Case Reports in Pediatrics最新文献

{"title":"Paroxysmal Tonic Upgaze in Pediatric Patients With Down Syndrome: A Case Report.","authors":"Sierra Sanchez, Elise O'Neil, Stacy McConkey","doi":"10.1155/crpe/7858435","DOIUrl":"10.1155/crpe/7858435","url":null,"abstract":"<p><p>Paroxysmal Tonic Upgaze (PTU) is a paroxysmal movement disorder characterized by episodes of sustained upward deviation of the eyes, which can be misidentified as a seizure. There has been no definite association made between PTU and Down syndrome although Down syndrome has been associated with various other ocular and neurologic conditions. This case report describes three patients with Down syndrome who presented with seizure-like activity and were ultimately diagnosed with PTU. Consideration of PTU in a differential diagnosis, especially in patients with a history of Down syndrome, is essential for accurately distinguishing potentially benign conditions from epilepsy and can help clinicians avoid misdiagnosis and unnecessary treatments.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7858435"},"PeriodicalIF":0.5,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215146","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":"When Rare Meets Routine: Anesthetic Management of a Child With Gould Syndrome-A Case Report.","authors":"Hannah Anderson, Abdul Waleed, Andrew Purcell","doi":"10.1155/crpe/2066149","DOIUrl":"https://doi.org/10.1155/crpe/2066149","url":null,"abstract":"<p><p>Gould syndrome is a rare, inherited syndrome. Its clinical manifestation may necessitate surgical treatment and anesthetic care. We report a case of anesthetic management of elective, bilateral adductor and gracilis tendon release in a child with a diagnosis of Gould syndrome. As there are currently no reports in the medical literature addressing anesthetic conduct for this condition, we discuss the perioperative considerations necessary to anticipate and mitigate potential complications. The syndrome's diverse presentation, ranging from neurological deficits and seizures to ophthalmic complications and supraventricular arrhythmias, demands a tailored anesthetic approach.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2066149"},"PeriodicalIF":0.5,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179482","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 of Misdiagnosed Pediatric Congenital Nephrogenic Diabetes Insipidus due to AQP2 Variants.","authors":"Valeria Chirico, Fabiola Cassaro, Serena Sbilordo, Antonio Lacquaniti, Lorena Silipigni, Lucia Marseglia, Karol Galletta, Francesca Granata, Paola Tirelli, Grazia Cirillo, Salvatore Arena, Pierluigi Marzuillo, Roberto Chimenz","doi":"10.1155/crpe/9068249","DOIUrl":"10.1155/crpe/9068249","url":null,"abstract":"<p><strong>Background: </strong>Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder of renal water handling, often presenting in early infancy with severe polyuria and hypernatremia. Differentiating CNDI from central diabetes insipidus (CDI) remains challenging, and delayed identification may result in inappropriate therapy, leading to adverse growth and neurodevelopmental outcomes.</p><p><strong>Case presentation: </strong>We present the case of an 8-month-old male infant with a history of suspected CDI since birth. He was treated with desmopressin (dDAVP) without clinical benefit. The absence of the posterior pituitary bright spot at magnetic resonance imaging supported the CDI diagnosis. Considering persistent polyuria with recurrent episodes of hypernatremia and low urine osmolality, a diagnosis of CNDI was proposed, and plasma copeptin (CP) levels were determined. Measurement of CP showed markedly increased concentrations, suggesting renal tubular resistance to vasopressin. dDAVP therapy was discontinued and patient's management was adjusted to include hydrochlorothiazide therapy and a high-calorie diet restricted in sodium and protein. The patient showed progressive clinical improvement with reduction of polyuria and stabilization of serum sodium levels, although linear growth delay persisted. A final diagnosis of CNDI was confirmed by molecular analysis that identified rare compound heterozygous variants in the AQP2 gene, c.85G > A variant (maternal) and c.553C > G (paternal).</p><p><strong>Conclusions: </strong>This case highlights the diagnostic pitfalls of CNDI in infancy and underscores the pivotal role of early CP assessment and molecular genetic testing in distinguishing CNDI from CDI. Prompt recognition of CNDI is essential to avoid ineffective dDAVP therapy and to initiate a targeted multidisciplinary approach. Rare <i>AQP2</i> mutations further expand the genotypic spectrum of CNDI and emphasize the need for heightened clinical awareness and early referral to specialized centers.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9068249"},"PeriodicalIF":0.5,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135113","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":"Pediatric Dilated Cardiomyopathy With Suspected Hereditary Protein C/S and Antithrombin III Deficiency Presenting as Ischemic Stroke-A Rare Case Report.","authors":"Muhammad Waleed Imran, Muhammad Moaz, Sanwal Sardar Nawaz, Amna Ilyas, Sabeen Abid","doi":"10.1155/crpe/3631063","DOIUrl":"10.1155/crpe/3631063","url":null,"abstract":"<p><strong>Objective: </strong>To report a rare case of pediatric dilated cardiomyopathy (DCM) with suspected hereditary protein C, protein S, and antithrombin III deficiency presenting as ischemic stroke.