Case Reports in Pediatrics最新文献

{"title":"An Atypical Pediatric Headache: Outpatient Presentation of Petrous Apicitis With Cerebral Venous Sinus Thrombosis.","authors":"Merrick J Harris, Paola Pedraza Cruz, Janet Moore, Deepa Mukundan","doi":"10.1155/crpe/3216868","DOIUrl":"10.1155/crpe/3216868","url":null,"abstract":"<p><strong>Background: </strong>Severe complications of acute otitis media (AOM) are rare in the United States due to widespread antibiotic use. One severe complication of AOM is the contiguous spread of infection to the petrous apex of the temporal bone, causing petrous apicitis. Due to its proximity to the dural venous sinuses, petrous apicitis can lead to a septic cerebral venous sinus thrombosis (CVST). The presentation of these complications is discussed here in the case of an 8-year-old male.</p><p><strong>Case report: </strong>An 8-year-old male with no significant past medical history presented to an outpatient clinic with a history of intermittent headaches. Examination revealed bilateral papilledema, swelling behind the right ear, and a right middle ear effusion, resulting in a prompt referral to the emergency department. Imaging demonstrated mastoiditis, petrous apicitis, and thrombosis of the right sigmoid and transverse sinuses extending into the internal jugular vein. He was admitted to the pediatric intensive care unit and treated with anticoagulation, empiric antibiotics, and acetazolamide for intracranial hypertension. His course was complicated by the development of abducens neuropathy and somnolence, and he underwent right mastoidectomy with sigmoid sinus decompression. Intraoperative cultures grew <i>Streptococcus intermedius</i>. Postoperatively, he improved clinically, though persistent papilledema and abducens nerve palsy were noted. He was discharged after a ten-day inpatient stay on a regimen of oral antibiotics, rivaroxaban, and acetazolamide, with multidisciplinary follow-up.</p><p><strong>Conclusions: </strong>Petrous apicitis with septic CVST is a rare but life-threatening complication of AOM. This case emphasizes the need for vigilance in children presenting with severe or persistent neurologic symptoms in the setting of prior otologic symptoms. Prompt recognition and treatment are critical to reducing morbidity and preventing long-term neurologic sequelae.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"3216868"},"PeriodicalIF":0.5,"publicationDate":"2026-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12976808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147442794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Adrenal Hemorrhage Mimicking Suprarenal Tumor in a 12-Day-Old With <i>Escherichia coli</i> Urosepsis.","authors":"Khaled Sawafta, Hani Abu Hijleh, Yousef Samara, Tasbeeh Al-Kharraz","doi":"10.1155/crpe/2165402","DOIUrl":"10.1155/crpe/2165402","url":null,"abstract":"<p><p>Neonatal adrenal hemorrhage is an uncommon finding that may resemble suprarenal tumors. We describe a term male neonate who developed <i>Escherichia coli</i> urosepsis and was incidentally found to have a left suprarenal cystic lesion. Imaging and laboratory workup excluded malignancy, and the infant remained stable under conservative treatment with antibiotics and serial ultrasound follow-up. This case emphasizes the need to consider adrenal hemorrhage in septic neonates with abdominal masses and supports noninvasive management in the absence of malignant features.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2165402"},"PeriodicalIF":0.5,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12950900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147347736","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":"Rare Presentation of Heterozygous PCSK1 Deficiency in an Adolescent Male.","authors":"Tai Metzger, Abdullah Jalal, Silvestre R Duran","doi":"10.1155/crpe/3460735","DOIUrl":"10.1155/crpe/3460735","url":null,"abstract":"<p><strong>Background: </strong>Proprotein convertase subtilisin/kexin type 1 (PCSK1) is an enzyme involved in processing prohormones into active peptides. PCSK1 deficiency is a rare genetic condition in which the homozygous presentation has been documented to cause diarrhea during infancy, as well as childhood obesity, high levels of proinsulin, and diverse endocrine abnormalities.</p><p><strong>Case description: </strong>An eleven-year-old male was evaluated in the pediatric cardiology clinic for hypertriglyceridemia and rapid weight gain. He had recently been diagnosed with heterozygous PCSK1 deficiency, defined as c.661A > G, which is predicted to result in the amino acid substitution p.Asn221Asp. The patient reported regular hyperphagia to the point of nausea, with a diet of processed and sugary foods. Past medical history included obstructive sleep apnea and migraines. Physical examination was unremarkable aside from severe obesity (BMI 39.7 kg/m²) and elevated blood pressure. His fasting lipid panel showed elevated triglycerides (330 mg/dL), low HDL (38 mg/dL), normal LDL (71 mg/dL), elevated total cholesterol (175 mg/dL), and normal HbA1c (5.0%). The patient was counseled on lifestyle modifications with the weight management clinic and began a structured weight loss program along with discussions of possible GLP-1 agonist initiation. Follow-up lipid monitoring was planned in 3 months after the cardiology clinic visit.