Case Reports in Pediatrics最新文献

{"title":"A Finger on the Chin: Rare Report of a Faciomandibular Teratoma in a Nepalese Infant.","authors":"Ashish Lal Shrestha, Dakshata Shakya, Sagar Khadka, Pranita Gurung","doi":"10.1155/crpe/9921032","DOIUrl":"https://doi.org/10.1155/crpe/9921032","url":null,"abstract":"<p><p><b>Background:</b> Teratoma is a tumor usually consisting of tissues derived from multiple germ layers. A congenital teratoma occurring in the region of the head and neck is rare with barely 10 reports in the global literature since 1996. Of further rarity is its mandibular location. This probably represents the first report of its kind in the world in addition to being the first one to be reported from Nepal. <b>Case Presentation:</b> We report a case of an 11-month-old infant with a congenital appendage over the side of the chin that was treated with surgical excision and histologically confirmed as mature teratoma. <b>Conclusion:</b> Congenital facial teratoma in the mandibular location is a rare event. A principle combining appropriate surgical technique and correct oncological principles keeping esthetic appearance in mind is necessary for the best outcome.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9921032"},"PeriodicalIF":0.7,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12185173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474065","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":"Mometasone Furoate-Induced Iatrogenic Cushing's Syndrome and Secondary Adrenal Insufficiency: A Case Report.","authors":"Anna Insalaco, Sara Vandelli, Simona F Madeo, Patrizia Bruzzi, Viola Trevisani, Barbara Predieri, Laura Lucaccioni, Lorenzo Iughetti","doi":"10.1155/crpe/6109378","DOIUrl":"https://doi.org/10.1155/crpe/6109378","url":null,"abstract":"<p><p>Intranasal corticosteroids (INCS) are widely used to treat allergic rhinitis and nasal obstruction. While their safety profile is generally well established, both local and systemic side effects can occur. While it is well-known that a chronic exposure to systemic glucocorticoid treatment could determine Cushing's syndrome (CS) and suppression of the hypothalamic-pituitary-adrenal (HPA) axis, there is less awareness when the administration is topical or intranasal. We report the case of an 8-year-old Caucasian girl who developed Cushingoid features following prolonged INCS treatment-initially with betamethasone and subsequently with mometasone furoate. Endocrine testing revealed undetectable baseline and after stimulation cortisol levels, suggesting a condition of adrenal insufficiency secondary to the prolonged glucocorticoid exogenous administration. Temporary hydrocortisone replacement therapy was required. Even if extremely rare, pediatricians should be aware that high-dose and long-term nasal steroid administration may cause iatrogenic CS, as well as systemic glucocorticoid treatment. Clinical features are characterized by the complications of glucocorticoid excess and by the potential life-threatening complications of adrenal insufficiency. Pediatric follow-up should be scheduled during the prolonged steroid treatment and at discontinuation, with prompt referral to a Pediatric Endocrinologist if signs and symptoms of CS (or adrenal insufficiency) are noticed.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"6109378"},"PeriodicalIF":0.7,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12185198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474066","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":"Bitemporal Oedema in a Child: A Rare Manifestation of Epstein-Barr Virus Infection.","authors":"Kátia Maurício, Joana De Beir, Rita Alvelos, Inês Sobreira, Joana Santos","doi":"10.1155/crpe/7278571","DOIUrl":"10.1155/crpe/7278571","url":null,"abstract":"<p><p>Primary infection by the Epstein-Barr virus (EBV) is common in children, can affect multiple organs and be associated with a wide variety of clinical manifestations. We present the case of a 7-year-old female patient assessed in the emergency department for bitemporal swelling with a one-day evolution, following self-limiting odynophagia and fever 1 week earlier. Physical examination revealed a soft, bitemporal swelling, more evident on the right, painful on palpation, with no other inflammatory signs. The soft tissue ultrasound showed no alterations, and the CT scan showed thickening of the right parietotemporal epicranial soft tissues, of an imprecise nature. At a 2-week follow-up consultation, swelling had completely resolved. The serological study revealed previous contact with cytomegalovirus and positive EBV IgG and IgM with negative EBNA IgG and EA IgG, indicative of acute EBV infection. Bitemporal oedema is a very atypical and rare presentation of primary EBV infection, with very few cases previously reported. The aim of this clinical case is to draw attention to the importance of considering EBV infection in the differential diagnosis of situations like the one described.