</p><p><strong>Background: </strong>Children with DCM are at increased risk of thromboembolism. Inherited thrombophilias are an uncommon but important cause of pediatric stroke and may coexist with cardiac disease.</p><p><strong>Case presentation: </strong>An 8-year-old female presented with heart failure and was diagnosed with severe DCM (LVEF ∼24%). Despite medical therapy and antiplatelet prophylaxis, she developed acute right-sided hemiparesis. MRI confirmed a left hemispheric ischemic stroke. Thrombophilia workup revealed reduced protein C (41.5%), protein S (50.7%), and antithrombin III (65.1%) levels, suggestive of a suspected inherited thrombophilic disorder, while PT/aPTT/INR remained normal. She was managed conservatively with antiplatelets and rehabilitation, showing partial neurological recovery. Follow-up demonstrated improved cardiac function (LVEF ∼50%).</p><p><strong>Conclusion: </strong>The coexistence of DCM and suspected inherited thrombophilia can predispose to ischemic stroke in children. Normal routine coagulation tests do not exclude thrombophilia; targeted screening should be considered in high-risk cases.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"3631063"},"PeriodicalIF":0.5,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135075","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":"Suspected Infective Endocarditis in a Premature Neonate After Patent Ductus Arteriosus Occluder Placement: A Case Report.","authors":"Kiely Fagundes, Megan Murphy, Apthi Muralidhar, Debra Palazzi, Muralidhar Premkumar, Daniela Dinu","doi":"10.1155/crpe/6636016","DOIUrl":"10.1155/crpe/6636016","url":null,"abstract":"<p><p>Patent ductus arteriosus (PDA) is the most common cardiac abnormality in premature neonates, and percutaneous, transcatheter occlusion devices are increasingly used for its nonsurgical closure. Even though PDA occluders are safe and effective, they are not without risks. Infective endocarditis (IE), a complication associated with percutaneous occlusion device placement in other congenital heart conditions, has not been described with a PDA occluder. We describe a case of suspected endocarditis in an extremely low birth weight (ELBW) neonate after PDA occluder placement.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6636016"},"PeriodicalIF":0.5,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135083","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":"Persistent Multidrug-Resistant <i>Salmonella enterica</i> Serovar Paratyphi A Bacteremia in a Preterm Neonate: A Case Report.","authors":"Khat Sophea, Srey Viso, Chean Sophâl","doi":"10.1155/crpe/2293042","DOIUrl":"https://doi.org/10.1155/crpe/2293042","url":null,"abstract":"<p><strong>Background: </strong>Neonatal sepsis caused by <i>Salmonella enterica</i> serovar Paratyphi A is rare and may present with nonspecific clinical features. Multidrug-resistant strains pose substantial diagnostic and therapeutic challenges, particularly in resource-limited settings.</p><p><strong>Case presentation: </strong>We report a preterm neonate born at 33 weeks of gestation with a birth weight of 1800 g who initially presented with respiratory distress and was managed as transient tachypnea of the newborn. The infant subsequently developed persistent fever, feeding intolerance, abdominal distension, leukopenia, severe thrombocytopenia, and elevated inflammatory markers despite initially negative blood cultures. A blood culture obtained on Day 20 of life grew multidrug-resistant <i>S. Paratyphi A</i>, resistant to ceftriaxone, ciprofloxacin, pefloxacin, and trimethoprim-sulfamethoxazole, with intermediate susceptibility to amikacin. The infant required blood-product support and prolonged antimicrobial therapy. A 21-day course of empiric cefoperazone/sulbactam plus levofloxacin was administered with close monitoring and was temporally associated with clinical improvement and microbiological clearance. Blood cultures obtained on Days 45 and 50 were negative. No maternal or apparent healthcare-associated source was identified.</p><p><strong>Conclusion: </strong>Persistent multidrug-resistant <i>S. Paratyphi A</i> bacteremia should be considered in neonates with refractory sepsis despite initially negative blood cultures. Repeated cultures, reassessment of antimicrobial susceptibility, and cautious individualized treatment are essential when laboratory capacity and therapeutic options are limited. The effectiveness of empiric salvage therapy cannot be established without direct susceptibility data and stronger supporting evidence.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2293042"},"PeriodicalIF":0.