{"title":"Gross Hematuria and Hemolytic Anemia in Infectious Mononucleosis.","authors":"Chinmayi Sharma, Navneet Venugopal, Shivaiah Balachandra","doi":"10.1155/2024/5236969","DOIUrl":"https://doi.org/10.1155/2024/5236969","url":null,"abstract":"<p><p><i>Introduction</i>. Infectious mononucleosis (IM), caused by the Epstein-Barr virus (EBV), typically presents with fever, tonsillopharyngitis, and lymphadenopathy while rare, renal, and hematological complications such as gross hematuria and hemolytic anemia can occur, particularly in children. <i>Case Presentation</i>. We describe a 15-year-old male with infectious mononucleosis presenting with abdominal pain, sore throat, and red-colored urine for three days. Laboratory findings revealed leukocytosis, elevated liver enzymes, and hemoglobinuria. Serological testing confirmed EBV infection. Despite intravascular hemolysis, the patient's anemia was mild, and he responded well to supportive care. <i>Discussion</i>. Gross hematuria and hemolytic anemia are uncommon in IM, with limited reports. Proposed mechanisms include viral-induced renal injury and autoimmune hemolysis. Differential diagnosis should consider other causes of hematuria, which can be differentiated through urine microscopy and serological tests. IM should be considered in patients with pharyngitis and hematuria, especially when other causes are excluded.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"5236969"},"PeriodicalIF":0.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11412744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142280603","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}
Mehdi Hosseini, Hassan Zamani, Shadi Moghimi, Aref Nekoufar
{"title":"A Case Report of Thoracic Ectopia Cordis in a Hospital in Zanjan, Iran.","authors":"Mehdi Hosseini, Hassan Zamani, Shadi Moghimi, Aref Nekoufar","doi":"10.1155/2024/3912085","DOIUrl":"https://doi.org/10.1155/2024/3912085","url":null,"abstract":"<p><strong>Methods: </strong>A 17-week-old female neonate with a history of prenatal diagnosis of congenital heart anomaly was admitted to Ayatollah Mousavi Hospital in Zanjan, Iran. For the diagnosis of thoracic ectopia, cordis fetal echocardiography and ultrasonography were performed. Moreover, the noninvasive prenatal testing (NIPT) genetic test performed in the 10th week of pregnancy was evaluated.</p><p><strong>Results: </strong>The neonate was diagnosed with thoracic ectopia cordis, with the heart located outside the thoracic cavity and covered by a thin membrane. The Z scores of the analyzed maternal venous blood chromosomes were between +6 and -6, and all chromosomes had a low risk in terms of the risk of birth defects. The results of this study revealed that genetic test analysis is not enough to diagnose and predict congenital anomalies and defects. Furthermore, the findings showed that the fetus's mother continued to take folic acid after the first 3 months of pregnancy. This can be one of the risk factors involved in causing this heart defect.</p><p><strong>Conclusion: </strong>One of the important results of this study was that the diagnostic findings of ultrasound were normal, but the findings of echocardiography were reported as abnormal. This shows that fetal echocardiography is better than ultrasound imaging in diagnosing ectopia cordis. In addition, it is recommended that pregnant women should avoid taking folic acid after the first trimester of pregnancy.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"3912085"},"PeriodicalIF":0.7,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142280602","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":"Successful Repair and Management of Severe Scalp Avulsion Incurred during Birth in an Extremely Low Birth Weight Infant.","authors":"Shoko Takahashi, Yu Kanai, Yayoi Miyazono, Daisuke Hitaka, Yuki Fujita, Yoichiro Shibuya, Hidetoshi Takada","doi":"10.1155/2024/8122801","DOIUrl":"https://doi.org/10.1155/2024/8122801","url":null,"abstract":"<p><strong>Introduction: </strong>Minor head trauma, such as scalp abrasion, is relatively common during vaginal delivery, whereas fatal head trauma is rare. This case report describes the successful repair and management of severe scalp avulsion that occurred during vaginal delivery and consequent hemorrhagic shock in an extremely low birth weight infant. <i>Case Presentation</i>. An extremely low birth weight infant (26 weeks' gestational age) sustained extensive scalp avulsion during vaginal delivery that exposed the skull. The scalp laceration began in the frontal temporal region and extended bilaterally along the temporal region for 20 cm. The infant experienced hemorrhagic shock soon after birth due to bleeding from the wound and was placed in a closed incubator for intensive care. At 7 h after birth, the wounds were repaired using sutures. Bleeding was quickly controlled, and the infant recovered from hemorrhagic shock. A wet dressing was applied to the wound, and the flap healed without necrosis.</p><p><strong>Conclusion: </strong>We successfully repaired severe scalp avulsion in this case. Scalp avulsion can cause severe bleeding and death. Bleeding control and the preservation of circulation are the most important factors in its repair and maintenance. In this case, suturing the wound effectively controlled the bleeding, and the application of wet dressing and a high-humidity environment thereafter may have contributed to the scalp's engraftment.