Case Reports in Pediatrics最新文献

{"title":"Neurophysiological Testing is Useful for the Diagnosis and Treatment of Neuropsychiatric Systemic Lupus Erythematosus.","authors":"Erika Hidawa, Moe Yoshimura, Takuya Endo, Hideo Yamanouchi, Yuko Akioka","doi":"10.1155/crpe/8637806","DOIUrl":"10.1155/crpe/8637806","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by multiorgan damage mediated by multiple autoantibodies. The nervous system is one of the target organs of SLE, presenting as neuropsychiatric SLE (NPSLE), which includes central nervous system (CNS) involvement, peripheral neuropathy, and psychiatric symptoms. These symptoms are not necessarily associated with systemic disease activity and are often challenging to diagnose. We report an 11-year-old girl presenting with persistent fever and mild headache. Based on clinical and laboratory findings, she was diagnosed with SLE complicated by antiphospholipid antibody syndrome. Brain magnetic resonance imaging revealed multiple small lesions in the bilateral deep white matter of the frontal lobes, with high signal intensity on diffusion-weighted imaging and low signal intensity on apparent diffusion coefficient maps, consistent with multiple cerebral infarcts. Although multiple cerebral infarcts were present in this case, no localized clinical symptoms corresponding to the infarct locations were observed, and the case did not meet the definition of NPSLE. Conversely, electroencephalography (EEG) revealed diffuse high-amplitude slow waves in the occipital region, and short-latency somatosensory evoked potentials (SSEPs) showed absence of the N20 component at C3' following right median nerve stimulation. These neurophysiological findings supported a comprehensive diagnosis of CNS NPSLE. These abnormalities gradually improved during immunosuppressive treatment. NPSLE represents one of the most challenging organ-specific manifestations to diagnose in pediatric SLE due to its complex and heterogeneous clinical presentation and the absence of standardized diagnostic screening methods. Unlike lupus nephritis, complement consumption is not necessarily involved in the pathogenesis of NPSLE. Therefore, NPSLE may remain undiagnosed unless clinically suspected. In this case, abnormal EEG findings and absence of the N20 component on SSEP suggested ischemic changes due to cerebrovascular disease, enabling a comprehensive diagnosis of CNS NPSLE. Neurophysiological testing proved useful for early diagnosis of NPSLE and evaluation of treatment efficacy.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8637806"},"PeriodicalIF":0.5,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13315123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148359298","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 Idiopathic Dacryoadenitis in an Infant: A Case Report and Review of the Literature.","authors":"Jai Paris, Abdullah I Almater, Khizar Rana, Theresa Power, James Slattery, Dinesh Selva","doi":"10.1155/crpe/5236578","DOIUrl":"10.1155/crpe/5236578","url":null,"abstract":"<p><p>Dacryoadenitis is most commonly caused by infectious, inflammatory or neoplastic processes. Idiopathic dacryoadenitis is exceptionally rare in children. We present a case of a 22-month-old previously healthy boy with progressive bilateral eyelid swelling, conjunctival chemosis and ocular discharge without systemic features. He was initially treated for atypical conjunctivitis but failed antimicrobial therapy and continued to deteriorate clinically. Investigations including bacterial swabs, viral serology and autoimmune testing were negative. Magnetic resonance imaging demonstrated bilateral lacrimal gland enlargement. Lacrimal gland biopsy revealed chronic lymphoplasmacytic inflammation without vasculitis or increased IgG4-positive plasma cells. The patient was diagnosed with idiopathic dacryoadenitis and responded rapidly to systemic corticosteroids, with complete resolution within 3 weeks. This case highlights the diagnostic challenge of paediatric dacryoadenitis and the importance of early imaging and tissue diagnosis in atypical or progressive cases.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5236578"},"PeriodicalIF":0.5,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13312982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148350885","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":"Abdominal Pain and Hyperlactatemia in Thiamine Deficiency: A Case Report.","authors":"Luciana Melo Campos, Roberto José Negrão Nogueira, Mariana Tresoldi das Neves Romaneli, Maria Giovana Oliveira Farias, Joaquim Bustorff-Silva","doi":"10.1155/crpe/4401612","DOIUrl":"10.1155/crpe/4401612","url":null,"abstract":"<p><p>An eight-year-old boy with recurrent abdominal pain, refusal to eat, gagging, and weight loss for five months experienced a sudden clinical deterioration after a gastrointestinal endoscopy with biopsy. Initially misdiagnosed with pancreatitis, he underwent hospitalization, fasting, and parenteral nutrition (PN) for 15 days. Despite this, his symptoms persisted, and serum lactate levels progressively increased. Transferred to a university hospital, abdominal beriberi was suspected, and intravenous thiamine was promptly administered. Symptoms resolved within 24 h. A review of the PN prescribed revealed the absence of thiamine, confirming the diagnosis. Healthcare professionals often associate thiamine deficiency with alcoholic adults presenting Wernicke encephalopathy; however, abdominal beriberi should also be considered in children with acute abdomen, especially when elevated serum lactate indicates impaired cellular metabolism due to thiamine deficiency.