Case Reports in Pediatrics最新文献

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Early Exchange Transfusion in Critical Pertussis: A Case Report Supporting Timely Intervention. 早期换血治疗重症百日咳:一例支持及时干预的病例报告。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-09-04 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/7016973
Eiman Al-Hashemi, Osama Shalaby, Fajer Altammar
{"title":"Early Exchange Transfusion in Critical Pertussis: A Case Report Supporting Timely Intervention.","authors":"Eiman Al-Hashemi, Osama Shalaby, Fajer Altammar","doi":"10.1155/crpe/7016973","DOIUrl":"https://doi.org/10.1155/crpe/7016973","url":null,"abstract":"<p><strong>Background: </strong>Critical pertussis is a rapidly progressive, life-threatening illness in infants, often presenting with hyperleukocytosis, respiratory failure, and hemodynamic instability. Mortality remains high despite supportive advances, and no standardized guidelines exist to guide the use of exchange transfusion in this setting.</p><p><strong>Objective: </strong>To describe the outcomes of early exchange transfusion in infants with critical pertussis managed in a high-acuity tertiary PICU in Kuwait and to advocate for the development of a standardized national protocol.</p><p><strong>Methods: </strong>This prospective case report includes three infants with PCR-confirmed <i>Bordetella pertussis</i> infection admitted between January and December 2024 to the Pediatric Intensive Care Unit (PICU) of New Jahra Hospital, Kuwait's busiest tertiary-level center. The decision to initiate exchange transfusion was based on consensus clinical assessment integrating clinical status and laboratory progression. Once the decision to proceed was made, double-volume exchange transfusion was performed according to a unit-specific procedural protocol developed within our institution. Clinical data, laboratory trends, and short-term outcomes were reviewed.</p><p><strong>Results: </strong>All infants presented with severe respiratory failure, marked hyperleukocytosis (> 30-60 × 10<sup>9</sup>/L), and evolving hemodynamic instability. Exchange transfusion performed within 2-4 days of admission led to prompt leukoreduction, improved perfusion, and clinical stabilization. All survived to discharge and remained well at 6-week follow-up. Thrombocytopenia occurred following exchange transfusion and resolved with supportive care. Seizures and iatrogenic opioid withdrawal occurred during the PICU course in Cases 1 and 2 and were not considered complications directly attributable to exchange transfusion. National feedback from PICU unit heads highlighted broad support for protocol standardization.</p><p><strong>Conclusion: </strong>Early exchange transfusion, guided by evolving clinical severity and laboratory trends, may contribute to favorable outcomes in infants with critical pertussis when considered before refractory pulmonary hypertension develops. These cases support timely recognition and intervention while underscoring the need for standardized national practice, maternal Tdap immunization, and strengthened disease surveillance.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7016973"},"PeriodicalIF":0.5,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13542994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148896619","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}
引用次数: 0
How Severe is Severe Enough? Organ Failure Rather Than Anemia Severity as a Potential Threshold for Complement Inhibition in Pediatric Paroxysmal Cold Hemoglobinuria: A Case Report. 多严重才算严重?器官衰竭而不是贫血严重程度作为补体抑制儿童阵发性寒性血红蛋白尿的潜在阈值:一个病例报告。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-09-03 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/8278542
Colburn Yu, Zachary Rane, Elena Nedelcu, Alison Matsunaga
{"title":"How Severe is Severe Enough? Organ Failure Rather Than Anemia Severity as a Potential Threshold for Complement Inhibition in Pediatric Paroxysmal Cold Hemoglobinuria: A Case Report.","authors":"Colburn Yu, Zachary Rane, Elena Nedelcu, Alison Matsunaga","doi":"10.1155/crpe/8278542","DOIUrl":"10.1155/crpe/8278542","url":null,"abstract":"<p><p>Paroxysmal cold hemoglobinuria (PCH) is an acquired intravascular hemolytic anemia of young children that is usually self-limited. Two patients with PCH have previously been described in the medical literature to have received complement inhibition with eculizumab, an inhibitor of complement C5, and in both cases, the drug was given in the setting of organ failure. No criterion defines when the use of complement inhibition is warranted. We report a previously healthy 23-month-old boy with postviral PCH whose hemoglobin nadir of 2.7 g/dL, undetectable total hemolytic complement (CH50), and elevated soluble C5b-9 represent the most severe anemia among the three reported patients. Despite this laboratory severity, he remained hemodynamically stable with preserved renal function, never requiring vasoactive support or dialysis, and recovered with warmed transfusion and thermal protection after eculizumab was deferred. Our experience suggests that organ failure, rather than anemia or hemolysis severity alone, may be a more clinically meaningful indicator for escalation to complement inhibition.