duplex systems.

Methods: We conducted a focused narrative mini-review of PubMed (updated May 2025) and population-based cancer registries, concentrating on absolute malignancy risk and DCS-specific oncologic evidence.

Evidence synthesis: Pediatric renal tumors are rare (Wilms tumor ≈7-10 per million children annually; pediatric renal cell carcinoma is even less frequent). The purported association between DCS and malignancy is based on six pediatric case reports (four Wilms tumors and two renal cell carcinomas). No denominator-based cohort data demonstrate an incidence above baseline. Mechanistic plausibility for carcinogenesis in a quiescent, uninfected, non-functioning moiety remains unproven. Although minimally invasive heminephrectomy is generally safe in experienced centers, complications such as bleeding, urinary leak, ureteral stump problems, and potential compromise of the preserved moiety are clinically relevant.

Conclusions: Current evidence does not support routine prophylactic heminephrectomy for asymptomatic, non-functioning moieties in children. A conservative strategy with structured ultrasound surveillance at 6-12-month intervals and predefined surgical triggers is prudent and consistent with the available evidence.