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13628705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149103551","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":"Tension Gastrothorax in a Child With Undiagnosed Congenital Diaphragmatic Hernia: A Case Report and Proposed Emergency Management Algorithm.","authors":"Kalliopi Straka, Eleni Christakou","doi":"10.1155/crpe/3569669","DOIUrl":"10.1155/crpe/3569669","url":null,"abstract":"<p><strong>Background: </strong>Tension gastrothorax is a rare but life-threatening pediatric emergency that most commonly results from herniation of the stomach through an unrecognized congenital diaphragmatic defect, followed by progressive intrathoracic gastric distension and compression of intrathoracic structures. Because its clinical presentation often mimics tension pneumothorax, delayed diagnosis, or inappropriate management may rapidly lead to obstructive shock, respiratory failure, and cardiac arrest. Prompt recognition and timely intervention are therefore essential to prevent fatal outcomes.</p><p><strong>Case presentation: </strong>We report the case of a previously healthy 3-year-old boy who presented with abdominal pain, recurrent vomiting, fever, and rapidly progressive respiratory distress. Shortly after admission, he developed severe respiratory compromise, hemodynamic instability, and altered mental status, raising initial suspicion of tension pneumothorax. However, chest radiography demonstrated a large air-fluid level occupying the left hemithorax with marked mediastinal shift, consistent with tension gastrothorax. Initial nasogastric decompression was unsuccessful, due to distortion of the gastroesophageal junction. Owing to the patient's critical condition, emergency transthoracic needle decompression followed by drain placement into the distended intrathoracic stomach was performed, resulting in immediate hemodynamic and respiratory improvement. Computed tomography subsequently confirmed a left-sided Bochdalek congenital diaphragmatic hernia with intrathoracic herniation of the stomach, spleen, small bowel, and part of the colon. Definitive surgical repair was undertaken on the same day after patient's stabilization. The postoperative course was complicated by acute lung injury and sepsis, but the child recovered fully and remained asymptomatic at follow-up.</p><p><strong>Conclusion: </strong>Tension gastrothorax should be considered in the differential diagnosis of any child presenting with sudden respiratory deterioration, unilateral absent breath sounds, and mediastinal shift, especially when preceded by vomiting or other events associated with increased intra-abdominal pressure. Recognition of the characteristic radiographic findings, prompt gastric decompression, and early multidisciplinary management are critical for preventing life-threatening cardiorespiratory compromise. This case highlights the importance of maintaining a high index of suspicion for this uncommon but potentially fatal condition in children with previously undiagnosed congenital diaphragmatic hernia.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"3569669"},"PeriodicalIF":0.5,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13620827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149079972","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":"Coexisting Hearing Impairment in Children Presenting With Speech and Language Delay: A Case Series Highlighting the Importance of Routine Audiological Assessment.","authors":"Kyaw Linn, Win Lai May, Khin Nandar Kyaw, Aye Myat Sandar Win, Phyu Phyu Khaing Zin, Su Myat Soe, Hnin Wint Wint Aung","doi":"10.1155/crpe/7681667","DOIUrl":"https://doi.org/10.1155/crpe/7681667","url":null,"abstract":"<p><strong>Background: </strong>Speech and language delay is a common reason for referral to developmental pediatric services. Hearing impairment is an important and potentially manageable cause but may be overlooked because its clinical presentation often overlaps with autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and other neurodevelopmental disorders. In Myanmar, where universal newborn hearing screening has not yet been routinely implemented, delayed recognition of hearing impairment remains an important clinical challenge.</p><p><strong>Case presentation: </strong>We describe four children aged 5-7 years who were assessed at the Developmental Paediatrics Service of CLL HEALTH Community Paediatric Clinics, Yangon, Myanmar, after referral for speech delay, behavioral concerns, suspected ASD, attention difficulties, or school readiness assessment. Comprehensive developmental assessment together with formal audiological evaluation identified bilateral moderate sensorineural hearing loss in one child with language disorder, bilateral sensorineural hearing loss in a child with developmental coordination disorder and executive dysfunction, bilateral severe-to-profound hearing loss in a child initially suspected of having ADHD, and unilateral mild-to-moderate hearing loss in a child with ASD. None of the children had undergone newborn hearing screening. Hearing impairment either explained the presenting concerns or coexisted with neurodevelopmental disorders, contributing to communication, behavioral, and educational difficulties.</p><p><strong>Conclusion: </strong>This case series highlights the diagnostic challenges of recognizing hearing impairment in children presenting with developmental concerns in Myanmar, particularly in the absence of routine newborn hearing screening. Hearing impairment may mimic neurodevelopmental disorders, coexist with them, or contribute substantially to developmental difficulties. Routine audiological assessment should, therefore, be incorporated into the evaluation of all children presenting with speech and language delay or broader developmental concerns to facilitate timely diagnosis and appropriate multidisciplinary intervention.