Case Reports in Pediatrics最新文献

{"title":"Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings.","authors":"Danilo de Assis Pereira, Rafael Saliba Helmer, Matheus Luis de Souza Silva, Lisiane Seguti Ferreira","doi":"10.1155/crpe/4543154","DOIUrl":"10.1155/crpe/4543154","url":null,"abstract":"<p><strong>Background: </strong>Mutations in the KCNQ3 gene are primarily associated with benign familial neonatal epilepsy; however, recent studies have expanded its phenotypic spectrum to include developmental and epileptic encephalopathies (DEE) and neurodevelopmental disorders, including autism spectrum disorder (ASD). This report describes an atypical presentation of a patient with a de novo KCNQ3 mutation, manifesting as neonatal-onset epilepsy, ASD traits, and abnormal neuroimaging findings, contributing to the evolving understanding of KCNQ3-related disorders.</p><p><strong>Case presentation: </strong>A 5-year-old boy presented with neonatal seizures that initially responded to antiepileptic therapy but subsequently relapsed with atypical, drug-resistant seizures. Neurodevelopmental assessment revealed moderate intellectual disability, ASD features, and speech delay. Brain MRI showed hippocampal asymmetry and diffuse enlargement of perivascular spaces, raising questions about potential structural correlates of genetic epilepsies. Whole-exome sequencing identified a de novo heterozygous KCNQ3 variant, absent in both parents.</p><p><strong>Discussion: </strong>This case highlights the expanding phenotypic variability of KCNQ3 mutations, supporting their role in epileptic encephalopathies and neurodevelopmental disorders. While previous reports primarily associate KCNQ3 mutations with early-onset epilepsy, this case suggests a broader neurodevelopmental impact, including ASD traits and neuroimaging abnormalities, emphasizing the importance of genetic screening in complex epilepsy syndromes. Additionally, the hippocampal asymmetry and prominent perivascular spaces warrant further investigation into their relevance in KCNQ3-related disorders.</p><p><strong>Conclusion: </strong>This study expands the clinical and neuroimaging spectrum of KCNQ3-related epileptic encephalopathy, reinforcing its association with neurodevelopmental comorbidities. Early genetic diagnosis may guide treatment choices and provide valuable prognostic insights, advocating for a multidisciplinary approach in managing these patients.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4543154"},"PeriodicalIF":0.5,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13239457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197186","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":"Multiple Furuncular Cutaneous Myiasis in a 4-Month-Old Infant in an Urban Setting: A Case Report From Cameroon.","authors":"Isabelle Mekone Nkwele, Géraldine Lynn Ewane Ngole, Christelle Nadia Mpah Edimo, David Chelo","doi":"10.1155/crpe/9016315","DOIUrl":"10.1155/crpe/9016315","url":null,"abstract":"<p><p>Furuncular cutaneous myiasis is a parasitic infestation of the skin by dipteran larvae, commonly reported in tropical Africa, and underreported in infants. We report the case of a 4-month-old male infant from Yaoundé, Cameroon, who presented with incessant crying and a rapidly progressive skin eruption over 4 days. Examination revealed multiple inflammatory nodules at varying stages of development; serous fluid was observed exuding from a central punctum, with intermittent larval movement. Environmental history identified risk factors, including poor household hygiene, drying clothes in shaded areas or indoors, infrequent ironing, and high fly density. The diagnosis was established clinically and confirmed by manual extraction of larvae, consistent with <i>Cordylobia anthropophaga</i> based on clinical and epidemiological features, although no entomological confirmation was performed. Treatment consisted of gentle extraction, local antiseptic baths, and topical antibiotic ointment. Clinical evolution was favorable, with rapid resolution of symptoms following extraction, no emergence of new lesions, and complete healing within 3 months, leaving mild postinflammatory hyperpigmentation and small atrophic scars. This case is remarkable for the high burden of lesions, occurrence in an urban environment, and the young age of the patient. It highlights the importance of considering myiasis in the differential diagnosis of nodular eruptions in infants in endemic areas and emphasizes preventive measures such as proper drying and ironing of clothes and reducing fly exposure.