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"8122801"},"PeriodicalIF":0.7,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142280604","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":"Hepatic Failure and Hyperbilirubinemia Secondary to Hemolytic Disease of the Newborn.","authors":"Matthew Reinhardt, Marya L Strand, Dajana Sabic","doi":"10.1155/2024/9180404","DOIUrl":"10.1155/2024/9180404","url":null,"abstract":"<p><p>Anti-D antibody is the most common cause of hemolytic disease of the newborn (HDN). Other antigens have emerged, causing significant damage to the newborn. We report a case of a 31-week dichorionic diamniotic twin born emergently to a mother with anti-C and anti-D antibodies who required multiple percutaneous umbilical cord blood sampling (PUBS) and transfusions. Extensive resuscitation at birth was required due to severe anemia, hypovolemia, and prematurity. Ensuing liver damage occurred with subsequent profound coagulopathy, transaminitis, and direct hyperbilirubinemia that required significant support. This patient developed several unique findings including the inability to monitor oxygen saturations due to dermal bilirubin deposits and staining of baby teeth. This case report highlights the importance of early identification of additional Rh antibodies due to concern for development of more severe forms of HDN.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"9180404"},"PeriodicalIF":0.7,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11535193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582116","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}
Ross M Perry, Scott D Casey, Alex Q Lee, Sylvia P Bowditch, Mary A Rasmussen, Viyeka Sethi, Arun R Panigrahi
{"title":"SARS-CoV-2-Triggered Hemophagocytic Lymphohistiocytosis with Complications of Posterior Reversible Encephalopathy Syndrome.","authors":"Ross M Perry, Scott D Casey, Alex Q Lee, Sylvia P Bowditch, Mary A Rasmussen, Viyeka Sethi, Arun R Panigrahi","doi":"10.1155/2024/8829060","DOIUrl":"10.1155/2024/8829060","url":null,"abstract":"<p><p>In this article, we describe a novel case of SARS-CoV-2-associated-hemophagocytic lymphohistiocytosis (HLH) complicated by posterior reversible encephalopathy syndrome (PRES). Initially diagnosed with multisystem inflammatory response in children (MIS-C), the patient received a large corticosteroid dose days before the onset of neurological symptoms. After developing PRES, the patient was treated with antihypertensives, antiepileptics, dexamethasone, and anakinra, leading to neurologic normalization. We propose that given the challenging diagnostic picture of PRES developing in patients with HLH or MIS-C, institutionalized standards for blood pressure management during corticosteroid induction may significantly improve outcomes in patients being treated for hyperinflammatory syndromes who develop neurological symptoms.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"8829060"},"PeriodicalIF":0.7,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11303060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141896884","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":"Preductal Hemodynamic Redistribution in Preterm Infants with Patent Ductus Arteriosus.","authors":"Aimann Surak","doi":"10.1155/2024/7239698","DOIUrl":"10.1155/2024/7239698","url":null,"abstract":"<p><p>A patent ductus arteriosus is a common entity in preterm infants. Literature is lacking regarding physiological effects on preductal circulation. This report describes 3 patients with abnormal flow Doppler pattern in brachiocephalic artery. Further research is warranted to better understand the impact of PDA on preductal circulation.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"7239698"},"PeriodicalIF":0.7,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141892979","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}
Corina Ramona Nicolescu, Lucie Bazus, Jean-Louis Stephan
{"title":"Severe Acquired Hypothyroidism and Van Wyk-Grumbach Syndrome in Two Children.","authors":"Corina Ramona Nicolescu, Lucie Bazus, Jean-Louis Stephan","doi":"10.1155/2024/8919177","DOIUrl":"10.1155/2024/8919177","url":null,"abstract":"<p><p>The primary manifestations of chronic hypothyroidism in children include growth arrest, delayed skeletal maturity, and delayed puberty. In 1960, Van Wyk and Grumbach reported three girls with hypothyroidism and a combination of incomplete isosexual precocious puberty (early breast development, menstruation, and absence of pubic hair), galactorrhea, delayed bone age, and pituitary enlargement. All abnormalities regressed after appropriate thyroid hormone replacement therapy. Over the years, an increasing number of reported cases has allowed for a more precise understanding of the clinical, biochemical, and radiological phenotypes of the Van Wyk-Grumbach syndrome (VWGS). These varying clinical manifestations are thought to result from a unique pathophysiological process where the thyroid-stimulating hormone (TSH) is a key element. We describe the cases of two patients (a boy and a girl) with severe autoimmune thyroiditis and VWGS. The clinical, biochemical, and radiological imaging characteristics were similar in both patients and included growth failure, absence of clinical goiter, markedly elevated TSH concentrations >100 mIU/L, undetectable free thyroxine levels, \"normal\" thyroglobulin levels, high follicle-stimulating hormone (FSH) and prolactin levels, prepubertal levels of luteinizing hormone (LH), delayed bone age, and hyperplasia of the pituitary gland. The two patients displayed differences, especially in the absence of clinical pubertal development, moderate anemia, abnormal renal function, and moderate goiter detected via ultrasonography (in the female patient). Thyroxine replacement therapy reversed the VWGS phenotype and hypothyroidism, with satisfactory growth velocity, strictly normal thyroid function, and normal pituitary size detected via magnetic resonance imaging at the 6-month follow-up visit.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"8919177"},"PeriodicalIF":0.7,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11251785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626113","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}