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"7278571"},"PeriodicalIF":0.7,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367947","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 Benign Renal Tumor With Serious Consequences: A Case Report of Juxtaglomerular Cell Tumor and Chronic Renal Disease in a Teenager.","authors":"Rachael Courtney, Erin Dahlinghaus, Abiodun Omoloja, Jeffrey T Boyd, Michelle Smith, Laura Biederman, Israel Ndengabaganizi, Daniel Keith Robie, Ahmad Al Dughiem","doi":"10.1155/crpe/9318115","DOIUrl":"10.1155/crpe/9318115","url":null,"abstract":"<p><p>Juxtaglomerular cell tumor (JGCT), or reninoma, is a rare benign renal neoplasm. It is characterized by severe hypertension and hypokalemia due to excessive renin produced from the juxtaglomerular apparatus on the afferent arteriole of the glomerulus. Herein, we report a case of JGCT in a 15-year-old female who presented with severe hypertension. She was found to have elevated levels of renin and aldosterone with hypokalemia and she responded to angiotensin-converting enzyme inhibitors (ACEi). Abdominal MRI demonstrated a 4-cm left renal tumor. A radical nephrectomy was performed, and histology showed a well-circumscribed tumor consisting of sheets of polygonal to ovoid cells consistent with a JGCT. After surgery, the renin and aldosterone levels normalized, and blood pressure was controlled with small dose of ACEi medication. Unfortunately, the patient remained in Stage III chronic kidney failure due to the longstanding damage of uncontrolled hypertension prior to the diagnosis. We hereby review the literature and discuss the differential diagnosis.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9318115"},"PeriodicalIF":0.7,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367946","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":"Suspected Ovotesticular Disorders of Sexual Differentiation in a Phenotypic Male With Ambiguous Genitalia, Light Menstrual Flow, and Synchronous Bilateral Dysgerminoma: A Case Report From Ethiopia.","authors":"Melkamu Siferih, Tesfaye Negasa, Muluken Yifru, Adane Sisay, Genetu Tadele, Tajudin Adem, Mikias Gebrie, Worku Taye","doi":"10.1155/crpe/7659991","DOIUrl":"10.1155/crpe/7659991","url":null,"abstract":"<p><p><b>Background:</b> Ovotesticular disorder of sexual differentiation (DSD) is one of the rarest congenital conditions affecting gonadal and sexual development, characterized by the coexistence of ovarian and testicular tissue within an individual. This condition often presents with ambiguous genitalia, atypical pubertal development, or unexpected menstrual activity. This case report details a 14-year-old phenotypic male with ambiguous genitalia, cyclic perineal bleeding, and synchronous bilateral dysgerminoma, underscoring the diagnostic complexities and management challenges encountered in resource-constrained settings. <b>Case Presentation:</b> A 14-year-old individual assigned male at birth and raised as a boy presented with progressive abdominal distension, cyclic perineal bleeding, and absent male secondary sexual characteristics. Physical examination revealed ambiguous genitalia, a small phallic structure, a perineal opening with menstrual blood, and no palpable gonads. Hormonal analysis revealed elevated lactate dehydrogenase and gonadotropins, low testosterone levels, and increased estradiol. Imaging revealed an abdominopelvic mass highly suggestive of ovarian malignancy, and vaginal exploration confirmed Müllerian structures. Laparotomy revealed a 16-cm × 18-cm right adnexal mass, and histopathology confirmed dysgerminoma. The patient was lost to follow-up but returned 6 months later with a contralateral (left) adnexal mass, prompting oncologic referral. <b>Conclusion:</b> Ovotesticular DSD with bilateral dysgerminoma is exceedingly rare and poses significant diagnostic and therapeutic challenges. Early diagnosis, multidisciplinary management, and timely oncologic intervention are crucial for optimizing patient outcomes, especially in resource-limited settings. This case underscores the critical need for heightened awareness, improved access to karyotyping, genetic and hormonal assessments, and long-term follow-up for individuals presenting with ambiguous genitalia and atypical pubertal development.