Clinical Medicine Insights-Pediatrics最新文献

{"title":"An Adolescent With a Granular Cell Bronchogenic Tumor: A Rare Case Report and Review of the Literature.","authors":"Irmak Tanal Şambel, Abdurrahman Erdem Başaran, Betül Bankoğlu Parlak, Didar Ağca Cengiz, İrem Hicran Özbudak, Ayşen Bingöl","doi":"10.1177/11795565251366784","DOIUrl":"10.1177/11795565251366784","url":null,"abstract":"<p><p>Primary pulmonary tumors are rare in pediatric patients, and benign types are more frequently observed than malignant ones. Granular cell tumors (GCTs), of neuroectodermal origin, are uncommon in the lungs and especially rare in children. We report a case of a 16-year-old female with persistent respiratory symptoms initially diagnosed as asthma, who was ultimately found to have a bronchial granular cell tumor. The diagnosis was confirmed histopathologically, and the lesion was removed via rigid bronchoscopy. We also provide a review of the literature focusing on pediatric pulmonary GCTs. Granular cell tumors should be considered in the differential diagnosis of adolescents with persistent respiratory symptoms unresponsive to medical therapy. Early imaging and bronchoscopy can assist in timely diagnosis and lung-sparing treatment.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251366784"},"PeriodicalIF":1.2,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145041638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adolescent Gluteal Cleft Pathologies Not Due to Pilonidal Disease: A Case Series and Diagnostic Algorithm.","authors":"Pamela Emengo, Claire Abrajano, Bill Chiu","doi":"10.1177/11795565251366775","DOIUrl":"10.1177/11795565251366775","url":null,"abstract":"<p><strong>Background: </strong>Problems of the gluteal cleft are often due to pilonidal disease, but at times need to be distinguished from other diseases. We reported a series of adolescent patients with non-pilonidal gluteal cleft pathologies.</p><p><strong>Methods: </strong>We performed a retrospective review of all patients who presented to our pediatric Pilonidal Clinic from 1/2019 to 12/2023. Patients who received a work-up for diseases separate from pilonidal disease were included in our study. Patient demographics, clinical work-up, and treatment outcomes were recorded.</p><p><strong>Results: </strong>We identified 21 patients who had diagnoses other than pilonidal disease: 4 patients had neurological diseases (schwannoma, central disk protrusion, arachnoid cyst, Tarlov cyst); 7 patients had dermatological diseases (folliculitis, moisture-associated skin damage); 5 patients had inflammatory bowel disease; 4 patients had sacral dimples; and 1 patient had a sacral pressure ulcer. Diagnostic decisions were based on the presence and location of an open wound, history of immobility, presence of gluteal cleft swelling or pit, clinical symptoms of pain or erythema, and other similar lesions on the body. These characteristics were utilized to differentiate the diagnoses and construct a diagnostic algorithm.</p><p><strong>Conclusions: </strong>We developed a practical diagnostic algorithm for differentiating gluteal cleft pathologies in adolescents, including dermatologic, colorectal, neurologic, and traumatic causes.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251366775"},"PeriodicalIF":1.2,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12374114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disrupted Life Meaning: Humanistic Psychology and Autoethnographic Analysis of Hospital Clown Interventions with an Adolescent with Cancer.","authors":"Inês Peceguina, Iêda Alcântara, António-José González","doi":"10.1177/11795565251348333","DOIUrl":"10.1177/11795565251348333","url":null,"abstract":"<p><strong>Background: </strong>This qualitative study investigates the impact of hospital clown interventions on the well-being of an adolescent girl undergoing cancer treatment, focusing on the connections formed and the transformation of the hospital environment.</p><p><strong>Objectives: </strong>The study aims to analyze the reflective narratives of hospital clown artists who interacted with a 14-year-old girl over a year, using a humanistic psychology framework and autoethnography to understand the quality and impact of their relationship.</p><p><strong>Design: </strong>A qualitative research design was employed, utilizing autoethnographic methods.</p><p><strong>Methods: </strong>Content analysis was conducted on the clowns' narratives to explore the evolving relationships between the clowns, the adolescent patient (Maria), and her mother, Teresa.</p><p><strong>Results: </strong>The study highlights the profound impact of meaningful human connection facilitated by hospital clowns, demonstrating their ability to create a supportive and joyful environment for the patient and her family. Key themes identified include connection and identity, joy amidst adversity, rituals of connection, grief and loss, and legacy and memory.</p><p><strong>Conclusions: </strong>The findings suggest that hospital clown interventions can transform a clinical hospital environment into a space of joy, connection, and shared humanity. These interactions meet the emotional and psychological needs of young patients dealing with cancer, emphasizing the importance of human connection in navigating disruptive illnesses.