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4401612"},"PeriodicalIF":0.5,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13308657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148343960","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":"Access Barriers and Variable Response to Semaglutide in Severe Adolescent Obesity: A Case Series.","authors":"Angela-Tu Nguyen, Jessica L Binkley","doi":"10.1155/crpe/5562574","DOIUrl":"10.1155/crpe/5562574","url":null,"abstract":"<p><p>Pediatric obesity is a worsening public health crisis, affecting 1 out of 5 youth in the United States. Once-weekly semaglutide has produced clinically meaningful BMI reduction in adolescents in randomized trials. However, trial cohorts and protocols may not reflect real-world care where patients are more diverse and may face access barriers-a factor that disproportionately affects minoritized groups. In this case report, we describe three adolescents of color with severe obesity treated in a multispecialty obesity clinic with lifestyle counseling and semaglutide. We summarize their clinical course, tolerability, access timelines, and BMI responses. All three reported improved appetite regulation and minimal side effects; however, their trajectories differed as their access and treatment courses varied, which likely affected their BMI outcomes. We will also discuss contextual factors that the general pediatrician should consider when interpreting BMI outcomes, including pubertal stage, gender and body composition, and physical activity. These cases highlight a gap in the literature between efficacy trials and real-world experience that involves access barriers and developmental factors in a diverse adolescent population.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5562574"},"PeriodicalIF":0.5,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13304229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148344003","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":"Patterned Clues in an Infant With Annular Rash and Seizures Revealing Kawasaki Disease.","authors":"Islam Elmitwalli, John A Ruth, Gabriela Moraru","doi":"10.1155/crpe/8346863","DOIUrl":"10.1155/crpe/8346863","url":null,"abstract":"<p><p>Kawasaki disease (KD) is a systemic vasculitis primarily affecting children, but its presentation can be highly variable, especially in young infants. While KD is classically associated with a polymorphous rash, annular or targetoid rashes are rare and can contribute to diagnostic uncertainty. Additionally, neurological complications such as seizures and aseptic meningitis are uncommon, further complicating recognition. We present a case with these atypical features, which closely mimic other conditions, including meningoencephalitis and reactive infection mucocutaneous eruption in children.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8346863"},"PeriodicalIF":0.5,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13304215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148343957","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 Toddler With Iron Deficiency Anemia Secondary to a Yolk Sac Tumor of the Stomach: A Case Report and Literature Review.","authors":"Nabil Saleem, Pamela B Sylvestre, Franklin L Chien, Raul S Gonzalez, Jose E Velázquez Vega, Sarah Mitchell","doi":"10.1155/crpe/9954122","DOIUrl":"10.1155/crpe/9954122","url":null,"abstract":"<p><p>Yolk sac tumors, a subset of malignant germ cell tumors originating from gonadal germ cells, most often present as ovarian or testicular tumors in adolescents, sometimes in combination with different types of histology as a mixed malignant germ cell tumor. We describe a female toddler presenting with severe iron deficiency anemia who was found to have a gastric pure yolk sac tumor. Pure yolk sac tumor of the stomach has rarely been reported and is even less frequent in the pediatric population. Our review of the medical literature found 12 case reports of gastric pure yolk sac tumor, of which only 1 was in a child, a 3-year-old male. Our patient underwent subtotal gastrectomy and received adjuvant systemic chemotherapy and is tumor-free at 3 years following surgery. This is the first reported case of a gastric pure yolk sac tumor in a pediatric female, brought to clinical attention due to significant gastrointestinal blood loss.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9954122"},"PeriodicalIF":0.5,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13286874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148315912","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":"The Critical Importance of Autopsy in Diagnosing Acute Idiopathic Pulmonary Hemorrhage of Infancy.","authors":"Michael Narvey, Deima Alammary","doi":"10.1155/crpe/9118262","DOIUrl":"10.1155/crpe/9118262","url":null,"abstract":"<p><p>We present the case of a newborn with acute idiopathic pulmonary hemorrhage of infancy. Clinicians should be aware of this possibility in a newborn with acute severe pulmonary hemorrhage. As this is a diagnosis of exclusion, consent for autopsy should be encouraged when this diagnosis is suspected to help better understand the scope of this condition.