Reza Abbaszadeh, Fatemeh Naderi, Amir Hossein Jalali, Yaser Toloueitabar
{"title":"Cardiac Myxoid Spindle Cell Tumor in a Neonate.","authors":"Reza Abbaszadeh, Fatemeh Naderi, Amir Hossein Jalali, Yaser Toloueitabar","doi":"10.1155/2024/8630268","DOIUrl":"10.1155/2024/8630268","url":null,"abstract":"<p><p><i>Introduction</i>: Different subtypes of cardiac tumors containing spindle cells have been described as cardiac sarcoma. However, benign types have not been reported so far. We described a neonate with progressive respiratory distress who had a PDA and was finally diagnosed with a right atrial spindle cell tumor. <i>Case Presentation:</i> The patient was a neonate referred with respiratory distress and sepsis. The initial echocardiography demonstrated a small atrial septal defect, patent ductus arteriosus, and a heterogeneous rounded right atrial mass lesion. Pathologic examination confirmed the right atrial myxoid spindle cell tumor without local invasion. Successful mass resection was performed, and follow-up echocardiography revealed normal cardiac structure and function. <i>Conclusion</i>: In infants with manifestations of possible cardiac anomalies, it is necessary to consider other pathologies, such as neoplastic processes. Spindle cell detection in pathology is not ominous all the time, and there are benign subtypes with favorable outcomes after successful surgical resection.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"8630268"},"PeriodicalIF":0.7,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11221945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497154","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}
Elizabeth Feenstra, Aalt Van Roest, Juul Boes, Tom Spiritus, Sandra Kenis, Els L I M Duval, Stephanie Vanden Bossche, Koen Vanden Driessche, Philippe G Jorens
{"title":"A Pediatric Case of <i>Fusobacterium necrophorum</i> Mastoiditis and Meningitis Case Report in a Healthy Child and Review of the Literature.","authors":"Elizabeth Feenstra, Aalt Van Roest, Juul Boes, Tom Spiritus, Sandra Kenis, Els L I M Duval, Stephanie Vanden Bossche, Koen Vanden Driessche, Philippe G Jorens","doi":"10.1155/2024/6365796","DOIUrl":"10.1155/2024/6365796","url":null,"abstract":"<p><p>In infants and children, bacterial meningitis caused by anaerobic bacteria is rare. However, a serious infection with the anaerobe <i>Fusobacterium necrophorum</i> can occur in previously healthy children with a peak incidence in preschool children and in adolescents. As the clinical presentation can be very similar to meningitis caused by aerobic bacteria, one should consider <i>Fusobacterium necrophorum</i> as the causative agent when preceded by or associated with otitis media with purulent otorrhea or mastoiditis, in combination with minimal or no improvement on empiric antibiotic treatment. As this pathogen can be difficult to culture, anaerobic cultures should be obtained. Prompt treatment with a third-generation cephalosporin and metronidazole should be initiated once suspected or confirmed. Surgical source control is often necessary, but even with adequate and prompt treatment, the morbidity and mortality in children with a <i>Fusobacterium necrophorum</i> meningitis remains high. In this report, we describe a case of <i>Fusobacterium necrophorum</i> meningitis in a previously healthy child and review the available literature.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"6365796"},"PeriodicalIF":0.7,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11208823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466410","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}
Katia Margiotti, Francesco Libotte, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino
{"title":"Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.","authors":"Katia Margiotti, Francesco Libotte, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino","doi":"10.1155/2024/4896940","DOIUrl":"10.1155/2024/4896940","url":null,"abstract":"<p><strong>Background: </strong>The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype. DSD incidence is reported as 2 in 10,000 births, and the etiology has been attributed to genetic causes. <i>Case Presentation</i>. The present study investigated genetic causes implicated in a case of a 15-year-old 46, XY patient, raised as a girl. Genetic analysis by clinical exome sequencing (CES) showed a digenic inheritance due to two known pathogenic mutations in the DHX37 gene and the MAMLD1 gene, while we excluded variants with pathogenic significance in 209 DSD-related genes.</p><p><strong>Conclusions: </strong>Based on our literature review, this is the first case with the combined presence of pathogenic mutations in the MAMLD1 gene and DHX37 gene in a patient with gonadal dysgenesis.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"4896940"},"PeriodicalIF":0.7,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11221946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497155","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}