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251348333"},"PeriodicalIF":1.2,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and Predictors of Diabetic Keto-acidosis Among Children Under 15 Years At Central Ethiopia Public Hospital A Retrospective Cohort Study.","authors":"Sisay Foga Sebro, Sentayehu Admasu Saliya, Taye Mezgebu Ashine, Asnakech Zekiwos Heliso, Habtamu Demisse Dodo, Kinfemicheal Melaku Gebre, Micheal Geletu Alaro, Seifu Awgchew Mamo, Bethelhem Biranu Muluneh, Temesgen Kechine Tibore, Getachew Ossabo Babore, Elias Nigusu Abdisa","doi":"10.1177/11795565251349122","DOIUrl":"10.1177/11795565251349122","url":null,"abstract":"<p><strong>Background: </strong>Diabetic ketoacidosis (DKA) is the most serious acute complication of type 1 diabetes mellitus. pediatrics with an incidence rate of 1% to 10% per patient, children have the possibility of dying due to cerebral edema and have significant mortality and morbidity. Diabetic ketoacidosis is unfortunately becoming more common in African nations due to insufficient public healthcare systems.</p><p><strong>Objective: </strong>The objective is to assess the Incidence and Predictors of Diabetic Keto-acidosis Among Children Under 15 Years At Central Ethiopia Public Hospital in A Retrospective Cohort Study 2022.</p><p><strong>Methods: </strong>Wachemo University Specialized Hospital in Hadiya Zone, central Ethiopia, recruited 390 children with diabetes mellitus.</p><p><strong>Design: </strong>It is a retrospective cohort study. The time frame for the study was January 1, 2018, through December 30, 2021. Predictors of diabetic ketoacidosis were examined using the Cox proportional hazard model. In the end, the Cox-regression hazard model contained predictors whose hazard ratio, 95% confidence interval (CI), and <i>P</i>-value were less than .25 in the bivariable analysis. Statistically significant at a <i>P</i>-value of less than .05.</p><p><strong>Result: </strong>A total of 378 child records were examined, yielding a 96.92% response rate. 207 (54.8%) of the 378 recruited children experienced DKA, with a mean follow-up period of 20.83 months and a 95% CI = (49.72, 59.80; 19.54, 22.12). In the cohort, there were 26 incidences of DKA for every 1000 children per month. The following factors were reported to be substantially linked with diabetic ketoacidosis: age <5 years AHR = 2.5 (1.61-3.86), living in a rural location AHR = 1.48 (1.02-2.16), co-morbidity AHR = 1.51 (1.10-2.08), and missed DM follow-up AHR = 1.6 (1.17-2.18).</p><p><strong>Conclusion: </strong>In this study, the incidence of diabetic ketoacidosis was seen in over half of the children. Intervention strategies and early patient identification at risk for this increased incidence of diabetic ketoacidosis.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251349122"},"PeriodicalIF":1.2,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.","authors":"Abdelrahim A Sadek, Mohammed A Aladawy, Tarek Mm Mansour, Mohammed Fawzy Fouad, Rofaida M Magdy, Mohamed Mohamed Elmoursy, Elsayed Abdelkreem","doi":"10.1177/11795565251348345","DOIUrl":"10.1177/11795565251348345","url":null,"abstract":"<p><p>MEGDEL syndrome is a rare autosomal recessive disease characterized by 3-methylglutaconic aciduria, deafness-dystonia, hepatopathy, encephalopathy, and leigh-like syndrome, which results from biallelic pathogenic variants in <i>SERAC1</i> gene. The diagnosis is commonly challenging due to the diverse clinical manifestations. Herein, we report the first case of MEGDEL syndrome from the Egyptian population. This is a 7-year-old boy born to first cousins Arab parents from Egypt with family history of unexplained deaths of 3 siblings during the neonatal period. He presented with developmental regression since the age of 2 years resulting in marked muscle weakness with no head support, generalized spasticity more prominent in lower limbs, and aphonia, but intact hearing. The child had excessive urinary excretion of 3-methylglutaconic acid, and his brain magnetic resonance imaging showed characteristic basal ganglia affection with \"Putaminal eye sign.\" Whole-exome sequencing demonstrated a likely pathogenic homozygous c.1404-2A>G variant in <i>SERAC1</i> gene. This report expands the epidemiological and phenotypic spectrum of MEGDEL syndrome by reporting the first case from the Egyptian population who had relatively delayed onset and no evident hepatopathy or deafness.