</p><p><strong>Discussion: </strong>This case of a heterozygous PCSK1 variant may demonstrate an association between this variant and the patient's clinical presentation, possibly expanding the known clinical spectrum of the disorder beyond the previously reported presentations in homozygous cases. Our case may show how heterozygous presentations with this variant of PCSK1 deficiency demonstrate a different presentation from the homozygous phenotype in younger patients. This patient shows that PCSK1 abnormalities could have an association with individuals who have hyperphagia and significant obesity, but normal HbA1c and LDL levels. Additional studies could be considered to evaluate prevalence in the population, long-term outcomes, and targeted therapies.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"3460735"},"PeriodicalIF":0.5,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12947662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147324681","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":"Kawasaki Disease in a Child With Trisomy 18 Treated With Initial Combination Therapy, Including Cyclosporine.","authors":"Yasuyuki Sahara, Naomi Yagi, Yoshitaka Watanabe, Koichiro Aoki, Takashi Iwaku, Makiko Tominaga, Hirokazu Ikeda","doi":"10.1155/crpe/5048859","DOIUrl":"10.1155/crpe/5048859","url":null,"abstract":"<p><strong>Background: </strong>Kawasaki disease is a systemic inflammatory disorder that is frequently encountered in routine pediatric clinical practice. Conversely, trisomy 18 is a chromosomal disorder with a historically poor prognosis. However, recent advances in medical care have improved its survival, with a reported 1-year survival rate reaching 29%. Despite this improvement, studies describing the clinical course of individuals with trisomy 18 beyond the first year of life remain scarce. Moreover, to our knowledge, cases of Kawasaki disease with trisomy 18 have not been reported.</p><p><strong>Case presentation: </strong>We report a case of a 3-year-11-month-old girl with trisomy 18 who presented with persistent fever and rash and, subsequently, fulfilled five of the six principal diagnostic criteria for Kawasaki disease. Because intravenous immunoglobulin resistance was predicted based on the Kobayashi score, initial treatment consisted of intravenous immunoglobulin (2 g/kg), aspirin, and oral cyclosporine concurrent with current Japanese guidelines. Defervescence was achieved without complications, and no adverse events were observed during treatment. No coronary artery abnormalities were observed during the acute phase or at 1-, 3-, and 6-month follow-up evaluations.</p><p><strong>Discussion: </strong>We present a case of trisomy 18 treated according to Japanese guidelines for Kawasaki disease. Treatment regimen, which included cyclosporine, was safely administered, and the patient experienced a favorable clinical course. To improve the life expectancy of this patient group, it is crucial to accumulate comprehensive natural history, including the efficacy of standard treatments for various pediatric conditions. This will enable timely and appropriate therapeutic interventions.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5048859"},"PeriodicalIF":0.5,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12921628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147269596","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 Neonatal Junctional Epidermolysis Bullosa With a LAMB3 Mutation: Diagnostic Journey and Interdisciplinary Management.","authors":"Prakash I Tete, Aswathy D S, Mohamed Rafi, Sushma B J","doi":"10.1155/crpe/7881859","DOIUrl":"10.1155/crpe/7881859","url":null,"abstract":"<p><p>A 20-year-old primigravida mother delivered a male infant at 35 weeks of gestation via normal vaginal delivery. The infant, born to consanguineous parents (second-degree cousins), had good Apgar scores (9 and 10 at 5 and 10 min) and was appropriate for gestational age with stable postnatal vitals. Family history was notable for the maternal uncle's death in 2013 due to epidermolysis bullosa (EB) complicated by sepsis. On Day 2 of life, the neonate developed peeling of the skin over the fingers, buttocks, and thighs. Dermatological evaluation raised suspicion of EB, and conservative wound care was initiated. The infant developed recurrent blisters and required intermittent respiratory support and antibiotics. An interdisciplinary team including neonatologists, dermatologists, geneticists, and pediatric surgeons coordinated management. Electron microscopy of the skin biopsy revealed a plane of cleavage at the level of the lamina lucida, suggesting junctional epidermolysis bullosa (JEB) or EB simplex. Subsequent exome sequencing identified a pathogenic mutation in the LAMB3 gene, confirming a diagnosis of JEB. This case highlights the importance of early recognition, family history, and genetic testing in the diagnosis and interdisciplinary management of inherited blistering disorders in neonates.