Case Reports in Pediatrics最新文献

{"title":"Idiopathic Atrial Flutter With Tachycardia-Induced Cardiomyopathy Detected at a Routine Infant Health Checkup: A Case Report.","authors":"Toshinobu Ifuku, Fumito Wakamatsu, Keigo Nakatani","doi":"10.1155/crpe/4811651","DOIUrl":"10.1155/crpe/4811651","url":null,"abstract":"<p><p>Idiopathic atrial flutter (AFL) is an uncommon supraventricular tachyarrhythmia in early infancy. When sustained, AFL may lead to tachycardia-induced cardiomyopathy (TIC), a potentially reversible cause of ventricular dysfunction after rhythm control. We report a 3-month-old boy in whom severe TIC was detected incidentally at a routine infant health checkup despite minimal symptoms. The examining pediatrician noted persistent age-inappropriate tachycardia and referred the infant urgently. On admission, the ventricular rate fluctuated between 160 and 240 beats/min, likely reflecting variable atrioventricular conduction. Chest radiography showed marked cardiomegaly. Echocardiography revealed a severely dilated left ventricle (left ventricular end-diastolic dimension 41 mm; Z-score +7.3) with diffuse hypokinesis and markedly reduced systolic function (left ventricular ejection fraction approximately 20%), consistent with advanced TIC. Adenosine triphosphate transiently induced atrioventricular block and unmasked typical flutter waves, confirming AFL. Synchronized direct-current cardioversion (1 J/kg) immediately restored sinus rhythm, followed by standard heart failure therapy. Rapid reverse remodeling was documented quantitatively, with regression of cardiomegaly and normalization of ventricular size and function. The infant was discharged on Day 25 and remained well without recurrence at follow-up. This case highlights that AFL in infancy can be clinically subtle while causing profound TIC and underscores the importance of careful heart rate assessment during infant health supervision.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4811651"},"PeriodicalIF":0.5,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13494855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788577","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":"Conservative Management of Acute Nontraumatic Mediastinitis in Children: A Case Series.","authors":"Stacy Schertenleib, Céline Callias, Pierre Alex Crisinel, Margherita Plebani","doi":"10.1155/crpe/3863809","DOIUrl":"10.1155/crpe/3863809","url":null,"abstract":"<p><p>Acute nontraumatic mediastinitis is a rare and potentially life-threatening condition. In children, management strategies remain poorly standardized. Here, we describe four pediatric cases: two originating from cervical infections (descending necrotizing mediastinitis [DNM]) and two with indeterminate source. The first two patients presented with febrile otorhinolaryngologic symptoms, one complicated by secondary respiratory failure and the other by possibly toxin-related symptoms. The third presented with varicella and scarlet fever-like rash, complicated by multiorgan involvement secondary to a probable toxic shock syndrome. The fourth case presented with fever without focus and shoulder pain. Three patients developed secondary pleural effusions. In three cases, diagnosis was confirmed by computed tomography (CT) scan and in one case by MRI. None had necessitated surgical drainage. All patients were managed conservatively with prolonged antibiotic therapy and achieved complete recovery without sequelae. These cases suggest that, in selected pediatric patients, a conservative, antibiotic-based approach can be both safe and effective.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"3863809"},"PeriodicalIF":0.5,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13481709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788543","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":"A Novel <i>MYRF</i> Variant Presenting With Scimitar Syndrome, Hepatopulmonary Fusion, Right-Sided Congenital Diaphragmatic Hernia, and Uterine Didelphys.","authors":"Gul Sher, Samantha Weaver, Rahul Adwani, Jai Parkash Udassi","doi":"10.1155/crpe/8646210","DOIUrl":"10.1155/crpe/8646210","url":null,"abstract":"<p><p>The <i>MYRF</i> gene encodes a pleiotropic transcription factor essential for the development of multiple organ systems, including the heart, lungs, diaphragm, and genitourinary tract. Pathogenic variants in <i>MYRF</i> are associated with a multisystem disorder commonly referred to as MYRF-related cardiac-urogenital syndrome (CUGS). We describe a term female neonate with a maternally inherited likely pathogenic <i>MYRF</i> variant (c.1305_1311 + 1dup), a splice-site duplication predicted to disrupt normal gene