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9118262"},"PeriodicalIF":0.5,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13287336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148315955","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":"Septic Arthritis: A Very Uncommon but Remarkable Complication Revealing Bertolotti Syndrome in a Child.","authors":"Louis Mihluedo, Pierre Kambou, Edouard Loewenbruck, Mathilde Casson Masselin, Mathilde Margerin, Liviu Micle, Robin Giovara, Quentin Ballouhey","doi":"10.1155/crpe/9953341","DOIUrl":"10.1155/crpe/9953341","url":null,"abstract":"<p><strong>Background: </strong>Bertolotti syndrome is an uncommon cause of low back pain, particularly in children and adolescents. It is characterized by a lumbosacral transitional vertebra that may form a pseudoarticulation with the sacrum or ilium, potentially leading to mechanical and inflammatory complications. Septic arthritis involving this pseudoarticulation is exceptionally rare.</p><p><strong>Case presentation: </strong>A 13-year-old girl was admitted to our institution with fever and disabling low back pain. MRI revealed a neoarticulation between the enlarged transverse process of L5 and the sacrum, associated with imaging findings consistent with septic arthritis and a contiguous iliac abscess caused by <i>Staphylococcus aureus</i>.</p><p><strong>Clinical outcomes: </strong>The patient was successfully treated with targeted intravenous antibiotic therapy, and surgical drainage of the abscess was ultimately not required. To our knowledge, this represents one of the youngest reported patients with a severe infectious complication of Bertolotti syndrome.</p><p><strong>Conclusion: </strong>This case highlights a rare but serious complication of Bertolotti syndrome in the pediatric population. Early diagnosis and appropriate management are essential to prevent complications and long-term sequelae.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9953341"},"PeriodicalIF":0.5,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13282452/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293483","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":"Beyond the Immunization Schedule: Unmasking Vaccine Failure in a Child With Down Syndrome.","authors":"Stacy B Buchanan, Marissa Terry","doi":"10.1155/crpe/9928987","DOIUrl":"10.1155/crpe/9928987","url":null,"abstract":"<p><p>Children with Down syndrome (DS) commonly experience recurrent infections and may have altered immune responses to routine vaccinations. Primary care providers routinely monitor typical DS-associated comorbidities, but immunization effectiveness is not regularly assessed. Current guidelines recommend standard childhood vaccination schedules for children with DS, though evidence suggests some may have inadequate immune responses despite complete vaccination records. Here, we report the case of a 5-year-old child with DS who experienced frequent respiratory infections despite adherence to recommended immunizations and management of common comorbidities including cardiac disease, laryngomalacia, and gastroesophageal reflux disease. Following immunology consultation and administration of the 23-valent pneumococcal vaccine, the frequency of respiratory infections notably decreased. This case highlights the importance of considering vaccine response when evaluating recurrent infections in children with DS, even when routine immunization records are complete. The management approach demonstrated how broadening the differential diagnosis beyond typical DS-associated conditions and implementing additional immunization strategies can improve clinical outcomes. This case represents a possible approach that can inform shared decision-making discussions between clinicians and families of children with DS regarding immunization monitoring and enhanced vaccination strategies.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9928987"},"PeriodicalIF":0.5,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293536","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":"Intraoperative Discovery of Type II Choledochal Cyst, Partial Annular Pancreas, and Duodenal Stenosis in a 45-Day-Old Term Born Female Infant.","authors":"Andrea de Abreu E Gouvea, Michael Stellon, Teresa Chapman, Shelly M Cook, Adam Brinkman","doi":"10.1155/crpe/5914582","DOIUrl":"10.1155/crpe/5914582","url":null,"abstract":"<p><p>Type II choledochal cysts (CCs), a rare form of congenital biliary dilation characterized as a true diverticulum along the extrahepatic duct, comprise less than 2% of all cases. The coexistence of CC, annular pancreas (AP), and duodenal stenosis (DS) has been scarcely reported. We present the case of a 45-day-old female with a rare combination of congenital upper gastrointestinal anomalies discovered intraoperatively after imaging identified malrotation with concern for possible volvulus. The patient underwent exploratory laparotomy revealing a Type II CC, partial AP, and DS. Management included cyst excision, diamond-shaped duodenoduodenostomy, and Ladd procedure, after which the patient's recovery was uneventful. This case highlights the importance of maintaining a broad differential in infants with upper gastrointestinal tract obstruction and aims to improve awareness of these associated congenital pathologies.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5914582"},"PeriodicalIF":0.5,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293521","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}