Frontiers in Pediatrics最新文献

Background: Splenic cysts are relatively rare benign tumors that are asymptomatic in most patients and are usually discovered incidentally by imaging. In our case, we report a splenic cyst in a child who underwent laparoscopic partial splenectomy.

Case description: A 13-year-old boy was admitted to the hospital after an incidental finding of a splenic cyst on an abdominal ultrasound conducted 4 days prior. He was asymptomatic before admission. Upon admission, abdominal ultrasound and CT revealed a cystic lesion in the spleen, highly suspicious for a splenic cyst. Then, we used transumbilical single-site laparoscopic exploration and found a cyst measuring approximately 12 cm × 11 cm × 10 cm at the upper pole of the spleen, so we performed a partial splenectomy and diagnosed a primary epithelioid splenic cyst via postoperative pathology.

Conclusions: Splenic cysts in children are very rare and can be treated conservatively in asymptomatic patients with a diameter of less than 5 cm, while surgery is required in symptomatic patients or those with a diameter greater than or equal to 5 cm. Transumbilical single-site laparoscopic partial splenectomy is a minimally invasive and effective treatment, especially for children.

Background: Alström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal dysfunction. The disease exhibits marked interindividual variability, both in clinical manifestations and age of onset. Several attempts have been made to establish a relationship between phenotype and genotype, with little success.

Methods: We present the case of an infant who presented with dilated cardiomyopathy, above-average weight and neurosensory deficits, raising the suspicion for Alström syndrome, later confirmed through genetic testing. Moreover, we conducted an extensive literature search to identify all reported cases having the same variant as our patient, in order to evaluate whether specific mutated alleles have a role in determining phenotype-genotype associations.

Results: A 4-month-old female infant with a recent history of bronchiolitis was referred to our centre due to a systolic murmur. In our service, the clinical exam was significant for above-average weight, dyspnea, wheezing and a grade II systolic murmur. Echocardiography revealed dilated cardiomyopathy with severe systolic dysfunction of the left ventricle. Laboratory investigations revealed elevated NT-proBNP and troponin levels, along with positive IgM antibodies for CMV and EBV. Dilated cardiomyopathy attributed to viral myocarditis was suspected. Treatment with ACE inhibitors and diuretics was started, with a favourable response initially. However, after a few months, the patient presented with vertical nystagmus and head bobbing. The ophthalmologic exam revealed cone-rode dystrophy. Considering the constellation of symptoms, Alström syndrome was suspected. Genetic testing revealed a homozygous variant [c.4156dup (p.Thr1386Asnfs*15)] in the ALMS1 gene, confirming the diagnosis.

Conclusion: Our literature review revealed 8 additional cases harbouring the same variant as our patient, five in a heterozygous state, two in a homozygous state and one with only one allele identified. The identified patients presented high heterogeneity of clinical manifestations and age of onset. The heterogeneity persisted even in patients with homozygous variants, suggesting the involvement of factors beyond the specific disease-causing variant in determining disease manifestation. Therefore, genotype-phenotype correlations might not be supported by specific variants.

Objectives: To investigate the clinical presentation and outcomes for a series of female pediatric patients with severe anterior deflection of the urinary stream (ADUS) who were managed via urethromeatoplasty.

Methods: This single institution retrospective cohort study used the institutional billing database to identify female patients ≤18 years who received a urethromeatoplasty (CPT 53450) from 2007 to 2022. Patients were included if a substantial anterior deflection of their urinary stream was the primary indication for surgery. Patients were excluded if they were >18 years of age, had a history of prior genital trauma, or underwent surgery for an indication other than a deflected urinary stream.

Results: Twenty female patients underwent urethromeatoplasty between 2007 and 2022, with a median age of 3 years old. All patients presented with difficulty aiming the urinary stream during toilet training and demonstrated a web of tissue along the posterior aspect of the urethral orifice. 19/20 patients noted immediate response (i.e., normal, non-deflected urinary stream) after the urethromeatoplasty with no further urinary complaints. There were no post-operative complications within a 90-day period.

Conclusions: ADUS is a clinical entity characterized by a web of deflecting tissue at the female posterior urethral meatus that causes severe urinary deflection without other urologic symptoms. This is not well-described in the literature. Surgical correction via urethromeatoplasty is safe and effective.

