Pediatric Reports

8 pages, 5199 KB

Open AccessCase Report

An Infant Autopsy Case of Acute Appendicitis with Lymphoid Hyperplasia

by Momoka Tanabe, Kazuho Maeda, Hikaru Kuninaka, Moe Mukai, Noriko Ogawa, Ayako Nasu, Chiaki Fuke, Yosuke Usumoto and Yoko Ihama

Pediatr. Rep. 2025, 17(5), 96; https://doi.org/10.3390/pediatric17050096 - 17 Sep 2025

Abstract

Acute appendicitis is a common cause of acute abdominal pain but is rare in infants because of anatomical and physiological characteristics that reduce the risk of the luminal obstruction of the appendix. However, when it occurs in infants, it is often difficult to [...] Read more.

Acute appendicitis is a common cause of acute abdominal pain but is rare in infants because of anatomical and physiological characteristics that reduce the risk of the luminal obstruction of the appendix. However, when it occurs in infants, it is often difficult to diagnose clinically and may progress rapidly to a fatal outcome. We report a forensic autopsy case of an 11-month-old infant who died 2 d after developing fever and decreased oral intake, without antemortem diagnosis. Autopsy revealed fibrinous ascitic fluid and an edematous, dark-red appendix with fibrin deposits, but no macroscopic luminal obstruction or perforation. Histopathological examination showed diffuse inflammatory cell infiltration and hemorrhage across all layers of the middle and peripheral portions of the appendix, along with lymphoid hyperplasia in the middle portion. Intestinal bacteria were detected in the ascitic fluid. The cause of death was identified as acute appendicitis with subsequent generalized peritonitis. Although luminal obstruction is a common cause of appendicitis, it was not observed macroscopically in this case. However, histopathological findings suggested that lymphoid hyperplasia in the middle portion of the appendix caused luminal narrowing and impaired circulation in the appendiceal wall, triggering appendicitis. This case demonstrates that infantile appendicitis can be fatal even without perforation and highlights the potential role of lymphoid hyperplasia in the pathogenesis. It also underscores the importance of considering appendicitis in the differential diagnosis of infants with nonspecific symptoms and illustrates the value of postmortem histopathological investigation in elucidating the disease mechanism. Full article

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9 pages, 981 KB

Open AccessCase Report

Respiratory Syncytial Virus Infection in Children with Acute Lymphoblastic Leukemia (ALL): A Contemporary Emerging and Struggling Clinical Event

by Marta Arrabito, Emanuela Cannata and Luca Lo Nigro

Pediatr. Rep. 2025, 17(5), 95; https://doi.org/10.3390/pediatric17050095 - 17 Sep 2025

Abstract

Systemic viral infections are frequently life-threatening in immunocompromised children. Many viral pathogens are reported to be the cause of morbidity and mortality in these pediatric patients, but scarce evidence is related to respiratory syncytial virus infection (RSV), which is one of the main [...] Read more.

Systemic viral infections are frequently life-threatening in immunocompromised children. Many viral pathogens are reported to be the cause of morbidity and mortality in these pediatric patients, but scarce evidence is related to respiratory syncytial virus infection (RSV), which is one of the main viral causes of lower respiratory tract infection in infants and young children. Herein we report the experience of the Center of Pediatric Hematology Oncology of Catania regarding RSV infection in pediatric leukemia patients, describing four cases: three with only respiratory involvement and complete recovery (two of them presented mild symptoms and one evolved into severe respiratory failure) and a fourth case with an initial hepatic and pulmonary involvement leading to death. Unfortunately, some viral infections have delayed diagnoses because of lack of awareness and atypical presentation. Therefore, our intent is to highlight the importance of mindfulness of the occurrence of this infection and of its typical and atypical manifestations in order to detect it early and decrease the risk of morbidity and mortality. Full article

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9 pages, 1367 KB

Open AccessCase Report

Case Report of Salmonella and HHV-6 Meningitis in an Infant

by Sara Abed, Tahani Asiri, Razan Alzahrani and Wujud Hunjur

Pediatr. Rep. 2025, 17(5), 94; https://doi.org/10.3390/pediatric17050094 - 15 Sep 2025

Abstract

Bacterial meningitis is one of the most serious infections. Salmonella meningitis is associated with a high prevalence of long-term adverse outcomes, often linked to acute complications and a broad range of potential neurological sequelae following the infection. Acute complications such as brain abscesses [...] Read more.

