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Pediatr. Rep., Volume 17, Issue 5 (October 2025) – 5 articles

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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 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

Viewed by 174

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 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

Viewed by 215

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 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

Viewed by 285

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 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

Viewed by 406

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 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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