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251348345"},"PeriodicalIF":1.2,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Analysis of the Etiology and Treatment of Ralstonia pickettii Bloodstream Infection in 2 Critically Ill Patients: A Case Report Highlighting an Emerging Pediatric Pathogen.","authors":"Moiz Ahmed Khan","doi":"10.1177/11795565251351808","DOIUrl":"10.1177/11795565251351808","url":null,"abstract":"<p><p><i>Ralstonia pickettii</i> are gram-negative bacilli primarily responsible for opportunistic nosocomial infections in immunocompromised patients. Outbreaks involving use of contaminated medical solutions as well as sporadic cases of meningitis, nosocomial pneumonia, infective endocarditis, and central line-associated bloodstream infection (CLABSI), have been reported in the past. Treatment is still not well-defined owing to its varied susceptibility to commonly used antibiotics, particularly carbapenems and aminoglycosides. The author reports 2 cases of CLABSI with <i>R. pickettii</i>, in pediatric patients from a tertiary care hospital in Karachi, Pakistan. First case was of a 12-day-old male with Atrial Septal Defect and Patent Ductus Arteriosus, who had a peripherally Inserted central catheter (PICC) placed to facilitate nutrition. Second case was of a 7-year-old male with known B-cell acute lymphoblastic leukemia (B-ALL), with PICC line in place for treatment. The antimicrobial susceptibility pattern of both isolates revealed resistance to aminoglycosides and meropenem, whereas trimethoprim-sulfamethoxazole was susceptible, paving the way for successful management in both cases and potentially serving as a valuable option against multidrug-resistant <i>R. pickettii</i> strains. To address these emerging pathogens, it is critical to implement a customized antibiotic policy and adhere to antimicrobial stewardship recommendations and infection control protocols.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251351808"},"PeriodicalIF":1.2,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Dental Caries Risk in Relation to Fingerprint Pattern in Children With Hearing Impairment: A Preliminary Study.","authors":"Maria Moin, Afsheen Maqsood, Maliha Arshad, Rabbia Imtiaz, Laiba Mubashir, Muhammad Qasim, Dua Yousufi, Seyed Ali Mosaddad, Artak Heboyan, Gotam Das, Naseer Ahmed","doi":"10.1177/11795565251348334","DOIUrl":"10.1177/11795565251348334","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study was to assess the risk of dental caries in relation to fingerprint patterns in children with hearing impairment.</p><p><strong>Methods: </strong>This study involved 373 children selected from 3 different schools of children with hearing impairment. Dental caries status was recorded using the DMFT index. Participants were then categorized into 3 distinct groups. Dermatoglyphic patterns on all 10 palmar digits of each individual were recorded using the Cummins and Midlo method. The patterns were analyzed using a magnifying lens (X2 magnification).</p><p><strong>Results: </strong>The gender distribution among the participants was 54.2% male and 45.8% female. The average age of the participants was 14.19 ± 2.146 years. In terms of communication methods, the majority of participants (95.4%) used sign language, while a small percentage (3.2%) relied on lip reading, and only 1.3% used a hearing aid.</p><p><strong>Conclusions: </strong>No single fingerprint pattern demonstrated a significant predominance associated with dental caries incidence in the study.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251348334"},"PeriodicalIF":1.2,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Sepsis: Prevalence and Contributing Factors Among Neonates Admitted to the Special Care Unit at Kawempe National Referral Hospital, Kampala, Uganda.","authors":"Shallon Kembabazi, Nelson Ssewante, Gerald Ssebatta, Germaine Uwiduhaye, Lilian Ihirwe, Angelique Iradukunda, Victor Musiime","doi":"10.1177/11795565251345596","DOIUrl":"10.1177/11795565251345596","url":null,"abstract":"<p><strong>Background: </strong>Despite recent declines in under-5 mortality, neonatal sepsis rates remain high, especially in low- and middle-income countries. This study examined the prevalence and risk factors of neonatal sepsis at Kawempe National Referral Hospital (KNRH), Uganda's primary maternal and neonatal care centre.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted in KNRH's special care unit from October 2021 to December 2021. Sociodemographic and clinical data were collected from mothers and patient case records of consecutively sampled neonates using an interviewer-administered electronic questionnaire. Neonatal sepsis was defined based on diagnosis in the patient case record, regardless of bacteriological confirmation, and classified as early-onset (diagnosed within 72 hours) or late-onset (after 72 hours). Logistic regression was used to identify factors associated with neonatal sepsis.</p><p><strong>Results: </strong>Out of 265 neonates enrolled, 56.8% were boys with a median age of 4 days (interquartile range = 2-7). Half (51.1%) were born pre-term, and most (71.3%) were delivered vaginally. Hospital deliveries were predominant (70.9%), while 25.7% occurred in peripheral clinics and 3.4% at home. One-third of the mothers reported experiencing fever (pyrexia) around the time of delivery. The prevalence of neonatal sepsis was 35.8%, with 62.1% of the cases being late-onset. Significant factors associated with neonatal sepsis included delivery from a peripheral clinic (aOR = 2.2, 95% CI = 1.2-4.1, <i>P</i> = .010), maternal perinatal pyrexia (aOR = 3.4, 95% CI = 1.8, 6.3, <i>P</i> < .001), meconium stained liquor (aOR = 2.4, 95% CI = 1.3, 4.6, <i>P</i> = .005), poor cord care (aOR = 7.4, 95% CI = 1.3, 42.3, <i>P</i> = .025), and prelacteal feeding (aOR = 3, 95% CI = 1.4, 6.7, <i>P</i> = .007) while neonates delivered by caesarean section (aOR = 0.4, 95% CI = 0.2, 09, <i>P</i> = .02) and those who initiated breastfeeding in the first hour of life (aOR = 0.1, 95% CI = 0.1, 0.2, <i>P</i> < .001) were associated with lower chances of getting neonatal sepsis.