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8278542"},"PeriodicalIF":0.5,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13540270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148886070","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}
引用次数: 0
Vomica and Respiratory Distress: A Complicated Lung Hydatid Cyst in a Child. 呕吐与呼吸窘迫:一例儿童复杂肺包虫病。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-09-01 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/5283544
Riccardo Guanà, Antonella Peduto, Maria Grazia Sacco Casamassima, Marco Denina, Marco Petraz, Cristina Giuliano, Giuseppe Farruggio, Lucia Gerbaudo, Fabrizio Gennari
{"title":"Vomica and Respiratory Distress: A Complicated Lung Hydatid Cyst in a Child.","authors":"Riccardo Guanà, Antonella Peduto, Maria Grazia Sacco Casamassima, Marco Denina, Marco Petraz, Cristina Giuliano, Giuseppe Farruggio, Lucia Gerbaudo, Fabrizio Gennari","doi":"10.1155/crpe/5283544","DOIUrl":"10.1155/crpe/5283544","url":null,"abstract":"<p><p>Hydatid cyst, caused by <i>Echinococcus</i> infection, is the most common parasitic lung infection in children. Giant cysts are generally the result of a late diagnosis and are associated with a high risk of spontaneous rupture and life-threatening complications, including anaphylactic shock. We present the complex management of a large, complicated hydatid cyst of the lung in an 11-year-old boy in a nonendemic area. This case highlighted the specific work-up and surgical treatment of lung cysts as well as the differential diagnosis to consider when treating pulmonary masses or pneumonia.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5283544"},"PeriodicalIF":0.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148872831","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}
引用次数: 0
Paediatric Ketamine Bladder Case Report: A Burgeoning Problem in the Paediatric Population. 小儿氯胺酮膀胱病例报告:一个新兴的问题,在儿科人群。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-08-31 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/2254453
Shreya Kulkarni, Arjun Visa, Marita Isaac, Joanne Parr, Charlotte Dunford E, Ravindar Anbarasan, Azad Mathur, Milind Kulkarni
{"title":"Paediatric Ketamine Bladder Case Report: A Burgeoning Problem in the Paediatric Population.","authors":"Shreya Kulkarni, Arjun Visa, Marita Isaac, Joanne Parr, Charlotte Dunford E, Ravindar Anbarasan, Azad Mathur, Milind Kulkarni","doi":"10.1155/crpe/2254453","DOIUrl":"10.1155/crpe/2254453","url":null,"abstract":"<p><p>Ketamine misuse is an increasing public health concern among adolescents in the United Kingdom, with initiation reported as early as 14 years of age and a rapidly rising demand for drug and alcohol support services. Chronic ketamine misuse is associated with significant urological sequelae, including ketamine-induced uropathy, a condition increasingly encountered within paediatric and adolescent populations. Despite this trend, there remains a lack of unified paediatric-specific management guidelines. We present the case of a 15-year-old boy who was referred urgently with abdominal pain and haematuria. Imaging revealed a thick-walled, irregular bladder with vascular soft tissue plaques, alongside a significantly raised albumin-creatinine ratio. Further assessment identified a history of heavy recreational ketamine use (up to 2 g/day) commencing at age 14. Following engagement with community drug and alcohol support services, the patient significantly reduced ketamine use, with subsequent improvement in symptoms, highlighting the potential reversibility of disease with early intervention and abstinence. This case underscores the emerging burden of ketamine-induced uropathy in paediatric urology and the need for a structured, age-appropriate management approach. Drawing on existing adult consensus guidance, we propose a tailored paediatric framework incorporating early noninvasive investigations, stepwise escalation of treatment, multidisciplinary involvement and close collaboration with youth-focused substance misuse services. Increased reporting and research into paediatric ketamine uropathy are essential to clarify disease trajectory, inform clinical guidelines and support public health strategies aimed at reducing long-term urological morbidity in young people.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2254453"},"PeriodicalIF":0.5,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873110","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}
