Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by biallelic loss-of-function variants of the survival motor neuron 1 (SMN1) gene on chromosome 5q13. It has been reported that SMA may affect the function of the kidneys. Here, we report a patient with co-occurrence of SMA and IgA nephropathy (IgAN).
Case presentation: A 14-year-old girl presented with six months of limb weakness, progressive exacerbation of symptoms of left lower limb muscle weakness; her left lower limb muscle strength decreased, and bilateral knee tendon reflexes and Achilles tendon reflexes were not elicited. The patient was diagnosed with SMA type 3 in conjunction with the results of genetic testing. The patient had proteinuria and hematuria, and a renal biopsy was performed. Considering the patient's clinical and pathological characteristics, the final diagnosis was spinal muscular atrophy combined with IgA nephropathy. To the best of our knowledge, this is the first reported case that demonstrates the coexistence of SMA and IgAN.
Discussion and conclusions: The exact mechanism of renal impairment due to SMA is not fully understood, and the combination of SMA with IgAN is extremely rare. Our report suggests that there may be a potential association between them.
Intravascular papillary endothelial hyperplasia (IPEH), or Masson's tumor, is a rare, benign vascular lesion that can closely resemble malignant vascular tumors. While primarily diagnosed in adulthood, pediatric cases are uncommon, and no prenatal diagnoses have been reported to date. Here, we present the first documented prenatal presentation of fetal intracranial IPEH detected in utero at 34 weeks of gestation. This case highlights the importance of considering IPEH in the differential diagnosis of fetal intracranial masses and underscores the role of early prenatal detection in optimizing perinatal and surgical management.
Objective: To explore the clinical characteristics of neonatal late-onset sepsis (LOS) and analyze the independent risk factors for secondary neonatal purulent meningitis (NPM).
Methods: This retrospective case-control study included infants diagnosed with LOS at the Children's Hospital of Soochow University between January 2018 and December 2023. The study divided the patients into two groups: the NPM group and the non-NPM group, based on the presence of secondary purulent meningitis. Clinical characteristics, laboratory markers, pathogen distribution, and treatment regimens were compared between the two groups. Independent risk factors were identified through multivariable logistic regression analysis, and a receiver operating characteristic (ROC) curve was used to evaluate the predictive performance.
Results: A total of 453 LOS patients were included, with 98 (21.6%) cases in the NPM group. Compared to the non-NPM group, the NPM group exhibited a higher frequency of prolonged fever (>3 days), fever peak >39 °C, tachypnea, seizures, irritability, poor feeding, and bulging anterior fontanel (all P < 0.05). Laboratory tests showed elevated procalcitonin (PCT) in the NPM group, while albumin, cholinesterase, glycocholic acid, and creatine kinase (CK) levels were decreased (all P < 0.05). Blood culture results revealed that the NPM group had a significantly higher proportion of non-Group B Streptococcus and Enterobacter cloacae, but a lower proportion of Staphylococcus aureus (P < 0.05). Multivariable analysis identified prolonged fever (>3 days), fever peak >39 °C, tachypnea, PCT >10.50 ng/mL, and CK <200 U/L as independent risk factors for LOS complicated by NPM. ROC analysis showed that the combined prediction model had an AUC of 0.804 (95% CI: 0.751-0.856), with a sensitivity of 75.24% and specificity of 72.83%, which outperformed the individual predictors for predicting NPM.
Conclusion: Prolonged high fever, abnormal respiration, elevated PCT, and decreased CK levels are important independent predictors of LOS complicated by NPM. The combined prediction model demonstrates high diagnostic efficacy, providing a useful reference for early identification of high-risk infants and the development of personalized intervention strategies.
[This corrects the article DOI: 10.3389/fped.2025.1663214.].
Background: Calcineurin inhibitors are widely used in organ transplantation and nephrotic syndrome, with chronic toxicities well documented, but acute toxicity is rarely reported.
Case presentation: We report a 3.9-year-old boy with steroid-dependent nephrotic syndrome who accidentally ingested a single dose of cyclosporine A (CsA) at 75 mg/kg (1,500 mg)- over 20 times the intended dose of 3.5 mg/kg (70 mg)-due to medication error. He developed transient abdominal pain, diarrhea, and vomiting, which resolved without treatment. Error was discovered 12 h post-ingestion, and he was hospitalized with a CsA trough level of 1003 ng/mL (measured 13 h after ingestion), yet remained clinically stable. Management included CsA discontinuation, intravenous hydration, rifampin- and phenobarbital-induced cytochrome P450 activation, resulting in normalization of CsA levels within 48 h. A literature review identified 28 pediatric cases of acute CsA overdose, with presentations ranging from asymptomatic to severe neurotoxicity and acute kidney injury. The varied, including supportive care, gastrointestinal decontamination, and enzyme induction, with generally favorable outcomes.
Conclusions: Although rare, acute CsA overdose in children can pose serious risks. This case and review underscore the symptoms of overdose and prompt intervention to prevent complications.