Bacterial meningitis is one of the most serious infections. Salmonella meningitis is associated with a high prevalence of long-term adverse outcomes, often linked to acute complications and a broad range of potential neurological sequelae following the infection. Acute complications such as brain abscesses and chronic complications such as hearing loss and developmental delay. In this report, we present a case of a 2-month-old male patient with seizures, hypoactivity and respiratory symptoms, who was found to have Salmonella bacteremia complicated by Salmonella and Human Herpes Virus-6 (HHV-6) meningitis, as well as rhinovirus bronchiolitis, along with follow-up findings. The patient’s data, including demographics, presenting symptoms, physical examination findings, and whole exome sequence results, as well as investigations such as complete blood count (CBC), cerebrospinal fluid (CSF) analysis, liver enzyme levels, and imaging findings, were collected from the electronic medical record system using a case report form. In addition, immunological workups were performed, as serious Salmonella infections were more common in immunocompromised patients. In the literature, there was no clear correlation between Salmonella and HHV-6 meningitis, rhinovirus bronchiolitis, and the complications that developed in this infant. This case report provides valuable insights into the clinical spectrum and long-term outcomes of patients with Salmonella meningitis. Full article

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15 pages, 393 KB

Open AccessArticle

Alarmin Levels and Gastroesophageal Reflux Disease in Children: Significant Elevation of Thymic Stromal Lymphopoietin

by Ola Sobieska-Poszwa, Szymon Suwała, Aneta Mańkowska-Cyl and Aneta Krogulska

Pediatr. Rep. 2025, 17(5), 93; https://doi.org/10.3390/pediatric17050093 - 15 Sep 2025

Abstract

Background/Objectives: In children, gastroesophageal reflux disease (GERD) may lead to epithelial barrier dysfunction and the release of thymic stromal lymphopoietin (TSLP), interleukin-25 (IL-25), interleukin-33 (IL-33) and periostin, known as alarmins. These cytokines are associated with type 2 inflammation and may contribute to [...] Read more.

Background/Objectives: In children, gastroesophageal reflux disease (GERD) may lead to epithelial barrier dysfunction and the release of thymic stromal lymphopoietin (TSLP), interleukin-25 (IL-25), interleukin-33 (IL-33) and periostin, known as alarmins. These cytokines are associated with type 2 inflammation and may contribute to respiratory and allergic conditions. The main purpose of this study is to evaluate serum concentrations of TSLP, IL-25, IL-33, and periostin in children with and without GERD and to assess their relationships with bronchial hyperresponsiveness (BHR) and sensitization to inhaled allergens. Methods: The study included 93 children aged 7–17 years. GERD was diagnosed based on 24-h esophageal pH impedance monitoring. Serum levels of TSLP, IL-25, IL-33, and periostin were measured using enzyme-linked immunosorbent assay (ELISA). It should be noted that the assay used does not distinguish between TSLP isoforms, which represents a limitation of the study. BHR was assessed via a methacholine challenge test, and allergen sensitization was determined using skin prick tests and allergen-specific immunoglobulin E (asIgE). Results: Serum TSLP levels were significantly higher in children with GERD compared to those without, whereas IL-25, IL-33 and periostin did not differ notably between groups. Periostin was associated with the degree of sensitization to inhalant allergens, but no significant links were found between cytokine levels and bronchial hyperresponsiveness. Conclusions: Significantly higher TSLP levels were noted in children with GERD than in those without. Hence, TSLP may have a potential role as a biomarker of epithelial immune activation in pediatric GERD. In addition, periostin was associated with sensitization to inhalant allergens, although it did not differentiate between children with and without GERD. Full article

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10 pages, 408 KB

Open AccessCase Report

Potential Benefits of a Noninvasive Neuromodulation Protocol in Autism Spectrum Disorder with Multiple Comorbidities: A Case Report

by Clarissa Aires de Oliveira, Eugenio Luigi Iorio and Foued Salmen Espíndola

Pediatr. Rep. 2025, 17(5), 92; https://doi.org/10.3390/pediatric17050092 - 12 Sep 2025

Abstract

This case report describes a patient (male, 10 years old) with Autism Spectrum Disorder (ASD) and multiple comorbidities, including epilepsy, gastrointestinal and sleep disturbances, and obesity. Whole-exome sequencing (WES) identified two variants of uncertain significance (VUS) in the GRID2 gene. Mutations in this [...] Read more.

This case report describes a patient (male, 10 years old) with Autism Spectrum Disorder (ASD) and multiple comorbidities, including epilepsy, gastrointestinal and sleep disturbances, and obesity. Whole-exome sequencing (WES) identified two variants of uncertain significance (VUS) in the GRID2 gene. Mutations in this gene are associated with spinocerebellar ataxia type 18 (SCA18). However, this finding did not correlate with the clinical presentation of the patient. This study evaluates the effects of Radio Electric Asymmetric Conveyer (REAC) stimulation on the cognitive–behavioral dysfunctions of a child with severe ASD and multiple comorbidities. Two stimulation protocols—Neuro Postural Optimization (NPO) and Neuro Psychophysical Optimization (NPPO)—and REAC were performed sequentially. After five weeks of treatment, a 34.9% reduction in total scores on the Autism Treatment Evaluation Checklist (ATEC) and an 8.2% on the Autism Behavior Checklist (ABC) were observed. Assessment of the severity of ASD symptoms using the Childhood Autism Rating Scale (CARS) tool showed less pronounced improvement. The REAC intervention yielded a reduction in Social Relating impairment and an improvement in Sensory/Cognitive Awareness. Further research in this area should employ extended REAC protocols to replicate and amplify clinical responses among individuals with ASD. Full article