function. The patient presented with complex congenital anomalies, including scimitar syndrome, right-sided congenital diaphragmatic hernia with hepatopulmonary fusion, pulmonary hypoplasia, and uterine didelphys. Several of these features have been individually reported in association with <i>MYRF</i>; however, uterine didelphys represents a previously unreported Müllerian duct anomaly within the MYRF-related phenotypic spectrum. The clinical course was complicated by severe pulmonary hypertension, refractory hypoxemia, and necrotizing enterocolitis, culminating in neonatal death despite aggressive medical management. This case highlights a severe neonatal presentation of MYRF-related disease in a female patient with an inherited pathogenic variant and expands the recognized phenotypic spectrum to include uterine didelphys. Recognition of sex-specific manifestations and variable penetrance in MYRF-related disorders is important for accurate diagnosis, prognostication, and genetic counseling in neonates with multisystem congenital anomalies.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8646210"},"PeriodicalIF":0.5,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13478798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788603","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":"Immediate Fluoxetine Hypersensitivity With Predominant Airway and Oropharyngeal Symptoms in an Adolescent.","authors":"Mariana Viegas, Jacinta Mendes, Sónia Lemos, Estefânia Maia, Gina Rubino","doi":"10.1155/crpe/6833218","DOIUrl":"10.1155/crpe/6833218","url":null,"abstract":"<p><p>Fluoxetine is a widely prescribed selective serotonin reuptake inhibitor in children and adolescents. Hypersensitivity reactions are rare and poorly characterized in this population. We report the case of a 17-year-old female who developed acute throat tightness with perceived oropharyngeal swelling and respiratory symptoms within 30 minutes of the first dose of fluoxetine, in the absence of cutaneous manifestations. Symptoms improved with bronchodilator therapy. Basophil activation testing demonstrated drug-induced activation, and an oral drug provocation test reproduced symptoms, confirming hypersensitivity. Previously reported pediatric cases included delayed urticaria, angioedema, and drug rash with eosinophilia and systemic symptoms. In contrast, this case highlights an immediate reaction predominantly affecting the airway. This report expands the known clinical spectrum of fluoxetine hypersensitivity reactions and emphasizes that the absence of cutaneous manifestations does not exclude drug allergy.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6833218"},"PeriodicalIF":0.5,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13478908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788601","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":"Relapsing Salmonella Meningitis in an Infant: A Case Report and Review of the Literature.","authors":"Sonia Alexiadou, Elpis Mantadakis, Ioanna Irakleidou, Stavroula Kalatzi, Eleni Myrtzaki, Evlampia A Psatha, Dimitrios Cassimos","doi":"10.1155/crpe/6662180","DOIUrl":"10.1155/crpe/6662180","url":null,"abstract":"<p><p>Accurate diagnosis of bacterial meningitis is critical, particularly in young febrile infants. Although commercially available multiplex PCR assays enable rapid pathogen detection, these typically do not include <i>Salmonella</i> spp. or other Enterobacteriaceae, which may result in missed diagnoses and/or inappropriate treatment duration. We report the case of a 2-month-old female infant with <i>Salmonella enteritidis</i> meningitis and concurrent bacteremia. The patient initially presented with fever, lethargy, and a bulging anterior fontanelle. Cerebrospinal fluid (CSF) analysis was highly suggestive of bacterial meningitis. However, both CSF culture and the FilmArray ME Panel were negative, likely due to prior empirical antibiotic therapy at another hospital. The causative organism was isolated on blood cultures. The infant was treated with intravenous ceftriaxone for 24 days and discharged in excellent clinical condition. Twelve days later, she was readmitted with a relapse of meningitis and bacteremia caused by the same pathogen. She received combination therapy with cefotaxime and cotrimoxazole for 37 days, followed by cefotaxime monotherapy for another 26 days. Immunological evaluation, including assessment of immunoglobulin levels, lymphocyte subsets, and interferon-γ receptor and Interleukin-12 receptor expression, was normal. The patient had a favorable outcome with complete clinical and laboratory recovery and a normal neurodevelopmental outcome at follow-up. <i>Salmonella</i> meningitis is a rare but life-threatening condition in infants, which may be overlooked when relying on molecular diagnostic panels that do not include this pathogen. Negative CSF PCR results should be interpreted with caution in the presence of typical cytological and biochemical findings of bacterial meningitis. Prolonged antimicrobial therapy of at least 4-6 weeks is essential to prevent relapse and ensure optimal microbiologic and clinical outcomes.