Case Reports in Pediatrics最新文献

{"title":"Pontocerebellar Hypoplasia Type 3 With Two Novel <i>PCLO</i> Gene Mutations: A Case Report.","authors":"Sethapong Lertsakulbunlue, Panithi Piyachon, Pitchaya Pichantianchai, Thanapat Chivaruangrot, Piradee Suwanpakdee, Boonchai Boonyawat","doi":"10.1155/crpe/1955363","DOIUrl":"https://doi.org/10.1155/crpe/1955363","url":null,"abstract":"<p><p>Pontocerebellar hypoplasia Type III (PCH3) is a rare, autosomal recessive neurodegenerative disorder linked to mutations in the <i>PCLO</i> gene, previously reported only in Omani populations. It presents with progressive microcephaly, intractable epilepsy, optic atrophy, and severe developmental delay. Here, we report the first documented case of PCH3 in an 8-year-old Thai girl with two novel <i>PCLO</i> truncation mutations. The patient presented with intractable epilepsy from 2 months of age and severe global developmental delay. Whole exome sequencing identified compound heterozygous mutations in the <i>PCLO</i> gene: c.9018_9037del (p.Tyr3007Ter) and c.8456del (p.Ala2819GlufsTer2), both of which were inherited from heterozygous parents. These mutations are predicted to result in a loss of Piccolo protein function. This case expands the mutational spectrum of <i>PCLO</i>-related PCH3 and highlights the importance of advanced molecular diagnostics in understanding and managing this rare neurodegenerative disorder. Given the lack of curative therapies, early genetic diagnosis is crucial in guiding patient care and genetic counseling.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"1955363"},"PeriodicalIF":0.7,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12259299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636196","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":"Posterior Reversible Encephalopathy Syndrome Leading to Diagnosis of Acute Postinfectious Glomerulonephritis in a Pediatric Patient: A Case Report.","authors":"Samuel B Hayworth, Desalyn L Johnson, Erinn O Schmit","doi":"10.1155/crpe/9946572","DOIUrl":"10.1155/crpe/9946572","url":null,"abstract":"<p><p><b>History:</b> An 8-year-old previously healthy female presented to the emergency department after new-onset seizure activity. Three days prior, she experienced severe headaches and rash over her left lower extremity. She developed nonbilious, nonbloody emesis on the day prior to admission. The morning of presentation, she was found unresponsive, exhibiting right gaze deviation and clenched jaw concerning for seizure activity. Further history revealed recent Group A streptococcal pharyngitis, which had been treated with a 10-day regimen of amoxicillin. During this time, her mother reported decreased oral intake but normal urinary output, without dysuria or hematuria. <b>Physical Examination:</b> Vital signs were notable for temperature of 101.7 degrees Fahrenheit, heart rate of 100 beats per minute, blood pressure of 167/97, respiratory rate of 28, and oxygen saturation of 96% on room air. The patient was drowsy but arousable. Her neck was supple without evidence of meningismus. A skin exam revealed an erythematous, crusting rash, resembling contact dermatitis on the left lower extremity below the knee. The patient was somnolent but oriented to self and able to follow simple commands. Cranial nerves II-XII were intact bilaterally. Sensory, motor, and coordination were unremarkable. <b>Laboratory, Imaging, and Procedures:</b> Laboratory findings included leukocytosis, microscopic hematuria, decreased C3 and C4 levels, and positive antistreptolysin O (ASO) titers. A lumbar puncture was conducted with unremarkable cerebrospinal fluid (CSF) indices. Imaging revealed hypoattenuation in the occipital lobes on computed tomography (CT) venogram and hyperintensities in bilateral occipital lobes on magnetic resonance imaging (MRI) T2 fluid-attenuated inversion recovery (FLAIR) sequences, consistent with posterior reversible encephalopathy syndrome (PRES). <b>Discussion:</b> PRES in pediatric patients has been associated with a variety of conditions including hypertension (idiopathic or secondary), renal disorders, autoimmune disorders, and hematologic or oncologic conditions. However, PRES secondary to acute postinfectious glomerulonephritis (PIGN) is rare. Hematuria on the urinalysis led to obtaining complement levels, and further elucidation of history helped to narrow the differential to PIGN due to streptococcal infection with confirmatory positive ASO antibody titer. This case highlights a rare sequala of a commonly seen pediatric infection.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9946572"},"PeriodicalIF":0.7,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12240652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599544","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 Septic Shoulder Joint Masquerading as Brachial Plexus Palsy: A Case Report and Review of the Literature.","authors":"Adam Townson, Calver Pang, Lambrini Theocharidou, Sam Bostock, Charles Yuen Yung Loh","doi":"10.1155/crpe/7517956","DOIUrl":"10.1155/crpe/7517956","url":null,"abstract":"<p><p><b>Case:</b> A 2-week-old girl presented to the hospital with a 1-day history of decreased spontaneous movements of her left arm at the shoulder and elbow. There was no history of trauma, and she was otherwise well. Clinically, there was evidence of a C5/6 palsy. MRI of the left shoulder demonstrated an effusion and synovial thickening at the left glenohumeral joint. She was managed with a surgical washout of the joint and intravenous antibiotics. At a 7-month follow-up, she demonstrated a symmetrical range of movement in both shoulders with no signs of acute or chronic infection on X-ray. <b>Conclusion:</b> Septic arthritis of the glenohumeral joint presents insidiously in neonates and infants without typical signs of infection. Neonates and infants presenting with suspected brachial plexus palsy without a convincing history of trauma should raise suspicion of underlying joint infection and be investigated accordingly with blood tests and a low threshold for imaging of the shoulder to facilitate early diagnosis and management.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"7517956"},"PeriodicalIF":0.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12204742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526553","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":"Lymphatic Obstruction and Edema in Neonate due to Left Subclavian Central Venous Catheter.","authors":"Klaas Koop, Dominique Valérie Clarence de Jel, Joppe Nijman, Barbara Peels, Ellis Peters","doi":"10.1155/crpe/2811167","DOIUrl":"10.1155/crpe/2811167","url":null,"abstract":"<p><p>There are several causes of generalized edema in sick neonates. We describe two newborns that developed progressive and treatment-resistant generalized edema. We suggest this is due to impaired lymphatic flow from the thoracic duct as a result of a central venous catheter in the left subclavian vein.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"2811167"},"PeriodicalIF":0.7,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144483262","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 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":"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":"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}