(This article belongs to the Special Issue Mental Health and Psychiatric Disorders of Children and Adolescents)

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11 pages, 617 KB

Open AccessArticle

The Diversity of Developmental Age Gynecology—Selected Issues

by Ewa Majcherek, Justyna Jaskulska, Michalina Drejza, Katarzyna Plagens-Rotman, Karina Kapczuk, Witold Kędzia, Maciej Wilczak, Magdalena Pisarska-Krawczyk, Małgorzata Mizgier, Justyna Opydo-Szymaczek, Julia Linke, Małgorzata Wójcik and Grażyna Jarząbek-Bielecka

Pediatr. Rep. 2025, 17(5), 91; https://doi.org/10.3390/pediatric17050091 - 8 Sep 2025

Abstract

Background/Objectives: Pediatric and adolescent gynaecology addresses the distinct developmental needs of the reproductive systems of young patients. Diagnosing and treating gynaecological issues in this age group are challenging due to overlapping symptoms and the developmental stage. This study aimed to identify common gynecological [...] Read more.

Background/Objectives: Pediatric and adolescent gynaecology addresses the distinct developmental needs of the reproductive systems of young patients. Diagnosing and treating gynaecological issues in this age group are challenging due to overlapping symptoms and the developmental stage. This study aimed to identify common gynecological issues based on retrospective analysis of medical documentation from the Developmental Gynecology and Sexology Laboratory of the Gynecology Clinic, Department of Gynecology, Poznan University of Medical Sciences (UMP) from the years 2012–2023. Methods: The study involved 4942 patients under 18 years old. Medical records from the years 2012–2023 were analyzed, focusing on the most frequent diagnoses. Statistical analyses were performed using StatSoft STATISTICA PL 10 software, with a significance threshold of p < 0.05. Results: The most frequent diagnosis was pelvic pain syndrome (77.8%), followed by androgenization syndromes (13.2%). While the number of admissions remained stable over the years (r = 0.131, p > 0.05), there was a significant increase in the percentage of androgenization syndromes (p = 0.0040) and a decrease in pelvic pain syndrome cases (p = 0.0018). Other conditions such as eating disorders and psychosexual issues were also prevalent, highlighting the need for a multidisciplinary approach. Conclusions: The analysis indicates a shift in adolescent gynaecological diagnoses over time, with pelvic pain syndrome decreasing and androgenization syndromes increasing. The findings underline the importance of specialised, multidisciplinary care and further research to adapt diagnostic and therapeutic strategies to the changing landscape of pediatric gynaecology. Full article

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6 pages, 175 KB

Open AccessCase Report

Congenital Glucose–Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis

by Malika Goel, Renu Suthar and Lesa Dawman

Pediatr. Rep. 2025, 17(5), 90; https://doi.org/10.3390/pediatric17050090 - 5 Sep 2025

Abstract

A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose–galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation [...] Read more.

A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose–galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation in exon 8 of the SLC5A1 gene (c875G>A, p.Cys292Tyr). This gene codes for a sodium–glucose cotransporter called SGLT1. To date, no clinical case reports have reported hypertriglyceridemia and hypercholesterolemia with CGGM. Hypercalcemia and medullary nephrocalcinosis have also been reported only in a handful of CGGM cases worldwide. Through this case, the authors attempt to highlight the uncommon manifestation of this rare disease to facilitate timely management. Although the child died due to healthcare-associated infection (HCAI), pre-natal counseling of the family was carried out for the management of future pregnancies. Full article

9 pages, 619 KB

Open AccessCase Report

A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers–Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan–McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report

by Gassem Gohal

Pediatr. Rep. 2025, 17(5), 89; https://doi.org/10.3390/pediatric17050089 - 4 Sep 2025

Abstract

Background: The coexistence of sickle cell disease (SCD), vascular Ehlers–Danlos syndrome (vEDS), primary ciliary dyskinesia (PCD), and Phelan–McDermid syndrome (PMS) in a single pediatric patient is extremely rare and poses substantial diagnostic and management challenges. Case presentation: We report an 8-year-old male from [...] Read more.