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7881859"},"PeriodicalIF":0.5,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12917921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147269889","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":"Mucoepidermoid Carcinoma of the Right Bronchus in a Six-Year-Old Girl: A Rare Pediatric Case Report.","authors":"Daniela Kraljević, Ante Damjanović, Tamara Nikše, Ivan Pavić, Iva Mihatov Štefanović, Josip Pejić","doi":"10.1155/crpe/5552173","DOIUrl":"10.1155/crpe/5552173","url":null,"abstract":"<p><p>Primary lung neoplasms in children are uncommon, with a significant majority being metastatic. Among primary lung tumors, mucoepidermoid carcinoma (MEC) represents a rare entity, accounting for 0.1%-0.2% of cases. We present the case of a six-year-old girl who initially presented with right-sided pneumonia and pleural effusion. Despite initial antibiotic therapy, she exhibited persistent respiratory symptoms, leading to further investigation. Chest CT revealed a spherical mass obstructing the right main bronchus, confirmed via bronchoscopy as a yellowish-white formation. The pathological analysis indicated MEC. Surgical intervention involved a right thoracotomy with resection of the intermediate bronchus and inferior lobectomy. The patient recovered well postoperatively, with no tumor recurrence in follow-up examinations. This case highlights the need for a high index of suspicion for MEC in children with recurrent respiratory symptoms localized to the same lung region. Thorough diagnostic evaluation, including bronchoscopy, is crucial for appropriate management, as surgical resection remains the primary treatment modality and can result in excellent outcomes. Early diagnosis and intervention are essential to improving prognosis in pediatric patients with lung neoplasms.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5552173"},"PeriodicalIF":0.5,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146218591","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":"Perforated Meckel's Diverticulum in a Neonate With Bucket-Handle Anorectal Malformation: A Rare Surgical Emergency.","authors":"Umar Mahmood, Rija Khalid, Chaudhary Ehtsham Azmat, Wajeeh Ur Rehman, Sunaina Siddique, Raisa Bakhat","doi":"10.1155/crpe/2238981","DOIUrl":"10.1155/crpe/2238981","url":null,"abstract":"<p><strong>Background: </strong>Neonatal pneumoperitoneum is a life-threatening condition requiring urgent surgical intervention. Although Meckel's diverticulum (MD) and anorectal malformations (ARMs) are individually recognised congenital anomalies, their coexistence is uncommon, and perforated MD in a neonate with a bucket-handle ARM has been rarely described in the literature.</p><p><strong>Case presentation: </strong>A term male neonate (birthweight 2600 g) presented on Day 4 of life with progressive abdominal distension and nonbilious vomiting. Examination revealed tachycardia, tachypnoea, delayed capillary refill and a bucket-handle ARM with meconium staining. Abdominal radiograph showed free subdiaphragmatic air. Emergency laparotomy identified a 4-5 mm perforation at the tip of a MD located 40 cm proximal to the ileocaecal valve, with severe feculent contamination. A wedge diverticulectomy including the perforated segment was performed, the ileum was closed transversely in two layers and a divided sigmoid colostomy was fashioned. Recovery was uneventful.</p><p><strong>Discussion: </strong>Perforation occurs in only 3%-10% of symptomatic MD cases and is extremely rare in neonates, particularly with coexisting ARM. No prior literature describes perforated MD in a bucket-handle ARM. This case highlights the importance of thorough evaluation for associated gastrointestinal anomalies in ARM patients and raises the question of whether selective or routine screening is warranted.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2238981"},"PeriodicalIF":0.5,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12906237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146200272","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":"Recognizing Pathogenic PVCs in Children: A Case of Multifocal Ectopic Purkinje-Related Premature Contractions.","authors":"Lane McLendon, Akash Patel, Peter Aziz, Jeffrey Bennett, Mina K Chung, Lauren Mientkiewicz, Iqbal El-Assaad","doi":"10.1155/crpe/6496880","DOIUrl":"10.1155/crpe/6496880","url":null,"abstract":"<p><p>Premature ventricular contractions (PVCs) are a common and benign arrhythmia in children, but they can infrequently be a sign of an underlying cardiac issue that may predispose patients to heart failure