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9016315"},"PeriodicalIF":0.5,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148136765","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":"Visual Dermatologic Case Report: Juvenile Xanthogranuloma of the Labia Majora in a Pediatric Patient.","authors":"Kelly Frasier, Silvija P Gottesman, Pooja R Shah","doi":"10.1155/crpe/8841595","DOIUrl":"10.1155/crpe/8841595","url":null,"abstract":"<p><p>Juvenile xanthogranuloma (JXG), the most common non-Langerhans cell histiocytosis of childhood, typically presents as a benign, self-limited cutaneous nodule on the head, neck, or trunk during early infancy. Genital involvement is exceedingly rare and poses distinct diagnostic challenges due to anatomic concealment and a broad differential diagnosis. A 5-year-old female presented with a solitary, well-demarcated, tan-brown, firm, dome-shaped papule on the left labia majora that had been intermittently pruritic for approximately 1 month. Dermoscopic evaluation revealed a yellow hue, prompting referral for excisional biopsy. Histopathologic examination demonstrated a dense dermal infiltrate of foamy histiocytes with characteristic Touton giant cells and associated lymphocytes and eosinophils, without cytologic atypia or malignant features, confirming JXG. The patient's dermatologic history included chronic atopic dermatitis, severe xerosis, pityriasis alba, and a stable café-au-lait patch, suggesting an underlying inflammatory cutaneous milieu. No additional lesions or systemic symptoms were identified. Ophthalmologic screening was performed in accordance with established recommendations and was unremarkable. Surgical excision was both diagnostic and curative, with no recurrence on follow-up. This case highlights a rare vulvar presentation of JXG and emphasizes the importance of maintaining diagnostic vigilance for histiocytic disorders in pediatric patients with isolated, persistent dermal papules in uncommon locations. Visual documentation of this entity expands the recognized morphologic and anatomic spectrum of JXG, reinforces the role of biopsy in diagnostically uncertain genital lesions, and facilitates timely reassurance, appropriate surveillance, and prevention of unnecessary intervention.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8841595"},"PeriodicalIF":0.5,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13240456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197267","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":"Management of <i>Coxiella burnetii</i> Endocarditis in a Child With Congenital Heart Disease.","authors":"Emilija Zimnickaite, Andrea Dulcey, Christoph Aebi, Andrea Duppenthaler, Nina Schöbi, Fabienne Stoller, Florian Arndt, Philipp K A Agyeman","doi":"10.1155/crpe/8653626","DOIUrl":"10.1155/crpe/8653626","url":null,"abstract":"<p><p>A 6-year-old male patient with pulmonary atresia and recent valve replacement with a Melody valve presented with a 6-week history of fever and cough. He was diagnosed with <i>Coxiella burnetii</i> endocarditis based on a <i>C. burnetii</i> Phase I IgG antibody titre of 1:65,536 and increased metabolic activity surrounding his prosthetic cardiac valve on positron emission tomography scan. Treatment was initiated with doxycycline and hydroxychloroquine. However, despite dose escalation, target plasma concentrations were not achieved. The patient experienced rapid clinical improvement, and serological markers declined gradually. Antimicrobial therapy was discontinued after 40 months, as predefined serological criteria were met, clinical course was favourable, and a follow-up positron emission tomography scan demonstrated a significant reduction in metabolic activity around the prosthetic valve. Up to 23 months after cessation of therapy, the patient showed no evidence of active <i>C. burnetii</i> endocarditis during follow-up. The Melody valve maintained its function, and valve replacement was not required. Clinicians should employ an individualised treatment approach to children with <i>C. burnetii</i> endocarditis.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8653626"},"PeriodicalIF":0.5,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148136800","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 Rare Case of Cow's Milk Protein Allergy in a 12-Hour Old Neonate With Rectal Bleeding.","authors":"Isona Kakuchi, Alexa Giroud Rivier, Estelle Dubruc, Céline J Fischer Fumeaux, Sébastien Joye","doi":"10.1155/crpe/5574716","DOIUrl":"10.1155/crpe/5574716","url":null,"abstract":"<p><p>Hematochezia presenting in the neonatal period requires a thorough exploration of life-threatening and benign pathologies, including food protein-induced allergic proctocolitis (FPIES). This non-IgE-mediated food allergy is most commonly associated with cow's milk protein (CMP). It classically presents in the first weeks to months of life, following the introduction of a cow's milk-based formula or breast milk where the maternal diet includes cow's milk. We present a rare case of extremely early onset of CMP-induced proctocolitis, in a neonate presenting at 12 h of life with hematochezia. How does a food allergy develop at such a young age? We explore the current theories explaining this phenomenon.