Background: The coexistence of sickle cell disease (SCD), vascular Ehlers–Danlos syndrome (vEDS), primary ciliary dyskinesia (PCD), and Phelan–McDermid syndrome (PMS) in a single pediatric patient is extremely rare and poses substantial diagnostic and management challenges. Case presentation: We report an 8-year-old male from Jazan, Saudi Arabia, born to consanguineous parents, with early-onset SCD, followed by the identification of vEDS, PCD, and PMS through clinical presentation and whole exome sequencing. His disease course has been exceptionally severe, marked by monthly hospitalizations, multiple PICU admissions, and a wide spectrum of systemic complications. Conclusions: The coexistence of SCD, vEDS, PCD, and PMS may lead to synergistic vascular, pulmonary, and neurodevelopmental compromise, demanding multidisciplinary long-term management. This case underscores the need for a comprehensive targeted genetic assessment in patients with unusually aggressive or syndromic SCD phenotypes, particularly in regions with high levels of consanguineous marriages. Full article

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14 pages, 261 KB

Open AccessArticle

Caregiver Socio-Economic Factors and Perceived Effectiveness of Care Delivery in Relation to US Adolescent Vision Care: A Retrospective Analysis from a National Database

by Erik Miron, Nada Eldawy, Ayden Dunn, Austin Lent and Lea Sacca

Pediatr. Rep. 2025, 17(5), 88; https://doi.org/10.3390/pediatric17050088 - 31 Aug 2025

Abstract

Objective: The objective of this retrospective cross-sectional study is to explore how caregiver social determinants of health, appraisal of healthcare provider effectiveness, and insurance coverage influence caregiver ability to have their adolescent child access vision care, including completion of annual vision screening, visiting [...] Read more.

Objective: The objective of this retrospective cross-sectional study is to explore how caregiver social determinants of health, appraisal of healthcare provider effectiveness, and insurance coverage influence caregiver ability to have their adolescent child access vision care, including completion of annual vision screening, visiting an ophthalmologist or optometrist, and completion of recommended additional screenings. Study Design: We used National Survey of Children’s Health (NSCH) data for 12–17-year-old adolescents for the years 2022 and 2023 (n = 37,425). Summary statistics for the selected sample were generated and binary logistic regressions were conducted. Outcome variables were the type of vision screening that occurred or not. Covariates were socioeconomic and demographic data of the adolescent’s primary caregiver. Independent variables were insurance coverage and healthcare provider’s skill and effectiveness. Results: Significant associations were reported between visiting an ophthalmologist or optometrist and each of spending enough time with patients; listening carefully to patients; and making patients feel like care is a partnership. Additionally, significant associations were reported between insurance coverage and both successful completion of vision screening and visiting an eye doctor. Conclusions: This study underscores the substantial impact of effectiveness of eye doctors in delivering annual vision exams and insurance adequacy on adolescent vision care engagement. Our results will inform the development of future evidence-based educational interventions to raise awareness on the importance of annual vision screenings in US adolescents and emphasize the need for screening mandates to advocate for this important public health issue. Full article

7 pages, 418 KB

Open AccessCase Report

Hyperventilation Syndrome in a Child: Electrolyte Disturbances and Cardiac Involvement in Anxiety-Related Presentations

by Andrea Calandrino, Anna Carla Defilippi, Gemma Eftimiadi, Luca Antonio Ramenghi and Diego Minghetti

Pediatr. Rep. 2025, 17(5), 87; https://doi.org/10.3390/pediatric17050087 - 29 Aug 2025

Abstract

Background: Hyperventilation Syndrome (HVS) is a well-recognized physiological consequence of acute anxiety, often resulting in respiratory alkalosis and subsequent electrolyte imbalances. Among these, a reduction in ionized calcium levels can lead to neuromuscular irritability and electrocardiographic abnormalities such as QTc prolongation. Although well-documented [...] Read more.

Background: Hyperventilation Syndrome (HVS) is a well-recognized physiological consequence of acute anxiety, often resulting in respiratory alkalosis and subsequent electrolyte imbalances. Among these, a reduction in ionized calcium levels can lead to neuromuscular irritability and electrocardiographic abnormalities such as QTc prolongation. Although well-documented in specific settings, including autism spectrum disorders and drug-induced crises, such complications are rarely described in otherwise healthy pediatric patients presenting with isolated anxiety episodes. This report aims to raise awareness of anxiety-driven somatic manifestations, particularly in the context of the rising prevalence of mental health disorders among children and adolescents. Methods: We report the case of a previously healthy 10-year-old girl presenting to the emergency department with acute agitation and hyperventilation. Clinical examination revealed neuromuscular symptoms, including Trousseau’s sign and flexion posture. Initial laboratory testing and arterial blood gas analysis indicated respiratory alkalosis with decreased ionized calcium levels, and a resting ECG showed QTc prolongation (510 ms). Treatment included intravenous midazolam, a balanced electrolyte solution, and oral bromazepam during intensive observation with cardiac monitoring. Results: The patient’s symptoms progressively improved following anxiolytic and supportive therapy. Electrolyte abnormalities normalized within 48 h, with complete resolution of the prolonged QTc (430 ms). No arrhythmias or other complications occurred. Outpatient psychological follow-up was arranged upon discharge. Conclusions: This case underscores the importance of considering anxiety as a primary etiology in pediatric patients with apparent metabolic or cardiac abnormalities. Early psychiatric recognition and targeted supportive care can prevent overtreatment and reduce the burden on emergency and cardiologic resources. Full article