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6662180"},"PeriodicalIF":0.5,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13478797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788574","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":"Infusion-Site MSSA as the Source of Confirmed Toxic Shock Syndrome in a 9-Year-Old on Automated Insulin Delivery System: A Case Report.","authors":"Fabio Rotondo, Sofia Siena, Carmela De Meco, Pasquale Maccarone, Morena Mansueto, Maria Rosa Pastore, Irene Rutigliano","doi":"10.1155/crpe/5429201","DOIUrl":"10.1155/crpe/5429201","url":null,"abstract":"<p><p>Staphylococcal toxic shock syndrome is a rare toxin-mediated illness. A 9-year-old girl on automated insulin delivery presented with shock, multiorgan dysfunction, rash, and gastrointestinal symptoms. An infected infusion site grew methicillin-susceptible <i>Staphylococcus aureus</i>. She met CDC criteria for TSS, highlighting infusion sites as sepsis foci and supporting continuation of automated insulin delivery during critical illness.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5429201"},"PeriodicalIF":0.5,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13455039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705532","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":"First Report on Neonatal Isolated Submandibular Suppurative Sialadenitis in Preterm Triplet Girls.","authors":"Patrick Morhart, Sergio Antonio Maravilla-Galdamez, Petros Strempas, Thomas Bollinger, Thomas Kienbaum, Heidi Weberruß","doi":"10.1155/crpe/4240104","DOIUrl":"10.1155/crpe/4240104","url":null,"abstract":"<p><p>Neonatal isolated submandibular suppurative sialadenitis (NISSS) is a rare condition. We present a case of NISSS caused by <i>Staphylococcus aureus</i> (<i>S. aureus</i>) in premature triplet girls born at 28 + 1 weeks of gestation. Mother's milk culture tested positive for <i>S. aureus</i>, which is presumed to be the potential contributing factor of the infection. The first symptoms appeared in one of the girls at 31 days of age, followed by her sisters at 34 and 36 days of age, respectively. A search of the PubMed/Medline, ScienceDirect and Web of Science databases revealed that this is the first reported case of NISSS in triplets. We defined risk factors like an immature immune system, prolonged orogastric feeding and antidiuretic therapy for developing NISSS in neonates.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4240104"},"PeriodicalIF":0.5,"publicationDate":"2026-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13451618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148696908","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":"A Case Report of Hematemesis in a 4-Week-Old Neonate: Clinical Reasoning and Outcome After Empiric Acid Suppression.","authors":"Nora Lyang, Daisy Ward, Amy Phu, Yadira Arguelles, Thiagarajan Nandhagopal","doi":"10.1155/crpe/6283741","DOIUrl":"10.1155/crpe/6283741","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal hematemesis is an uncommon presentation with a broad differential diagnosis ranging from benign to life-threatening etiologies, and there are no well-established, evidence-based management guidelines. This case highlights the diagnostic challenges and potential role of empiric acid suppression in a clinically stable neonate.</p><p><strong>Cases presentation: </strong>A 4-week-old term male with a prior episode of coffee-ground emesis at 3 days of life presented with recurrent hematemesis consisting of bright red blood. He was hemodynamically stable with an unremarkable physical exam. Laboratory evaluation demonstrated stable hemoglobin, mildly elevated bilirubin, and no evidence of coagulopathy. Imaging, including abdominal ultrasound and radiographs, was unremarkable. Infectious and hematologic workups were negative. Esophagogastroduodenoscopy revealed superficial gastric mucosal abrasions without active bleeding, ulcers, or structural abnormalities. The patient was managed initially with intravenous acid suppression and supportive care, and then transitioned to oral lansoprazole. He tolerated feeds without recurrence of hematemesis and was discharged with a 14-day course of proton pump inhibitor therapy. At two-week follow-up, he remained asymptomatic with normal feeding and no further bleeding episodes.