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"7659991"},"PeriodicalIF":0.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367958","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":"Emergency Laparotomy for Abdominal Compartment Syndrome in a Child due to Chronic Functional Constipation.","authors":"Konstantinos Velaoras, George Pantalos, Christos Plataras, Ioannis Alexandrou, Jonida Mene, Konstantinos Filos, Abhisekh Chatterjee, Panagiotis Nikolinakos, Nikolaos Zavras","doi":"10.1155/crpe/5289632","DOIUrl":"10.1155/crpe/5289632","url":null,"abstract":"<p><p>Abdominal compartment syndrome (ACS) in children is a life-threatening complication with high morbidity and mortality. Stressful life events are among the risk factors of functional constipation (FC) in children. We present a 13-year-old male patient with chronic FC due to parents' separation who presented with a history of FC since infancy and inability to defecate during the last month. On examination, the abdomen was distended and tender. His vital signs revealed elevated blood pressure ≥ 95^th percentile according to his age weight and gender. On admission, the patient experienced tonic-clonic seizures refractory to medical therapy. He was intubated and a computed tomography (CT) scan revealed an extensive rectosigmoid bowel dilatation. Despite maximal medical support, his condition worsened. ACS was suspected and confirmed via intravesical measurement of intra-abdominal pressure (IAP). An urgent decompression laparotomy (DL) was performed with resection of the affected bowel. His condition improved postoperatively. This case highlights the extremely rare association between ACS and chronic FC resulting from stressful life events.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"5289632"},"PeriodicalIF":0.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144332524","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":"Facial Lesions as an Early Manifestation of Acute Leukemia in a Child With Down Syndrome: A Case Report.","authors":"Saeed Yousefian, Pedram Pirmoradian, Shirin Badihi","doi":"10.1155/crpe/5239975","DOIUrl":"10.1155/crpe/5239975","url":null,"abstract":"<p><p>A 19-month-old female with Down syndrome presented with recurrent left cheek swelling and left eye involvement, initially diagnosed as fasciitis/myositis and periorbital cellulitis. Despite empiric antibiotics, symptoms persisted. A whole-body CT scan revealed prominent lymph nodes, and a biopsy of the buccal mass showed myeloid sarcoma. Bone marrow aspiration confirmed acute myeloid leukemia. Following chemotherapy, the patient's symptoms resolved. This case underscores that acute leukemia may manifest as facial swelling or periorbital cellulitis, highlighting the importance of considering extramedullary myelosarcoma in cases of persistent, unexplained soft tissue swelling that does not respond to standard treatments.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"5239975"},"PeriodicalIF":0.7,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12173557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315960","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":"Pediatric Langerhans Cell Histiocytosis: Unifocal Localization in the Frontal Bone Presenting With Periorbital Swelling.","authors":"Armela Gorica, Chiara Zeroli, Giulia Franzini, Diana Krepysheva, Giacomo Fiorita, Giuseppe Robustelli, Mario Turri Zanoni, Stefano Chiaravalli, Maddalena Marinoni, Paolo Castelnuovo, Maurizio Bignami, Francesca De Bernardi","doi":"10.1155/crpe/8892923","DOIUrl":"10.1155/crpe/8892923","url":null,"abstract":"<p><p><b>Background:</b> Langerhans cell histiocytosis is a rare disease, the pathogenesis of which remains a subject of debate, with considerations of either a neoplastic origin or an inflammatory nature. It arises from the uncontrolled proliferation of immature myeloid dendritic cells, leading to their accumulation in various sites. Recent studies indicate that Langerhans cell histiocytosis is a clonal neoplastic disorder driven by mutations in the MAP kinase pathway. When the bones are involved, the condition is often asymptomatic, but it can cause pain or soft tissue swelling, with the skull being the most affected site. <b>Case Presentation:</b> We present the case of a 9-year-old boy who presented with painful left periorbital swelling. He initially underwent empirical medical therapy for suspected periorbital cellulitis. Due to a lack of improvement in symptoms, radiological assessment was subsequently performed, revealing frontoethmoidal-orbital bone resorption and a mass of ambiguous