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5574716"},"PeriodicalIF":0.5,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13239146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197225","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":"Elusive Gastric Atrophy in Children: Diagnostic Pitfalls and a Stepwise Approach.","authors":"Nikita Rodenbach, Annette Venter, Alfonso Rodriguez-Herrera, Julia Duder, Eimear Lee","doi":"10.1155/crpe/9929872","DOIUrl":"10.1155/crpe/9929872","url":null,"abstract":"<p><p>Atrophic gastritis is an autoimmune gastritis that is characterised by the production of antibodies to parietal cells and intrinsic factor of the stomach. It is uncommon in paediatrics, as a result, is not usually in the differential diagnosis. A boy in middle childhood presented with a history of auditory hallucinations and fatigue, his workup only showed iron deficiency anaemia which responded to oral iron replacement but rebounded off therapy. There was no underlying cause found until years later, when he presented with Raynaud's phenomenon leading to an autoimmune workup being done which showed him being weakly antinuclear antibody (ANA) positive and strongly positive for antiparietal cell antibody. This led to the patient undergoing endoscopy where the histopathology findings revealed antral-like gastric mucosa with mild mixed chronic inflammation. There was a decrease in parietal cell numbers and t focal evidence of intestinal metaplasia, but no evidence of dysplasia or malignancy. This confirmed the diagnosis of atrophic gastritis which is extremely rare in the paediatric population.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9929872"},"PeriodicalIF":0.5,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148136742","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":"Paraspinal Extrarenal Wilms Tumor Case Report and Review of Literature.","authors":"Julianna L Barbaro, Violet M Borowicz, Brendan J Klein, Anthony J Emanuel","doi":"10.1155/crpe/8820759","DOIUrl":"10.1155/crpe/8820759","url":null,"abstract":"<p><strong>Introduction: </strong>Extrarenal Wilms tumors (ERWTs) (i.e., nephroblastoma) are exceptionally rare tumors that have only been reported approximately 100 times in the literature. These tumors necessitate histology (rather than imaging) for proper identification, often resulting in a postoperative diagnosis.</p><p><strong>Case presentation: </strong>At 20 weeks of gestation, a female fetus was diagnosed with a subcutaneous lumbosacral mass by prenatal ultrasound (US). Days after birth, the mass was resected and pathologically determined to be an ERWT. Specifically, the excised mass had a triphasic histologic pattern, including blastemal, stromal, and primitive epithelial components. Centrally, the lesion demonstrated cystic and pseudopapillary architectural features, while peripherally, the lesion was more solid with the morphologic appearance of Wilms tumor (WT). This case is unique due to (1) the unusual lumbosacral location, (2) the presence of normal bilateral kidneys on US, and (3) the detection of the mass on in utero imaging studies.</p><p><strong>Literature review: </strong>Including our report, ERWT has been reported 16 times in the (para)spinal/vertebral region and range from T9 to the coccyx. Most patients initially receive surgery (gross total resection, if feasible) followed by chemotherapy (vincristine and dactinomycin) and radiation depending on final pathology and additional case considerations.</p><p><strong>Discussion: </strong>Due to the rarity of ERWTs, there is no standardized treatment. Complete excision with adjuvant chemotherapy (vincristine and dactinomycin) is most often suggested as a best/most appropriate approach to treatment, with the addition of radiotherapy for recurrence and/or metastasis.</p><p><strong>Conclusion: </strong>This case report and literature review highlights the necessity of considering ERWT as a potential diagnosis when faced with a patient who has a lumbosacral paraspinal/spinal mass, even if other clinicoradiographic features typical of WT are not identified. We also call to light the need for a standardized treatment regimen for ERWT.