引用次数: 0
Streptococcus pneumoniae Cerebellar Abscess in a Child With Specific Polysaccharide Antibody Deficiency: A Case Report. 特异性多糖抗体缺乏儿童肺炎链球菌小脑脓肿1例报告。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-08-27 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/4164740
Barbara Anna Folga, Adam S Bronson, Daniel Whorf, Joyce Rabbat, Lilly Immergluck
{"title":"<i>Streptococcus pneumoniae</i> Cerebellar Abscess in a Child With Specific Polysaccharide Antibody Deficiency: A Case Report.","authors":"Barbara Anna Folga, Adam S Bronson, Daniel Whorf, Joyce Rabbat, Lilly Immergluck","doi":"10.1155/crpe/4164740","DOIUrl":"10.1155/crpe/4164740","url":null,"abstract":"<p><p>Brain abscesses are local pockets of infection within the brain parenchyma, characterized by headaches, fevers, and focal neurological deficits. Here, we present a case of an eight-year-old fully vaccinated male patient who presented to the emergency department with a 1-week history of intermittent generalized headache, photophobia, fatigue, and vomiting. The patient was admitted for further work-up, with subsequent imaging revealing a cerebellar mass consistent with an abscess. Cultures from the abscess fluid grew pan-sensitive <i>Streptococcus pneumoniae</i>Serotype 3, and the patient was started on a 6-week course of antibiotic therapy, completed via an outpatient peripherally inserted central catheter (PICC) line. Considering that this serotype is one of the 13 serotypes included in the pneumococcal conjugate vaccine 13 (PCV13), potential etiologies for the patient's presentation were proposed, including underlying immunodeficiency. An immunodeficiency work-up diagnosed him with specific polysaccharide antibody deficiency (SPAD) with poor immunologic memory after vaccination against <i>Streptococcus pneumoniae,</i> and <i>Haemophilus influenzae</i> failed to induce robust and durable antibody levels. This case underscores the importance of screening children who were previously immunized with PCV and present with invasive pneumococcal disease (IPD) for underlying immunodeficiency.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4164740"},"PeriodicalIF":0.5,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849959","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}
引用次数: 0
Idiopathic Epididymo-Orchitis and Pyocele in a Preterm Newborn: A Case Report. 早产儿特发性附睾-睾丸炎和幽门膨出1例报告。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-08-27 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/5548695
Pierrot Sarkis, Fares Chedid, Mohammad Khalil
{"title":"Idiopathic Epididymo-Orchitis and Pyocele in a Preterm Newborn: A Case Report.","authors":"Pierrot Sarkis, Fares Chedid, Mohammad Khalil","doi":"10.1155/crpe/5548695","DOIUrl":"10.1155/crpe/5548695","url":null,"abstract":"<p><p>Epididymo-orchitis (EO) is an extremely rare condition in preterm infants and usually results from hematogenous bacterial spread or urinary infections linked to structural abnormalities. We describe a preterm newborn, born at 36 weeks of gestation, with a left-sided diaphragmatic hernia. After successful surgery at 12 h of life, the newborn developed red and tender swelling of the right scrotum on the 13th postoperative day. Color Doppler ultrasonography revealed an abrupt cessation of vascular flow at the base of the right scrotum and peri-testicular fluid. Urinalysis results were unremarkable. Surgical exploration revealed pus in the tunica vaginalis and congestion of the right epididymis and testis, confirming the diagnosis of EO and pyocele. The peri-testicular space was cleaned and drained. Blood and peri-testicular pus cultures revealed the growth of <i>Escherichia coli</i>, while urine culture showed no growth. After 3 days of scrotal drainage and a 10-day antibiotic course, the infant improved. Follow-up ultrasound on Day 14 after surgery showed normal testicular size and structure. EO and pyocele should be considered in acute scrotal swelling in a preterm. The absence of sepsis, urinary tract infection, or urinary tract abnormalities does not preclude the diagnosis.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5548695"},"PeriodicalIF":0.5,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849978","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}
引用次数: 0
Congenital Pulmonary Airway Malformation Presenting as Pneumothorax: Two Case Reports. 以气胸表现的先天性肺气道畸形2例报告。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-08-27 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/5078477