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7681667"},"PeriodicalIF":0.5,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13624383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104806","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":"Pyogenic Granuloma of the Dorsum of the Tongue in a Child: A Case Report and Literature Review.","authors":"Elisa M R B Coelho, Júlia Papke, Fabio L D M Maito, Ana Caroline B Silva, Amanda B S Heck, Paulo F Kramer","doi":"10.1155/crpe/6872764","DOIUrl":"10.1155/crpe/6872764","url":null,"abstract":"<p><p>Pyogenic granuloma (PG) is a reactive lesion that most commonly affects the gingiva but may also occur at less frequent intraoral sites, complicating clinical diagnosis, particularly in pediatric patients. This paper reports a case of lingual PG in a seven-year-old girl and provides a descriptive review of published pediatric cases. The lesion developed following a reported episode of local trauma to the tongue, although the specific nature of the trauma was unknown, and presented as a painless, ulcerated nodular growth on the left anterior dorsum of the tongue. An excisional biopsy was performed, and the diagnosis was confirmed by histopathological examination. Complete healing was observed, with no recurrence after 3 months of follow-up. A descriptive literature review was conducted through a structured search of PubMed, Scopus, and Web of Science for published cases of oral PG in children aged 0-12 years. Thirty-six cases met the eligibility criteria. Most lesions involved the gingiva, while extragingival sites included the tongue, lips, and palate. Conventional surgical excision was the most frequently reported initial treatment. This case and the literature review highlight that PG may occur at atypical intraoral sites in children and requires careful clinical evaluation and histopathological confirmation.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6872764"},"PeriodicalIF":0.5,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13618553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149073343","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":"Bilateral Anophthalmia Associated With Ventricular Septal Defect, Atrial Septal Defect, and Patent Ductus Arteriosus: A Rare Neonatal Case Report.","authors":"Abdullahi Ali Roble, Abdisalam Ismail Hassan, Said Abdi Mohamed, Hassan Muhumed Mohamed, Ishak Ahmed Abdi, Abdijalil Abdullahi Ali, Balqiz Mohamed Kulle, Ahmed Shafie Aden, Hanan Hassan Hirei Abdalla, Mohamed Osman Dahir Alasow, Shuayb Abdullahi Adan, Ahmed Muhamad Bashir","doi":"10.1155/crpe/4616554","DOIUrl":"10.1155/crpe/4616554","url":null,"abstract":"<p><strong>Background: </strong>Anophthalmia is a rare congenital ocular malformation characterized by the complete absence of the eye and its associated ocular structures. Bilateral anophthalmia is particularly uncommon and is frequently associated with multisystem congenital anomalies. Congenital heart disease represents one of the most commonly reported systemic associations; therefore, all infants diagnosed with bilateral anophthalmia should undergo comprehensive systemic evaluation, including detailed cardiovascular assessment. However, the coexistence of bilateral anophthalmia with multiple congenital cardiac defects remains uncommon, with only a limited number of cases reported in the literature.</p><p><strong>Case presentation: </strong>We report the case of a 3-day-old full-term Somali male neonate, born in a resource-limited rural setting, who presented with the complete bilateral absence of the ocular globes, which was identified immediately after birth. Ophthalmologic examination confirmed bilateral congenital anophthalmia. During hospitalization, the infant developed clinical features of hemodynamically significant left-to-right shunt physiology, including tachypnea during feeding, feeding difficulties, easy fatigability, and diaphoresis. Brain magnetic resonance imaging confirmed complete bilateral anophthalmia without associated intracranial abnormalities. Transthoracic echocardiography demonstrated multiple congenital cardiac defects, including a 4-mm muscular ventricular septal defect, a 4-mm secundum atrial septal defect associated with an atrial septal aneurysm, and a 3-mm patent ductus arteriosus with restrictive left-to-right shunting. Owing to the hemodynamic significance of these lesions and the lack of advanced pediatric cardiac surgical services locally, the patient was stabilized and referred abroad for definitive surgical management.</p><p><strong>Conclusion: </strong>This case underscores the rarity of bilateral congenital anophthalmia associated with multiple congenital cardiac anomalies and highlights the critical need for thorough systemic evaluation of neonates with major congenital malformations. Early multidisciplinary involvement and timely referral to specialized centers are essential, particularly in resource-limited settings where diagnostic and therapeutic options are constrained.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4616554"},"PeriodicalIF":0.5,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13617247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149073276","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}