Prompt and accurate detection of elevated intracranial pressure (ICP) is vital in the management of pediatric traumatic brain injury (TBI). While invasive ICP monitoring remains the gold standard, its application is often limited by contraindications or local logistical constraints. Consequently, a substantial number of moderate TBI cases are managed without direct ICP monitoring, despite the risk of secondary intracranial hypertension. This underscores the need for reliable, non-invasive diagnostic alternatives. One such technique-optic nerve sheath diameter (ONSD) measurement via point-of-care ultrasound (POCUS)-leverages cerebrospinal fluid (CSF) accumulation around the retrobulbar optic nerve as a surrogate marker for raised ICP. Although ONSD is recognised for its simplicity, speed, and repeatability, its clinical adoption in pediatric settings remains limited due to the absence of standardised guidelines and normative data. This manuscript synthesises the current evidence on ONSD measurement in children, highlighting its diagnostic potential, methodological considerations, and limitations. By consolidating recent research, we aim to support pediatric intensivists in the practical application of ONSD as a non-invasive tool for ICP assessment, ultimately improving clinical decision-making and prognostic evaluation in pediatric TBI.
Video capsule endoscopy (VCE) has revolutionized the evaluation of small bowel pathology, offering a safe, non-invasive, radiation-free diagnostic modality with broad clinical utility. Patency capsule use has further improved safety by minimizing the risk of retention in patients with suspected strictures. Since its introduction, its applications have expanded from obscure gastrointestinal bleeding and Crohn's disease to celiac disease, polyposis syndromes, and small bowel tumors among other indications. Emerging artificial intelligence (AI) integration promises to enhance diagnostic accuracy, streamline image analysis, and reduce interobserver variability. Furthermore, advancements in capsule design, including magnetic-assisted navigation and extended battery life, enable precise control and complete small bowel evaluation, even in cases of delayed gastrointestinal motility. High-definition imaging further allows for the identification of subtle mucosal abnormalities, such as vascular lesions, inflammation, and erosions, that might otherwise go undetected. Beyond diagnosis, novel applications, such as motility capsule studies and wireless capsule drug delivery systems, are unlocking new possibilities for functional and therapeutic interventions. Future innovations combining diagnostic and interventional capabilities promise to reduce the need for invasive procedures, optimize outcomes, and significantly enhance the quality of life for pediatric patients.
Background: Oral propranolol is effective in promoting the involution of infantile hemangiomas (IHs), but treatment outcomes vary widely.
Objectives: To identify demographic and clinical factors influencing the time to achieve complete regression in IH patients treated with propranolol.
Methods: A retrospective study was conducted on 410 IH patients treated at the Department of Dermatology and Venereology, Capital Center for Children's Health, Capital Medical University, between 2018 and 2023. Patients received propranolol (3 mg/kg/day) and were followed monthly. The primary outcome was the time (months) required to achieve an Achauer grade IV response, defined as complete or near-complete resolution. Treatment was continued until this endpoint was reached.
Results: The cohort included 157 males (38.3%) and 253 females (61.7%) with a median age of 2 months (interquartile range, 2-4 months); 36 (8.8%) were preterm. All patients eventually achieved an Achauer IV outcome, with a median treatment duration of 7 months (95% CI, 6-10 months). Age at treatment initiation, lesion location, and IH subtype significantly influenced the time to cure, while sex and prematurity did not.
Conclusions: Propranolol remains the first-line pharmacotherapy for IHs. The treatment duration required to reach an Achauer IV outcome is prolonged when therapy begins after 7 months of age, when lesions are located in the periorbita, nose, chest/back, perineum/anal region, or when deep/mixed subtypes are present.
Background: Surgical intervention is indicated for significantly displaced lateral humeral condyle fractures (LHCFs) in children. Arthroscopic-assisted closed reduction represents a minimally invasive alternative; however, its widespread adoption has been limited by the technical challenges inherent in both pediatric fracture management and elbow arthroscopy. This study introduces a simplified technique utilizing a single proximal anterolateral portal for arthroscopic-assisted reduction, which has shown promising efficacy and safety.
Methods: A retrospective analysis was performed on 18 pediatric patients with LHCFs who underwent arthroscopic-assisted closed reduction via a single proximal anterolateral portal at our institution between March 2024 and February 2025. The cohort included 14 boys and 4 girls, with a mean age of 6.1 ± 1.6 years. The mean interval from injury to surgery was 4.7 ± 2.1 days. Data on fracture classification, operative time, duration of K-wire fixation, and functional outcomes were collected and analyzed.
Results: All 18 patients successfully underwent the procedure. The mean operative time was 56.9 ± 10.0 min, and K-wires were maintained for a mean of 35 ± 8.5 days. At the final follow-up, no significant differences in the carrying angle were observed between the injured and contralateral limbs. According to the Flynn criteria, 16 cases were rated as excellent and 2 as good. One case of a superficial pin site infection resolved with conservative wound care. No instances of delayed union, nonunion, neurovascular injury, or compartment syndrome were recorded.
Conclusion: The single proximal anterolateral portal technique for arthroscopic-assisted reduction of LHCFs facilitates minimally invasive debridement of the fracture site and provides direct visualization of the reduction process. This approach serves as a viable and effective alternative for managing lateral condylar fractures that are not amenable to conventional closed reduction due to severe displacement or a prolonged delay from injury. The technique demonstrates a favorable safety profile, and shows promise for broader clinical adoption pending further validation.
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