Linda Paul Athman, Happiness Malyas, Joseph Nkuba, Aika Shoo
{"title":"Congenital Pulmonary Airway Malformation Presenting as Pneumothorax: Two Case Reports.","authors":"Linda Paul Athman, Happiness Malyas, Joseph Nkuba, Aika Shoo","doi":"10.1155/crpe/5078477","DOIUrl":"10.1155/crpe/5078477","url":null,"abstract":"<p><strong>Background: </strong>Congenital pulmonary airway malformation (CPAM) is a rare developmental anomaly of the lower respiratory tract, with an estimated incidence ranging from 1 in 10,000 to 1 in 35,000 live births. CPAM may present during infancy with severe respiratory distress and complications such as pneumothorax or recurrent pulmonary infection.</p><p><strong>Case presentation: </strong>We report two female infants aged 7 months and 2 months who presented with severe respiratory distress and radiological findings initially suggestive of pneumothorax. In Case 1, chest computed tomography (CT) demonstrated a large solitary cyst consistent with Type I CPAM. The patient required prolonged pediatric intensive care admission complicated by ventilator-associated infection with <i>Pseudomonas aeruginosa</i> and <i>Acinetobacter baumannii</i> before successful right lower lobectomy and recovery. In Case 2, chest CT demonstrated multiple cystic hyperinflated lesions suggested Type III CPAM; however, alternative differentials of bronchial atresia and other congenital cystic lung lesions could not be excluded. Despite aggressive ventilatory and antimicrobial management, the infant deteriorated and died from progressive respiratory failure prior to surgical intervention.</p><p><strong>Conclusion: </strong>These cases highlight the diagnostic complexity of congenital cystic lung lesions presenting with respiratory distress in resource-limited settings. Early advanced imaging, multidisciplinary evaluation, and timely surgical management remain critical for improving outcomes.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5078477"},"PeriodicalIF":0.5,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849957","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}
引用次数: 0
MOG Antibody-Associated Disease With Bilateral Deep Gray Matter Involvement in a Child: Unique MRI Findings and Therapeutic Response. 儿童MOG抗体相关疾病伴双侧深灰质受损伤:独特的MRI表现和治疗反应。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-08-25 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/1435159
Abdulkareem Saymeh, Hamza A Abdul-Hafez, Alaa Zayed, Maysaa Alawneh, Motee Ashhab, Dima Jabri, Issa Alawneh
{"title":"MOG Antibody-Associated Disease With Bilateral Deep Gray Matter Involvement in a Child: Unique MRI Findings and Therapeutic Response.","authors":"Abdulkareem Saymeh, Hamza A Abdul-Hafez, Alaa Zayed, Maysaa Alawneh, Motee Ashhab, Dima Jabri, Issa Alawneh","doi":"10.1155/crpe/1435159","DOIUrl":"10.1155/crpe/1435159","url":null,"abstract":"<p><p>Myelin oligodendrocyte glycoprotein antibody-associated disease is an autoimmune inflammatory demyelinating disorder of the central nervous system with diverse clinical and radiological manifestations; however, bilateral symmetric deep gray matter involvement is an exceptionally uncommon presentation in children. We report a previously healthy 3-year-old boy who presented with fever, encephalopathy, and focal seizures following a viral illness. Brain magnetic resonance imaging (MRI) demonstrated bilateral symmetric T2/FLAIR hyperintensities involving the basal ganglia, thalami, external capsules, subcortical white matter, and brainstem. Cerebrospinal fluid analysis revealed lymphocytic pleocytosis, and MOG-IgG antibodies were detected using a cell-based assay. Extensive infectious, metabolic, mitochondrial, and genetic investigations were unrevealing. Despite treatment with high-dose intravenous methylprednisolone and intravenous immunoglobulin, the patient showed minimal clinical improvement; however, six sessions of plasmapheresis resulted in marked neurological recovery, with complete clinical and radiological resolution by Day 24. This case expands the recognized neuroimaging spectrum of pediatric MOGAD and highlights the importance of considering MOGAD in children presenting with encephalopathy and atypical bilateral deep gray matter lesions after exclusion of alternative etiologies. It also underscores the potential role of plasmapheresis in severe or steroid-refractory cases, emphasizing the importance of early diagnosis and prompt immunomodulatory treatment for favorable outcomes.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"1435159"},"PeriodicalIF":0.5,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13504358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148817603","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}