</p><p><strong>Conclusion: </strong>This case underscores the importance of systematic evaluation in neonatal hematemesis and suggests that empiric proton pump inhibitor therapy may be a reasonable option in select stable patients with suspected mucosal injury.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6283741"},"PeriodicalIF":0.5,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13434023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148673018","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":"Obstructive Cholestasis in IL12RB1 Deficiency: A Case Report of an Unusual Hepatobiliary Presentation in Mendelian Susceptibility to Mycobacterial Disease.","authors":"Nabeel Ahmad, Hooria Rehman, Muhammad Huzaifa Ameer, Syed Junaid Haide, Umer Abdullah, Bilal Aslam, Muneeb Saifullah, Hamza Aka Khail","doi":"10.1155/crpe/8888681","DOIUrl":"10.1155/crpe/8888681","url":null,"abstract":"<p><p>While <i>IL12RB1</i> deficiency is classically associated with susceptibility to mycobacterial and <i>Salmonella</i> infections, its clinical spectrum may be broader than currently documented literature. Timely recognition of atypical pleiotropic presentations can contribute to earlier diagnosis, more tailored interventions, and eventually better patient outcome. However, current literature lacks reports of hepatic involvement such as biliary strictures or intrahepatic cholestasis in <i>IL12RB1</i>-deficient patients. This case exemplifies the diagnostic odyssey of a child with a rare genetic anomaly manifesting as two seemingly unrelated pathophysiologies; the diagnosis was established through genetic testing after exhaustive evaluation excluded infectious, metabolic, and autoimmune etiologies. This case raises the possibility of atypical hepatobiliary manifestations associated with <i>IL12RB1</i> deficiency. Early genetic testing should be integrated into the diagnostic pathways with undiagnosed cholestasis, and clinicians should remain vigilant for systemic manifestations beyond the classical infectious profile.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8888681"},"PeriodicalIF":0.5,"publicationDate":"2026-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13429881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668595","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":"Phenotypic Variability in Vitamin D-Dependent Rickets Type 1a: A Case Report of Two Children With the Same CYP27B1 Mutation.","authors":"Ali Saleh Alquraishi","doi":"10.1155/crpe/5823067","DOIUrl":"10.1155/crpe/5823067","url":null,"abstract":"<p><strong>Background: </strong>Vitamin D-dependent rickets Type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in CYP27B1, resulting in impaired renal 1α-hydroxylation of 25-hydroxyvitamin D. The consequent deficiency of active vitamin D disrupts calcium-phosphate homeostasis and causes rickets. Although VDDR1A is monogenic, clinical severity may vary considerably even among patients with the same mutation.</p><p><strong>Case presentation: </strong>We describe two unrelated Saudi boys with genetically confirmed VDDR1A who both harbored the same homozygous CYP27B1 c.1286G > C (p.Arg429Pro) variant but exhibited markedly different clinical courses. The first child presented at 7 months of age with hypocalcemic seizures and classical radiographic features of rickets but preserved growth. Early initiation of alphacalcidol and calcium supplementation was associated with biochemical improvement, resolution of seizures, and favorable clinical recovery by 2.5 years of age. In contrast, the second child was diagnosed at 16 months after developmental delay, recurrent respiratory infections, growth failure, and early skeletal deformities. Long-term follow-up into adolescence revealed severe bowing deformities, kyphoscoliosis, osteopenia, and healed fractures in the setting of delayed diagnosis and inconsistent treatment adherence, despite receiving the same therapy.</p><p><strong>Conclusion: </strong>These cases highlight substantial phenotypic variability in VDDR1A even in children harboring the same CYP27B1 mutation. Early recognition and sustained treatment with active vitamin D therapy are crucial to prevent severe skeletal complications and optimize growth, particularly in populations with high rates of consanguinity.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5823067"},"PeriodicalIF":0.5,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13425415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148652845","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}