(This article belongs to the Special Issue Mental Health and Psychiatric Disorders of Children and Adolescents)

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14 pages, 2436 KB

Open AccessCase Report

Case Report of a Neonate with Severe Perinatal Asphyxia: A Multidisciplinary Approach Involving Therapeutic Hypothermia and Physiotherapy

by Marcelina Powązka, Maciej Grzeszczuk, Tatiana Jagodzińska, Ewa Syweńki, Rita Suchanska and Ewa Gieysztor

Pediatr. Rep. 2025, 17(4), 86; https://doi.org/10.3390/pediatric17040086 - 11 Aug 2025

Abstract

Hypoxic–ischaemic encephalopathy (HIE), a leading cause of perinatal mortality and neurological impairment, affects 1–8/1000 live births in developed countries. Therapeutic hypothermia (TH), the standard treatment for moderate to severe HIE, reduces brain injury by lowering metabolic demand and inhibiting apoptosis. This case study [...] Read more.

Hypoxic–ischaemic encephalopathy (HIE), a leading cause of perinatal mortality and neurological impairment, affects 1–8/1000 live births in developed countries. Therapeutic hypothermia (TH), the standard treatment for moderate to severe HIE, reduces brain injury by lowering metabolic demand and inhibiting apoptosis. This case study presents a full-term female newborn delivered via caesarean section due to intrauterine asphyxia, with meconium aspiration syndrome and severe HIE (Apgar 0/0/0/2). Notwithstanding the presence of multiorgan failure and grade II intraventricular haemorrhage, TH was initiated within six hours. The patient received circulatory and respiratory support, sedation, and nitric oxide. Early rehabilitation was initiated immediately. Neurofunctional assessment using the TIMP test revealed initial delays (16–25th percentile) at 11 weeks of age; however, the subsequent two evaluations, conducted approximately every two weeks, indicated that the patient was within normal developmental ranges. A similar outcome was observed in the AIMS assessment conducted at seven months of age, which also yielded normal results. Despite MRI findings post-TH showing hypoxic and haemorrhagic lesions, the patient achieved normal development. This case demonstrates the effectiveness of combining TH with early physiotherapy in mitigating severe consequences of HIE, such as cerebral palsy and epilepsy. Long-term follow-up remains crucial for detecting later deficits, particularly during school age. The outcome of this case underscores the significance of timely intervention and multidisciplinary care. While TH and rehabilitation have been shown to improve prognosis, ongoing monitoring is crucial to ensure optimal neurological development trajectories. Full article

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11 pages, 810 KB

Open AccessArticle

Percentile Distribution of Habitual-Correction Visual Acuity in a Sample of 1500 Children Aged 5 to 15 Years in Italy

by Alessio Facchin, Marilena Mazzilli and Silvio Maffioletti

Pediatr. Rep. 2025, 17(4), 85; https://doi.org/10.3390/pediatric17040085 - 11 Aug 2025

Abstract

Background: Early identification of visual disorders in children is essential to prevent long-term visual impairment and support academic development. Despite the recognized importance of visual screenings, no universal consensus exists on which visual parameters or threshold values should be used, particularly for measuring [...] Read more.

Background: Early identification of visual disorders in children is essential to prevent long-term visual impairment and support academic development. Despite the recognized importance of visual screenings, no universal consensus exists on which visual parameters or threshold values should be used, particularly for measuring visual acuity (VA) in pediatric populations. Objectives: This study aimed to develop age-related percentile norms for VA using LEA symbol charts. Methods: A sample of Italian schoolchildren aged 5 to 15 years (n = 1510) participated in the study. Data were collected retrospectively from school-based vision screenings conducted across 12 schools in the Lombardy and Piedmont regions from 2010 to 2019. Monocular and binocular VA were measured at 3 m using a standardized LEA symbol chart, and values were scored letter-by-letter on a LogMAR scale. Smoothed percentile curves were derived using Box–Cox, Cole, and Green distribution modeling and regression analysis. Results: The results showed a non-linear improvement in VA with age. Compared to prior studies, LEA symbols yielded slightly lower VA scores, reinforcing the need for chart-specific norms. The 50th percentile VA improved from approximately +0.07 LogMAR at age 6 to about −0.09 LogMAR at age 15. Conclusions: These findings highlight the importance of age-specific, chart-specific, and statistically robust reference data for VA screening in children. The derived percentile tables offer a more sensitive tool than fixed cut-offs for identifying visual anomalies and tailoring clinical interventions. This work contributes to standardizing pediatric VA screening practices and improving early detection of visual deficits. Full article