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8820759"},"PeriodicalIF":0.5,"publicationDate":"2026-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13216713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148136787","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":"Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome.","authors":"Priya Arya, Miller C Hamrick, Benjamin Mackowiak, Bradley Buckler, Chad Haldeman-Englert, Stephanie E Ambrose","doi":"10.1155/crpe/8647206","DOIUrl":"10.1155/crpe/8647206","url":null,"abstract":"<p><p>Williams syndrome is a rare genetic disorder occurring in approximately 1 in 7500 individuals. The condition occurs as a result of deletions within chromosome 7q11.23, manifesting a unique phenotype with a wide constellation of symptoms. In this report of two cases, we present the care of two early-term infants with Williams syndrome. The first infant was noted to have bilateral paralysis of the vocal folds and required multidisciplinary care that ultimately mandated home tracheostomy and gastrostomy tube usage, while the second had unilateral vocal cord paralysis and similarly needed continued gastrostomy tube usage and feeding therapy. This dysfunction of the vocal folds was thought to have occurred due to the deletion of the gene region involving elastin, resulting in these atypical findings that increased the complexity of care of these patients. We document the clinical courses of these patients and their treatment regimens.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8647206"},"PeriodicalIF":0.5,"publicationDate":"2026-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148052735","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":"Life-Threatening Necrotizing Pneumonia in a Pediatric Patient: A Complicated Case From Palestine.","authors":"Hani Abu-Hijleh, Nagham Kawa, Seleen Abu Alhmam, Khaled Swafta, Maysaa Alawneh, Abdulkareem Saymeh, Abdulkarim Adas","doi":"10.1155/crpe/7410769","DOIUrl":"10.1155/crpe/7410769","url":null,"abstract":"<p><p>Necrotizing pneumonia (NP) is a severe and life-threatening complication of lung infection in children. While rare, it can lead to catastrophic complications such as hemothorax, where blood fills the pleural cavity. We present the case of a previously healthy 5-year-old girl who initially appeared to have a gastrointestinal illness. Her condition rapidly evolved into a complex medical emergency involving influenza-associated NP, which was then complicated by a sudden, massive hemothorax. Her hospital course was further challenged by drug-induced acute kidney injury (AKI) requiring temporary hemodialysis and the persistent mystery of negative bacterial cultures. This case highlights the aggressive potential of NP, the critical need for vigilance when clinical signs worsen abruptly, and the essential role of timely surgical intervention. Following an urgent thoracotomy and lung resection, the child made a full recovery, underscoring how a multidisciplinary approach can be life-saving in these extreme scenarios.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7410769"},"PeriodicalIF":0.5,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13202305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148041255","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":"Oxygen Consumption and Oxygen Pulse Patterns in Two Pediatric Patients With Pulmonary Hypertension and Different Clinical Responses: A Case Report.","authors":"Allegra J VanderWilde, Kimberley G Miles, Kristian C Becker, Paul J Critser, Michelle Cash, Melissa Magness, Wayne A Mays, Russel Hirsch, Adam W Powell","doi":"10.1155/crpe/6697634","DOIUrl":"10.1155/crpe/6697634","url":null,"abstract":"<p><p>Two patients with repaired congenital heart disease (CHD) and CHD-associated pulmonary arterial hypertension (PAH) are presented to illustrate the utility of cardiopulmonary exercise testing in this population. Novel markers used include the oxygen pulse curve (O₂pulse) as an initial marker of PAH-CHD disease progression. Both patients had an abrupt decrease in their peak oxygen consumption on serial exercise testing. In addition to the decrease in the peak oxygen consumption, Patient 1 also had a fall in the O₂pulse curve during progressive exercise and an episode of concerning symptoms, prompting an alteration medication management. Patient 2 had a similar drop in peak oxygen consumption without a fall in the O₂pulse curve, and this patient remained stable on their current medical therapies. The overall aim of this case study is to highlight the utility of cardiopulmonary exercise testing in patients with CHD-associated PAH and showcase the utility of exercise testing in optimizing clinical management.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6697634"},"PeriodicalIF":0.5,"publicationDate":"2026-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148013833","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}