引用次数: 0
Adapting to Constraints: Successful Repair of a Challenging Tetralogy of Fallot Case. 适应约束:成功修复一个具有挑战性的法洛四联症病例。
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-08-24 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/4690543
Oung Savly, Sujith S Pereira, H Y Soklay
{"title":"Adapting to Constraints: Successful Repair of a Challenging Tetralogy of Fallot Case.","authors":"Oung Savly, Sujith S Pereira, H Y Soklay","doi":"10.1155/crpe/4690543","DOIUrl":"10.1155/crpe/4690543","url":null,"abstract":"<p><p>This case describes the clinical presentation and management of a 5-month-old infant who presented with cyanosis worsened with crying and failure to thrive. He was diagnosed with Tetralogy of Fallot using detailed echocardiography, which was used to plan corrective surgery and achieve the best outcome for this infant, who was successfully discharged home 1 week following surgery. This case report highlights how these challenging cases can be managed as per international recommendations and provides an insight into the practical aspects of caring for such challenging cases in a resource-limited setting.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4690543"},"PeriodicalIF":0.5,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13501896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148812016","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}
引用次数: 0
Resolution of Refractory Chylous Effusions With Targeted MEK Inhibition in NRAS Q61R-Driven Kaposiform Lymphangiomatosis: A Case Report. 靶向MEK抑制NRAS q61r驱动的卡波西样淋巴管瘤病难治性乳糜积液:1例报告
IF 0.5
Case Reports in Pediatrics Pub Date : 2026-08-24 eCollection Date: 2026-01-01 DOI: 10.1155/crpe/7037459
Georgia Brown, Sarah McNab, Susan Keogh, John Massie, Lucas Eastaugh, Lydia Pathmanathan, Monique Bertinetti, Michael Sullivan, Lisa Orme, Thomas Cloney, Natasha J Brown, Tiong Y Tan, Rebecca Quin, Mark Pertile, Anna Moon, Elhamy Bekhit, Tony Penington
{"title":"Resolution of Refractory Chylous Effusions With Targeted MEK Inhibition in NRAS Q61R-Driven Kaposiform Lymphangiomatosis: A Case Report.","authors":"Georgia Brown, Sarah McNab, Susan Keogh, John Massie, Lucas Eastaugh, Lydia Pathmanathan, Monique Bertinetti, Michael Sullivan, Lisa Orme, Thomas Cloney, Natasha J Brown, Tiong Y Tan, Rebecca Quin, Mark Pertile, Anna Moon, Elhamy Bekhit, Tony Penington","doi":"10.1155/crpe/7037459","DOIUrl":"10.1155/crpe/7037459","url":null,"abstract":"<p><strong>Introduction: </strong>Kaposiform lymphangiomatosis (KLA) is a rare and aggressive lymphatic anomaly characterised by chylous effusions, respiratory failure and poor prognosis. Diagnosis is often challenging and delayed due to the mosaic distribution of causative somatic mutations.</p><p><strong>Case presentation: </strong>A previously well four-year-old girl presented with pleural and pericardial effusions and methicillin-sensitive <i>Staphylococcus aureus</i> bacteraemia. She was treated with intravenous antibiotics, and chest and pericardial drains were inserted. Despite these measures, she developed high-volume, refractory chylous effusions. Management included dietary modification, as well as trials of octreotide and intravenous methylprednisolone, neither of which reduced chyle output. Magnetic resonance lymphangiography demonstrated diffuse abdominal and thoracic lymphatic abnormalities. She was subsequently treated with sirolimus, which was associated with reduced pleural and pericardial chylous drainage but ongoing clinical deterioration. Cell-free DNA analysis of pleural fluid identified a somatic NRAS variant (NM_002524.5 (NRAS):c.182A > G (p.Gln61Arg)). In the absence of histopathology, a presumed diagnosis of NRAS Q61R-driven KLA was made based on clinical, radiologic and molecular findings. She was started on trametinib, a MEK inhibitor. Over the subsequent 7 weeks, she was weaned from respiratory support and parenteral nutrition, transitioned to a fat-containing diet and experienced resolution of clinically significant effusions, allowing discharge home.</p><p><strong>Conclusion: </strong>This case highlights the diagnostic challenges of complex lymphatic anomalies, demonstrates the utility of cell-free DNA analysis from effusions in identifying pathogenic somatic variants and underscores the therapeutic potential of targeted MEK inhibition in NRAS Q61R-driven KLA.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7037459"},"PeriodicalIF":0.5,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13501887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811994","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}
引用次数: 0
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