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6 pages, 1498 KB

Open AccessCase Report

A Rare Case of Aortic Dissection 10 Years Post Percutaneous Catheterization Retrieval of an Embolized PDA Device in a Patient with Down Syndrome

by Youna Park, Hong Ryang Kil, Sang Yoon Kim and Geena Kim

Pediatr. Rep. 2025, 17(4), 84; https://doi.org/10.3390/pediatric17040084 - 8 Aug 2025

Abstract

There are no recorded cases of catheter-induced aortic dissection in pediatric patients. We report a unique case of a pediatric patient with Down syndrome who developed a long-standing dissecting aortic aneurysm. The patient underwent successful stent insertion 10 years after experiencing difficulty retrieving [...] Read more.

There are no recorded cases of catheter-induced aortic dissection in pediatric patients. We report a unique case of a pediatric patient with Down syndrome who developed a long-standing dissecting aortic aneurysm. The patient underwent successful stent insertion 10 years after experiencing difficulty retrieving an embolized patent ductus arteriosus device. The Down syndrome presented a complex clinical scenario, making diagnosis challenging due to a lack of cooperation and uncertainty about when the dissection occurred, as symptoms like pain were not reported. Though rare in children, it is vital to recognize procedures such as percutaneous closure of patent ductus arteriosus followed by device retrieval as potential risk factors for aortic dissections in the pediatric population. Full article

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12 pages, 593 KB

Open AccessArticle

Metabolic Syndrome Prevalence and Its Components in Adolescents from Western Mexico

by Diego Ortega-Pacheco, Roberto Carlos Rosales-Gómez, Teresa Arcelia García-Cobián, Lidia Ariadna Rubio-Chávez, Angélica Adriana Gutiérrez-Rubio, José Hugo Rivera-Ramírez and Susan Andrea Gutiérrez-Rubio

Pediatr. Rep. 2025, 17(4), 83; https://doi.org/10.3390/pediatric17040083 - 8 Aug 2025

Abstract

Objective: To evaluate the predictive risk factors associated with the prevalence of metabolic syndrome (MetS) in adolescents from the western region of Mexico. Materials and Methods: An analytical cross-sectional study was conducted with a sample of 516 adolescents. Anthropometric data, blood pressure, and [...] Read more.

Objective: To evaluate the predictive risk factors associated with the prevalence of metabolic syndrome (MetS) in adolescents from the western region of Mexico. Materials and Methods: An analytical cross-sectional study was conducted with a sample of 516 adolescents. Anthropometric data, blood pressure, and biochemical determinations were obtained. The diagnosis of MetS was based on the criteria proposed by de Ferranti in 2004. The triglyceride–glucose index (TyG index) was calculated, where a value >4.68 indicates insulin resistance (IR). Risk factors associated with MetS were evaluated using a logistic regression model. The statistical analysis was performed with the level of statistical significance established was p < 0.05. Results: The MetS prevalence was 17.2% among adolescents. One out of every two adolescents with obesity presented with MetS. Abdominal obesity and dyslipidemia are the most common components. Predictors of MetS included male sex, early adolescence, waist-to-height ratio (WHtR) > 0.5, increased body fat percentage, and TyG Index > 4.68 (IR). In the sex-specific analysis, a WHtR > 0.5 and IR were associated with MetS in female adolescents. In male adolescents, IR and body fat percentage were associated with MetS. The WHtR was associated with IR, and hypertriglyceridemia was associated with elevated alanine aminotransferase. Conclusions: In this study, two out of ten adolescents presented with MetS. In boys, a high prevalence of abdominal obesity, hypoalphalipoproteinemia, insulin resistance and MetS was observed. The risk of developing MetS is greater in preadolescent boys with abdominal obesity, high levels of body fat, and a TyG index > 4.68. Full article

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8 pages, 1321 KB

Open AccessCase Report

Open Reduction and Internal Fixation of a Volar Displaced Salter–Harris III Mallet Fracture in a Pediatric Patient: A Case Report

by Alexander Baur, Taylor Anthony, Keith Lustig and Michael L. Lee

Pediatr. Rep. 2025, 17(4), 82; https://doi.org/10.3390/pediatric17040082 - 6 Aug 2025

Abstract

Introduction: Finger injuries are common in pediatric patients and typically heal well with conservative management. However, rare fracture patterns involving significant displacement and physeal injury, such as the one described in this case, require specialized surgical intervention to ensure proper healing and prevent [...] Read more.