Background: Allergic rhinitis (AR) is an inflammatory condition of the nasal mucosa triggered by exposure to non-harmful substances. Over the past decade, the prevalence of AR in Chinese children has been steadily increasing. However, detailed epidemiological data on AR in children from Bayannur City are lacking.

Methods: This study randomly selected six primary schools in Bayannur City. Electronic questionnaires were distributed via the web, and parents and children completed the questionnaires by scanning the two-dimensional code within a designated timeframe. Statistical analysis was performed on the collected data.

Results: A total of 4,754 valid responses were obtained. The self-reported prevalence of AR among children in Bayannur city was 39.79%. Multivariate analysis revealed that male gender, belonging to an ethnic minority, a history of food or drug allergies, frequent antibiotic use (≥3 times per year in the past two years, with each course lasting ≥3 days), and residence in urban or pastoral areas was associated with an increased prevalence of AR in children. The proportion of children experiencing moderate to severe AR hat impacted their studies or daily life was 48.78%. Chronic AR was reported in 56.71% of cases. Among AR patients with other allergic conditions, the incidence rates were as follows: bronchial asthma 35.99%, upper airway cough syndrome (UACS) 64.32%, secretory otitis media (SOM) 22.41%, obstructive sleep apnea hypopnea-syndrome (OSAHS) 49.58%, allergic dermatitis (AD) 48.72%, and allergic conjunctivitis (AC) 85.20%. The prevalence of AR was 50.30% in urban areas, 13.733% in rural areas and 20.90% in pastoral areas. Seasonal effects on AR prevalence were notably significant in urban and pastoral regions.

Conclusions: The prevalence of AR among children in Bayannur city was 39.80%. Of those with AR, 48.72% experienced significant impacts on their learning or daily life, while only 14.80% had no other allergic conditions. There were significant variations in the prevalence and onset of AR among children between urban, agricultural and pastoral areas.

Background: Cronkhite-Canada syndrome (CCS) is extremely rare in children, presenting with complex clinical manifestations often leading to misdiagnosis.

Case presentation: We reported a description of a 13-year-old boy with CSS presenting with persistent diarrhea, vomiting, abdominal pain, along with symptoms of weight loss, alopecia, and skin hyperpigmentation. The patient had ectodermal manifestations such as alopecia and skin hyperpigmentation. Laboratory tests revealed hypoalbuminemia, normal inflammatory indicators, positive anti-dsDNA antibodies, anti-centromere antibodies, and anti-nuclear antibodies. Gastrointestinal endoscopy identified polypoid changes in the stomach, duodenum, and colon, with pathology indicating glandular dilation, cryptitis, and crypt abscesses. Treatment with prednisone led to significant improvement in symptoms, including normalization of stool consistency, hair regrowth, and disappearance of skin hyperpigmentation.

Conclusion: This study emphasizes the importance of comprehensive assessment, endoscopic examination, histological biopsy, and the effectiveness of steroid therapy in the diagnosis and management of CCS in children. In children presenting with diarrhea, abdominal pain, weight loss, polyposis, and ectodermal manifestations, CCS should be considered.

Primary ciliary dyskinesia (PCD) is a hereditary disorder characterized by defects in cilia that impair mucociliary clearance. This study focuses on PCD caused by mutations in the Cyclin O (CCNO) gene and reports on three cases involving Chinese children. Case 1 was an 8-year-and-3-month-old boy who presented with respiratory distress after birth and later developed a recurrent productive cough and purulent nasal discharge. He was initially diagnosed with diffuse panbronchiolitis (DPB) due to the presence of diffuse micronodules in lung CT scans. Case 2 was the younger sister of case 1. She also presented with respiratory distress after birth, with a chest radiograph revealing atelectasis. She required oxygen supplementation until the age of 2 months. Case 3 was a 4-year-and-4-month-old girl with a history of neonatal pneumonia, persistent pulmonary atelectasis, and recurrent lower respiratory tract infections. Her chest radiograph also showed diffuse micronodules. In all three cases, the final diagnosis of PCD was confirmed by genetic testing. Cases 1 and 2 exhibited homozygous c.248_252dup TGCCC (p.G85Cfs*11) mutations in the CCNO gene, while case 3 harbored a homozygous c.258_262dup GGCCC (p.Q88Rfs*8) mutation. A literature review indicated that the common clinical features of CCNO-PCD include neonatal respiratory distress (40/49, 81.6%), chronic cough (31/33, 93.9%), rhinosinusitis (30/35, 85.7%), bronchiectasis (26/35, 74.3%), and low nasal nitric oxide (nNO, 40/43, 93.0%). Notably, situs inversus has not been reported. In CCNO-PCD patients, cilia may appear structurally normal but were severely reduced in number or entirely absent. Lung CT scans in these patients may exhibit diffuse micronodules and "tree-in-bud" signs, which can lead to a clinical misdiagnosis of DPB. nNO screening combined with genetic testing is an optimized diagnostic strategy. Treatment options include the use of anti-infective and anti-inflammatory agent, along with daily airway clearance. This study underscores the importance of genetic testing in neonates and children with suspected PCD or those clinically diagnosed with DPB to enable an early diagnosis and prompt intervention, thereby enhancing the prognosis for these patients.