and/or sudden cardiac death (SCD). A 13-year-old, otherwise, healthy female presented for a routine annual evaluation and was found to have an irregular heartbeat. Initial ECGs showed frequent multiform PVCs, premature junctional contractions (PJCs), and short nonsustained runs of ventricular tachycardia (NSVT). PVCs were characterized by sharp initial QRS deflection and relatively narrow QRS duration pointing toward an origin from the Purkinje system. Inpatient 24-h Holter monitor showed frequent multiform PVCs and short runs of NSVT with a 48% burden. Echocardiogram showed a structurally normal heart but moderately depressed left ventricular function. Family history was positive for several individuals on the paternal side who experienced SCD and cardiomyopathy. Specifically, her paternal aunt had symptomatic multiform PVCs which have been refractory to multiple antiarrhythmic medications and catheter ablations. Her aunt's genetic testing was significant for a variant of uncertain significance (VUS) in <i>SCN5A</i>. Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) was suspected and flecainide was started. Within a few days, she had resolution of ventricular arrhythmias and repeat echocardiogram showed improvement in function. This case provides general practitioners with an illustrative example of pathogenic PVCs in contrast to benign findings, aiding in early recognition and appropriate referral. It also represents an important example of MEPPC in a pediatric patient responding well to flecainide, which is of particular relevance to cardiologists and electrophysiologists.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6496880"},"PeriodicalIF":0.5,"publicationDate":"2026-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12905460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146200291","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":"Emergent Bedside Thoracotomy for Decompression of an Incarcerated Neonatal Bochdalek Hernia: A Case Report.","authors":"Julian Kolorz, Christopher Lindow, Tomasz Baranski, Martin May, Britta Hüning, Johanna Bialas, Anja Stein, Ursula Felderhoff-Müser, Michael Berger, Jan Sabo","doi":"10.1155/crpe/8858530","DOIUrl":"10.1155/crpe/8858530","url":null,"abstract":"<p><p>Congenital diaphragmatic hernia (CDH) is a rare and potentially life-threatening condition caused by incomplete diaphragm formation, allowing abdominal organs to herniate into the thoracic cavity. This typically results in pulmonary hypoplasia and, rarely, cardiac compression with subsequent cardiopulmonary collapse. We report the emergency management of a three-week-old term neonate with a previously undiagnosed left-sided Bochdalek hernia who presented at an external hospital with cardiac arrest and mediastinal shift due to massive obstructing enterothorax. Following stabilization and transfer to our hospital, a second cardiac arrest occurred in our neonatal intensive care unit (NICU). During cardiopulmonary resuscitation (CPR), an emergent bedside thoracotomy was performed, decompressing the thoracic cavity by exposing incarcerated bowel to the atmosphere, which led to the return of spontaneous circulation. Subsequent laparotomy revealed a small left-sided diaphragmatic defect with incarcerated bowel. CDH repair and temporary abdominal wall closure using a silo patch were performed. Secondary closure was achieved 5 days later. The patient was discharged without complications. This case highlights emergent bedside thoracotomy as a life-saving intervention in critical neonatal CDH.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8858530"},"PeriodicalIF":0.5,"publicationDate":"2026-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146200199","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":"Unmasking Lupus: Intracranial Hemorrhage as the Primary Clue in an Adolescent With Refractory Thrombocytopenia-A Case Report.","authors":"Bosaina Otour, Habiba Aboalela, Sulaima Taji, Razan Ismail, Ahmad AlHammada, Eman Omar","doi":"10.1155/crpe/7996356","DOIUrl":"10.1155/crpe/7996356","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a rare autoimmune disorder, rarely presenting with central nervous system (CNS) hemorrhage-especially cerebellar involvement. We report a previously healthy 17-year-old female presenting with severe thrombocytopenia and cerebellar hemorrhage, leading to a diagnosis of SLE. Recovery was dramatic and achieved by prompt multidisciplinary management, including neurosurgical intervention, immunosuppressive treatment, and intensive care. The case highlights the importance of considering SLE as a differential diagnosis of unexplained intracranial hemorrhage, particularly in adolescents presenting with cytopenia.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7996356"},"PeriodicalIF":0.5,"publicationDate":"2026-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12902694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146200245","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}