Bassel Hafez, Joudie Sahar Alwan, Walid El Hout, Karim Koussa, Tamara El Annan, Dolly Noun, Ahmad Zaghal
{"title":"Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review.","authors":"Bassel Hafez, Joudie Sahar Alwan, Walid El Hout, Karim Koussa, Tamara El Annan, Dolly Noun, Ahmad Zaghal","doi":"10.1155/crpe/7680840","DOIUrl":"https://doi.org/10.1155/crpe/7680840","url":null,"abstract":"<p><p>Neurofibromatosis type 2 (NF2), also known as NF2-related schwannomatosis (SWN), is a rare dominantly inherited genetic disorder mainly characterized by the presence of vestibular schwannomas (VSs) in addition to a range of other tumors that affect both the central and peripheral nervous systems. These tumors include cranial, spinal, peripheral nerve, and intradermal schwannomas, cranial and spinal meningiomas, and intrinsic central nervous system (CNS) tumors, usually spinal ependymomas. Juvenile cataracts are also common in patients with NF2, with most symptoms at presentation being hearing loss and visual disturbances. We present the case of a previously healthy 12-year-old girl who presented with postprandial right upper quadrant pain and was found to have a large hydrops of the gallbladder on ultrasound scan of the abdomen. Pathology of the gallbladder post laparoscopic cholecystectomy showed diffuse involvement of the gallbladder by a benign nerve sheath tumor that was suggestive of schwannoma. Further testing confirmed the diagnosis of NF2. This case helps shed light on unusual NF2 symptoms and underscores the importance of recognizing atypical presentations for timely intervention and management. It also adds value to a multidisciplinary approach in diagnosing and managing NF2.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"7680840"},"PeriodicalIF":0.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142766525","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}
Daliya George, Malini Rajandran, Habib Bhurawala, Gary M Leong
{"title":"An Uncommon Presentation of Hamman's Syndrome in an Adolescent With Acute Diabetic Ketoacidosis and Newly Diagnosed Type 1 Diabetes.","authors":"Daliya George, Malini Rajandran, Habib Bhurawala, Gary M Leong","doi":"10.1155/2024/1168472","DOIUrl":"10.1155/2024/1168472","url":null,"abstract":"<p><p>Hamman's syndrome, a rare complication of diabetic ketoacidosis (DKA), is characterized by subcutaneous emphysema and spontaneous pneumomediastinum. This case report discusses the occurrence of Hamman's syndrome in an 11-year-old adolescent male newly diagnosed with type 1 diabetes mellitus (T1DM) and presenting with severe DKA. The patient exhibited symptoms typical of DKA, including polydipsia, polyuria, abdominal pain, and fatigue, alongside signs such as dehydration, Kussmaul breathing, and tachycardia. Following initial management with intravenous fluids and insulin infusion, he was transferred to a tertiary children's hospital for further care. Subsequently, on routine examination, he exhibited bilateral neck crepitus and a mediastinal crunching sound on auscultation, indicative of Hamman's syndrome. Conservative management led to symptom resolution, and the patient was discharged with follow-up arranged. This case highlights the importance of recognizing Hamman's syndrome as a potential complication of DKA in pediatric patients. Prompt diagnosis and management, along with differentiation from more severe conditions like Boerhaave's syndrome, are crucial for ensuring favorable outcomes. Further awareness and understanding of this rare syndrome are essential for optimal patient care and management.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"1168472"},"PeriodicalIF":0.7,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557260","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}
Ke-Yun Chao, Chao-Yu Chen, Xiao-Ru Ji, Shu-Chi Mu, Yu-Hsuan Chien
{"title":"Helmet Ventilation in a Child with COVID-19 and Acute Respiratory Distress Syndrome.","authors":"Ke-Yun Chao, Chao-Yu Chen, Xiao-Ru Ji, Shu-Chi Mu, Yu-Hsuan Chien","doi":"10.1155/2024/5519254","DOIUrl":"10.1155/2024/5519254","url":null,"abstract":"<p><strong>Background: </strong>In pediatric patients with severe COVID-19, if the respiratory support provided using high-flow nasal cannula (HFNC) becomes insufficient, no definitive evidence exists to support the escalation to noninvasive ventilation (NIV) or mechanical ventilation (MV). <i>Case Presentation</i>. A 9-year-old boy being treated with face mask-delivered biphasic positive airway pressure ventilation developed fever, tachypnea, and frequent desaturation. The COVID-19 polymerase chain reaction test and urine antigen test for <i>Streptococcus pneumoniae</i> were both positive, and sputum culture yielded <i>Pseudomonas aeruginosa</i>. The do-not-resuscitate order precluded the use of endotracheal intubation. After 2 h of HFNC support, the respiratory rate oxygenation (ROX) index declined from 7.86 to 3.71, indicating impending HFNC failure. A helmet was used to deliver NIV, and SpO<sub>2</sub> was maintained at >90%. Dyspnea and desaturation gradually improved, and the patient was switched to HFNC 6 days later and discharged 10 days later.</p><p><strong>Conclusion: </strong>In some cases, acute respiratory distress syndrome severity cannot be measured using the oxygenation index or oxygenation saturation index, and the SpO<sub>2</sub>/FiO<sub>2</sub> ratio and ROX index may serve as useful alternatives. Although NIV delivered through a facemask or HFNC is more popular than helmet-delivered NIV, in certain circumstances, it can help escalate respiratory support while providing adequate protection to healthcare professionals.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"5519254"},"PeriodicalIF":0.7,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142342260","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}
Mrinal Shrestha, Anish Joshi, Ajit Pandey, Aashutosh Chaudhary, Aman Raj Shrestha, Naman Koju, Sujan Timilsina, Ashlesha Chaudhary
{"title":"Acute Disseminated Encephalomyelitis Presenting with Neuropsychiatric Symptoms.","authors":"Mrinal Shrestha, Anish Joshi, Ajit Pandey, Aashutosh Chaudhary, Aman Raj Shrestha, Naman Koju, Sujan Timilsina, Ashlesha Chaudhary","doi":"10.1155/2024/9810844","DOIUrl":"https://doi.org/10.1155/2024/9810844","url":null,"abstract":"<p><strong>Background: </strong>Acute disseminated encephalomyelitis (ADEM) is a rare immune-mediated pathology involving inflammatory demyelination of the central nervous system. <i>Case Presentation</i>. In this case report, we present the case of a nine-year-old female who exhibited altered mental status and focal neurological deficit, subsequently diagnosed as ADEM based on clinical presentation and magnetic resonance imaging (MRI) findings. The patient was managed symptomatically along with glucocorticoids.</p><p><strong>Conclusion: </strong>ADEM must be suspected when a patient, especially a child, presents with prodromal symptoms followed by multifocal neurological symptoms. Diagnosis can be established with an MRI brain scan. Most patients respond to high-dose intravenous glucocorticoids.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"9810844"},"PeriodicalIF":0.7,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142342259","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":"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}