</p><p><strong>Conclusions: </strong>The prevalence of neonatal sepsis at KNRH is high, with the majority of cases being late-onset. Mothers should be educated on treating fevers early during pregnancy, and antenatal care should focus on hygiene, sanitation, and nutrition. Strengthening infection prevention and control practices in health facility settings could reduce late-onset neonatal sepsis, especially in peripheral clinics.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251345596"},"PeriodicalIF":1.2,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report.","authors":"Nadine Yazbeck, Rima Hanna-Wakim, Dolly Noun, Pascale E Karam","doi":"10.1177/11795565251340558","DOIUrl":"10.1177/11795565251340558","url":null,"abstract":"<p><p>Congenital bile acid synthesis disorder type 1 is an extremely rare disease with around 100 cases identified worldwide. Diagnosis remains challenging for pediatricians in view of the non-specific, variable clinical presentations of cholestasis, fat malabsorption, and liver cirrhosis. Early diagnosis and therapy with cholic acid are crucial to reverse the hepatopathy and prevent fatal outcomes. This paper sheds light on the diagnostic challenges of congenital bile acid synthesis disorder type 1 in a patient with an unusual presentation and a previously unreported mutation in the HSD3B7 gene. Moreover, this report aims to increase awareness of this treatable disorder among pediatricians. A 4-year-old child presented to our Medical Center with splenomegaly, fever, multiple lymphadenopathies, and mild cholestasis without hepatomegaly. History was remarkable for recurrent infections since the age of 3 years. Differential diagnosis included viral infections, malignancies, and inherited metabolic disorders. After an extensive negative work-up, genetic testing by next-generation sequencing identified a previously unreported homozygous disease-causing variant in the HSD3B7 gene, confirming the diagnosis of congenital bile acid synthesis disorder type 1. Suggestive abnormal urinary bile acids metabolites were also identified. Bile acid replacement therapy was initiated with reversal of cholestasis. This case highlights an unusual phenotypic presentation and the diagnostic challenges of an extremely rare disorder of bile acid synthesis. An increased awareness among pediatricians and the use of next-generation sequencing as a first-tier test in the setting of non-specific clinical presentations may shortcut the list of extensive investigations, allowing an early diagnosis of such treatable disorders, thus improving the patients' outcomes.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251340558"},"PeriodicalIF":1.2,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12344235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144849321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.","authors":"Misha Khan, Mufliha Ibrahim, Farhana Riaz, Zainab Awan, Eeshal Zulfiqar, Akash Kumar, Ahmed Sermed Al Sakini, Tariq Mahmood Khan, Ali Saad Al-Shammari","doi":"10.1177/11795565251337900","DOIUrl":"10.1177/11795565251337900","url":null,"abstract":"<p><p>Infantile-onset Pompe disease (IOPD) is a rare genetic disorder associated with a deficiency of a lysosomal enzyme, the acid alpha-glucosidase. It is characterized by the accumulation of lysosomal and non-lysosomal-bound glycogen in various organs, such as the heart, skeletal muscle, and brain tissue, resulting in muscle weakness, hypertrophic cardiomyopathy, respiratory insufficiency, and other complications. Without treatment, IOPD has a very high mortality rate, with patients dying within the first year of life. Over the past few decades, significant therapeutic advancements have been made to improve the prognosis and quality of life for IOPD patients. Enzyme replacement therapy (ERT) with recombinant human GAA has been the cornerstone of treatment, demonstrating efficacy in prolonging survival and reducing cardiac hypertrophy. However, ERT has limitations, including the development of immune responses, inconsistent skeletal muscle uptake, and the inability to cross the brain barrier. Recent research has focused on enhancing ERT through adjunctive therapies such as immune modulation, gene therapy, and chaperone-mediated approaches to improve enzyme delivery and function. Additionally, advancements in early diagnosis, including newborn screening, have enabled timely intervention, which is crucial for better outcomes. This review comprehensively examines the current therapeutic strategies for IOPD, their efficacy, challenges, and future directions for managing this disease.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":"19 ","pages":"11795565251337900"},"PeriodicalIF":1.2,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12340210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}