Introduction: Finger injuries are common in pediatric patients and typically heal well with conservative management. However, rare fracture patterns involving significant displacement and physeal injury, such as the one described in this case, require specialized surgical intervention to ensure proper healing and prevent long-term complications. Case Presentation: A 12-year-old left-hand-dominant female presented with pain, swelling, and deformity at the distal interphalangeal (DIP) joint following hyperextension of the left fifth digit. Initial radiographs revealed a volar displaced intra-articular fracture with physis involvement, confirmed by computed tomography (CT) imaging. Conservative management with closed reduction and splinting failed to achieve adequate alignment. Surgical intervention was performed via a dorsal approach, utilizing ORIF with K-wire fixation to restore joint congruity and ensure anatomic alignment. Outcomes: Postoperative follow-up demonstrated satisfactory healing, maintained reduction, and resolution of pain with no complications. The patient regained functional use of the digit with minimal stiffness, and the growth plate remained uninvolved during the recovery period. Discussion: This case underscores the importance of advanced imaging, early referral, and tailored surgical intervention for rare mallet fractures involving volar displacement and physeal injury. ORIF provided reliable stabilization and optimal outcomes in this complex case. Conclusions: Volar displaced Salter–Harris III fractures of the DIP joint are rare and challenging injuries in pediatric patients. This case highlights the role of ORIF in achieving successful outcomes and emphasizes the importance of precise reduction and stabilization to prevent long-term complications. Full article

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14 pages, 619 KB

Open AccessArticle

Validation of Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS)-Related Pediatric Treatment Evaluation Checklist (PTEC)

by Andrey Vyshedskiy, Anna Conkey, Kelly DeWeese, Frank Benno Junghanns, James B. Adams and Richard E. Frye

Pediatr. Rep. 2025, 17(4), 81; https://doi.org/10.3390/pediatric17040081 - 28 Jul 2025

Abstract

Background/Objectives: The objective of this study was to validate a new parent-reported scale for tracking Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). PANS is a condition characterized by a sudden and severe onset of neuropsychiatric symptoms. To meet diagnostic criteria, an individual must present with [...] Read more.

Background/Objectives: The objective of this study was to validate a new parent-reported scale for tracking Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). PANS is a condition characterized by a sudden and severe onset of neuropsychiatric symptoms. To meet diagnostic criteria, an individual must present with either obsessive–compulsive disorder (OCD) or severely restricted food intake, accompanied by at least two additional cognitive, behavioral, or emotional symptoms. These may include anxiety, emotional instability, depression, irritability, aggression, oppositional behaviors, developmental or behavioral regression, a decline in academic skills such as handwriting or math, sensory abnormalities, frequent urination, and enuresis. The onset of symptoms is usually triggered by an infection or an abnormal immune/inflammatory response. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) is a subtype of PANS specifically linked to strep infections. Methods: We developed a 101-item PANS/PANDAS and Related Inflammatory Brain Disorders Treatment Evaluation Checklist (PTEC) designed to assess changes to a patient’s symptoms over time along 10 subscales: Behavior/Mood, OCD, Anxiety, Food intake, Tics, Cognitive/Developmental, Sensory, Other, Sleep, and Health. The psychometric quality of PTEC was tested with 225 participants. Results: The internal reliability of the PTEC was excellent (Cronbach’s alpha = 0.96). PTEC exhibited adequate test–retest reliability (r = 0.6) and excellent construct validity, supported by a strong correlation with the Health subscale of the Autism Treatment Evaluation Checklist (r = 0.8). Conclusions: We hope that PTEC will assist parents and clinicians in the monitoring and treatment of PANS. The PTEC questionnaire is freely available at neuroimmune.org/PTEC. Full article

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9 pages, 1860 KB

Open AccessCase Report

Eosinophilic Esophagitis in a 3-Year-Old Girl with Spinal Muscular Atrophy Type 1: The First Reported Case

by Aleksandra Marzec, Elżbieta Jarocka-Cyrta and Marta Ruskań-Bakun

Pediatr. Rep. 2025, 17(4), 80; https://doi.org/10.3390/pediatric17040080 - 28 Jul 2025

Abstract

Background: Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder characterized by progressive muscle weakness and atrophy, including the muscles of the oral cavity and esophagus. Eosinophilic esophagitis (EoE), a chronic, allergic disease, presents with eosinophilic infiltration of the esophagus, leading [...] Read more.