Introduction: Despite the advances in perinatal care, bronchopulmonary dysplasia (BPD) continues to be a highly prevalent chronic lung disease that affects newborns, especially affecting premature newborns. There is no specific cure for BPD, and treatments aimed at reducing the risk of developing BPD focus mainly on lung-protective ventilation strategies, surfactant therapy, and/or corticosteroid administration. Our objective was to evaluate whether systemic postnatal administration of a new glucocorticoid, ciclesonide, can attenuate the alteration of lung structure and pulmonary hypertension in a rat model of chorioamnionitis-induced BPD, with minimal adverse effects on the developing brain.

Methods: Endotoxin (ETX) or saline was administered to pregnant rats by intra-amniotic (i.a.) injection on day 20 of pregnancy, and pups were delivered by cesarean section on day 22. Ciclesonide (0.5 mg/kg) was administered postnatally for five consecutive days to pups previously exposed to i.a. ETX. On postnatal day 14, we assessed lung function (compliance), lung structure (radial alveolar count, mean linear intercept, pulmonary vessel density), pulmonary hypertension, and brain histology (edema, inflammation, apoptosis, hemorrhage, and infarction).

Result: On postnatal day 14, the effects of i.a. ETX administration were evident in neonatal rats not receiving treatment; these animals showed impaired lung compliance, disrupted lung structure, and developing pulmonary hypertension compared to those receiving i.a. saline. Postnatal administration of ciclesonide for 5 days was associated with significantly better outcomes in terms of lung compliance, alveolarization, lung vascular growth, and pulmonary hypertension, without affecting the brain histological parameters evaluated.

Conclusion: Postnatal ciclesonide administration preserved lung function and structure and prevented pulmonary hypertension in a BPD model induced by antenatal i.a. ETX administration, without causing any adverse effects on brain development. These findings suggest that the new glucocorticoid, ciclesonide, may provide a novel strategy for the prevention of BPD; however, more long-term studies are required.

Background: In recent years, with the development of society, children's daily exposure to screen time has gradually increased. Screen exposure and sedentary behavior have brought a host of harms to children's lives. The aim of this study was to explore the effects of screen exposure and sedentary behavior on precocious puberty and early development.

Methods: This is a cross-sectional study in the school-based population. A total of 3,560 children were recruited from Qufu City, Shandong province using multistage stratified cluster random sampling. All study subjects had a physical examination by professional pediatricians in October 2019, and were investigated with health questionnaires. Precocious puberty is defined as development of secondary sexual signs in boys before 9 years or in girls before 8 years. Screen time was calculated as the average of screen time on weekdays and weekend days, and sedentary time was calculated as the average of sedentary time on weekdays and weekend days. After adjusting for potential confounders, logistic regression was used to examine the association between screen exposure and sedentary behavior and early puberty and precocious puberty.

Results: Sedentary time was a risk factor for precocious puberty and early development (OR = 1.428, 95% CI = 1.087-1.876) in girls without adjustment. No significant association was found between screen exposure and early puberty and early development both in girls and boys.

Conclusions: Excessive sedentary behavior was associated with an increased risk of early puberty, especially in girls, while there was no significant association between screen exposure and early puberty and early development. In addition, further longitudinal investigations are needed to determine the causal relationship between screen exposure, sedentary behavior and precocious puberty.

[This corrects the article DOI: 10.3389/fped.2023.1269628.].