nature with peripheral enhancement in T1-weighted sequences. Following an ENT evaluation, a biopsy was performed using an endoscopic endonasal approach. The histological examination confirmed the presence of Langerhans cell histiocytosis, with unifocal localization in the frontal bone. Consequently, the patient began chemotherapy following the LCH-IV protocol, the international collaborative treatment protocol for children and adolescents with Langerhans cell histiocytosis. <b>Conclusions:</b> Langerhans cell histiocytosis is a rare disease that may present with involvement of the frontal and ocular regions. Although periorbital cellulitis is initially treated with first-line medical therapy, if there is no improvement, radiological assessment and subsequent histological examination become essential for prompt diagnosis and appropriate therapeutic intervention.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"8892923"},"PeriodicalIF":0.7,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198335","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":"Adolescents With Labial Enlargement Misdiagnosed as Labial Masses on Imaging.","authors":"Erin Isaacson, David A Bloom, Melina L Dendrinos","doi":"10.1155/crpe/6823679","DOIUrl":"10.1155/crpe/6823679","url":null,"abstract":"<p><p><b>Background:</b> Literature describing radiologic imaging of the adolescent labia is lacking and may lead to misdiagnoses and unnecessary medical care. <b>Cases:</b> Two adolescent patients presented with sudden-onset unilateral labia minora enlargement and underwent multiple imaging modalities which identified a discrete mass. One patient was diagnosed with aphthous ulcers after a prolonged emergency department stay, and the other underwent an exam under anesthesia for mass removal and was found to have an elongated labia minora rolled into itself. <b>Conclusion:</b> Labia minora enlargement in adolescents can be significant and may be mistaken for a discrete mass on radiologic imaging given a lack of literature on expected findings. Clinical correlation and understanding of age-appropriate etiologies of noninfectious labial swelling is crucial to avoid unnecessary medical therapies and procedures.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"6823679"},"PeriodicalIF":0.7,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12122161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180434","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":"Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature.","authors":"Gaetan-Nagim Degroot, Aurélie Empain, Laurence Dedeken, Anne Demulder, Laurence Rozen","doi":"10.1155/crpe/3076141","DOIUrl":"10.1155/crpe/3076141","url":null,"abstract":"<p><p>Pearson syndrome (PS) is a rare and fatal multisystem disorder caused by a mitochondrial DNA (mtDNA) deletion. Most patients develop refractory anemia in early infancy, rapidly followed by multiple complications such as failure to thrive, muscle hypotonia, pancreatic insufficiency, and renal tubulopathy. Although the definitive diagnosis is established by mtDNA sequencing, bone marrow (BM) cytology is a cornerstone of diagnosis, typically revealing precursor vacuolization and ring sideroblasts. We report here three cases of patients with PS encountered in our institution and summarize the clinical and hematological features of PS through a systematic review of the literature. The first symptoms mostly appear during the first month of life and rarely after 18 months. Hyporegenerative anemia, a hallmark of the disease, is the most common initial symptom, followed at a distance by neutropenia and thrombocytopenia. Gastrointestinal and metabolic symptoms such as failure to thrive and lactic acidosis are the most frequent non-hematological symptoms, even in the rare cases without hyporegenerative anemia. Vacuolization of BM precursors, observed in the vast majority of PS patient BMAs, is not influenced by the patient's age at sampling. Ring sideroblasts, the other feature of PS BMAs, are less frequent than progenitor vacuolization but increase significantly after 6 months of age. These abnormalities are just as common in patients with or without hematological symptoms, suggesting that BMA should be performed in all suspected PS cases, despite the absence of anemia. PS is a multisystem disorder requiring early diagnosis and a coordinate multidisciplinary management, involving clinicians and clinical biologists.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"3076141"},"PeriodicalIF":0.7,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149321","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}