Background: Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder characterized by progressive muscle weakness and atrophy, including the muscles of the oral cavity and esophagus. Eosinophilic esophagitis (EoE), a chronic, allergic disease, presents with eosinophilic infiltration of the esophagus, leading to esophageal dysmotility. Feeding difficulties may occur in both conditions. So far, the coexistence of EoE and SMA1 has not been described; we present the first such case. Case presentation: The patient was a girl with SMA1 diagnosed shortly after birth, treated with nusinersen and onasemnogene abeparvovec, and fed a standard industrial diet through a gastrostomy. In her second year of life, she developed increasing symptoms: distress during feeding, regurgitation, vomiting, and weight loss. She was treated with proton pump inhibitors without clinical improvement. Gastroscopy was performed, revealing superficial epithelial damage with bleeding in the proximal esophagus. Histopathology showed chronic inflammation with up to 150 eosinophils per high-power field, microabscesses, spongiosis, and basal layer hypertrophy. The girl was diagnosed with EoE. Her diet was switched from a standard industrial formula to an amino acid-based formula, which led to marked clinical improvement, the resolution of symptoms, and appropriate weight gain. Conclusions: This case report highlights the challenges of diagnosing EoE in SMA1 patients and emphasizes the need for multidisciplinary approaches and further investigation of allergic manifestations in SMA1 patients. Full article

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18 pages, 419 KB

Open AccessSystematic Review

The Relationship with Meeting Physical Activity Guidelines in Preschool-Aged Children: A Systematic Review

by Markel Rico-González, Ursula Småland Goth, Ricardo Martín-Moya and Luca Paolo Ardigò

Pediatr. Rep. 2025, 17(4), 79; https://doi.org/10.3390/pediatric17040079 - 22 Jul 2025

Abstract

Background/Objectives: Physical activity (PA) during preschool is vital for supporting physiological development, enhancing cognitive abilities and fostering socio-emotional growth. However, consistent disparities in meeting PA guidelines have been observed. This systematic review aims to identify studies that compared preschoolers’ PA, as measured [...] Read more.

Background/Objectives: Physical activity (PA) during preschool is vital for supporting physiological development, enhancing cognitive abilities and fostering socio-emotional growth. However, consistent disparities in meeting PA guidelines have been observed. This systematic review aims to identify studies that compared preschoolers’ PA, as measured by technological devices, with recommended PA guidelines. Specifically, it examines (i) factors associated with meeting PA guidelines and (ii) the outcomes observed when children meet these guidelines. Methods: The search strategy was designed based on the PICOS framework. Then, a systematic review was conducted using four databases to identify studies that included children from 0 to 6 years old participating in PA sessions recorded through technological devices. PA is compared with guidelines, and correlations were reported. Results: Of the 52 studies reviewed, most found that meeting PA guidelines in preschool-aged children was linked to favourable outcomes across multiple domains. Children who met the guidelines tended to show better motor competence, emotional regulation and cognitive skills, particularly in areas like working memory and social understanding. However, the relationship with body composition and body mass index was inconsistent, suggesting that the benefits of PA in early childhood extend beyond weight-related measures. Conclusions: Meeting PA guidelines in early childhood is strongly associated with cognitive development, emotional regulation, motor skills and social behaviours. However, adherence varies significantly due to a complex mix of individual, familial, socioeconomic and environmental factors. Full article

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14 pages, 868 KB

Open AccessArticle

Pilot Study on the Evaluation of the Diet of a Mexican Population of Adolescents

by Karen Rubí Escamilla-Gutiérrez, Alejandra López-García, Nelly del Socorro Cruz-Cansino, José Alberto Ariza-Ortega, Eli Mireya Sandoval-Gallegos, Esther Ramírez-Moreno and José Arias-Rico

Pediatr. Rep. 2025, 17(4), 78; https://doi.org/10.3390/pediatric17040078 - 22 Jul 2025

Abstract

Background: Adolescence is characterized by physical and psychosocial changes. This implies modifying or implementing correct nutritional habits at an early age, which would have an impact on a healthy adult life. Objectives: The FFQ of dietary patterns has not been estimated in the [...] Read more.

Background: Adolescence is characterized by physical and psychosocial changes. This implies modifying or implementing correct nutritional habits at an early age, which would have an impact on a healthy adult life. Objectives: The FFQ of dietary patterns has not been estimated in the population of adolescents. Therefore, conducting a pilot, cross-sectional, comparative, and correlational study, we sought to identify frequently consumed foods in an adolescent population. Methods: As part of the methodology, a Food Frequency Questionnaire (FFQ) was given to a non-probability convenience sample of 178 subjects aged 14 to 19 years to evaluate the most frequently consumed foods. Results: This study showed that the diet of Mexican adolescents was characterized with little variability in the foods consumed: 28.20% of the population had a good consumption of milk (1 to 5 serving/day), 16.50% of sugars, and 16% of cereals, while only less than 15% had a good consumption of source animal foods, fruits and vegetables, oils, and fat. Conclusions: Mexican adolescents have demonstrated that their diet is poorly varied. Adolescence is an important period in life that can define habitual dietary intake, and therefore, it is crucial to promote healthy eating at this age. Further research and appropriate public policies are needed. Full article

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