Case Reports in Pediatrics最新文献_第2页

Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants. 一名携带 DHX37 和 MAMLD1 基因变异的患者性发育差异的双基因起源。

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Case Reports in Pediatrics Pub Date : 2024-06-12 eCollection Date: 2024-01-01 DOI: 10.1155/2024/4896940

Katia Margiotti, Francesco Libotte, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino

引用次数: 0

Airway Management for Massive Anterior Mediastinal Tumor Resection in an Infant: A Strategy Involving Spontaneous Breathing-Preserving Endotracheal Intubation under Intravenous Anesthesia. 婴儿大规模前纵隔肿瘤切除术的气道管理：静脉麻醉下气管内插管保留自主呼吸的策略。

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Case Reports in Pediatrics Pub Date : 2024-05-27 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1727612

Hiromi Matsuda, Ei Ito, Akiko Katsuike, Hirotsugu Okamoto

引用次数: 0

Pleuroparenchymal Fibroelastosis as a Late-Onset Pulmonary Toxicity after Treatment with Anticancer Chemotherapy for High-Risk Neuroblastoma 高危神经母细胞瘤抗癌化疗后迟发的肺部毒性--胸膜母细胞纤维增生症

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Case Reports in Pediatrics Pub Date : 2024-05-18 DOI: 10.1155/2024/4352032

Satoshi Yokoyama, Risa Kanai, Daisuke Fukao, Keigo Hamahata

引用次数: 0

Beyond the Neonate: A Delayed Presentation of Congenital Diaphragmatic Hernia in a 17-Year-Old 超越新生儿：一名 17 岁儿童先天性膈疝的延迟病例

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Case Reports in Pediatrics Pub Date : 2024-05-15 DOI: 10.1155/2024/7518183

Vivienne Vinton, Molly Posa, Maria N. Kelly, Janice A. Taylor, Jaclyn Otero

{"title":"Beyond the Neonate: A Delayed Presentation of Congenital Diaphragmatic Hernia in a 17-Year-Old","authors":"Vivienne Vinton, Molly Posa, Maria N. Kelly, Janice A. Taylor, Jaclyn Otero","doi":"10.1155/2024/7518183","DOIUrl":"https://doi.org/10.1155/2024/7518183","url":null,"abstract":"Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with acute respiratory distress in neonates. This case report highlights a 17-year-old female with recurrent episodes of acute left upper quadrant (LUQ) pain and no history of trauma or dietary change. A computerized tomography (CT) scan taken during her second presentation to the emergency department led to a diagnosis of left-sided CDH. She later had a successful laparoscopic diaphragmatic repair surgery and has remained symptom-free for over a year. Late-presenting CDH indicates a rare subset of cases diagnosed after one month of age. Late presentations comprise 5–25% of cases and become increasingly rare with age. Unlike neonatal CDH, which is associated with several comorbidities, late presentations often manifest as a standalone anomaly. When the correct diagnosis is made, uncomplicated surgical repair yields excellent long-term outcomes. However, delayed and incorrect diagnoses can result in serious morbidity. Late-presenting CDH has diverse clinical presentations and can elude diagnostic imaging. As a result, there is a need for heightened clinical suspicion. This report aims to enhance awareness of late-presenting CDH and explore challenges to prompt, accurate diagnosis. Ultimately, this study implores clinicians to consider this condition in patients with unexplained respiratory or gastrointestinal symptoms.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140977284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Brain Abscess due to Streptococcus intermedius after Spontaneous Esophageal Perforation in an Adolescent. 青少年自发性食管穿孔后中间链球菌引起的脑脓肿。

IF 0.9

Case Reports in Pediatrics Pub Date : 2024-05-09 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5593403

Sandra Mabel Camacho-Gomez, Javier Monagas, Robert Adam Noel, Luis Castagnini

引用次数: 0

Two Extremely Preterm Infants Discharged with a Home High-Flow Nasal Cannula for Severe Bronchopulmonary Dysplasia. 两名早产儿因严重支气管肺发育不良而使用家用高流量鼻导管出院。

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Case Reports in Pediatrics Pub Date : 2024-05-06 eCollection Date: 2024-01-01 DOI: 10.1155/2024/3266928

Yuichi Kubo, Takuya Tokuhisa, Hiroshi Ohashi

{"title":"Two Extremely Preterm Infants Discharged with a Home High-Flow Nasal Cannula for Severe Bronchopulmonary Dysplasia.","authors":"Yuichi Kubo, Takuya Tokuhisa, Hiroshi Ohashi","doi":"10.1155/2024/3266928","DOIUrl":"10.1155/2024/3266928","url":null,"abstract":"Home high-flow nasal cannula (HFNC) use in the neonatal field has become prevalent as a noninvasive respiratory support, but its application in home care remains rare. We report two cases in which a home HFNC was effective in managing extremely low-birth-weight infants with severe bronchopulmonary dysplasia (BPD). Case 1 was a male infant born at 22 weeks' gestation weighing 435 g. Case 2 was a female infant born at 23 weeks' gestation weighing 450 g. Both patients had mothers with chronic placental abruption or chorioamnionitis. They transitioned from invasive mechanical ventilation to nasal CPAP (nCPAP) at 45 days (case 1) and 50 days (case 2) old. Subsequently, at 324 days (case 1) and 90 days (case 2) old, they transitioned to a HFNC, demonstrating stable oxygenation and ventilation, but faced difficulty in removal. Considering the drawbacks of prolonged hospitalization, the patients were discharged using a home HFNC at 404 days (case 1) and 391 days (case 2) old. For case 1, the HFNC was set at 4 L/min of room air and 2 L/min of oxygen, whereas for case 2, it was set at 5 L/min of room air and 1 L/min of oxygen. These settings maintained an SpO2 above 90% and a pCO2 below 60 mmHg. An HFNC offers advantages over nCPAP owing to its lower invasiveness and reduced discomfort for long-term use. However, reports on the use of a home HFNC for BPD are scarce. In recent years, while premature infant mortality has decreased worldwide, the incidence of BPD has risen, necessitating preparedness for prolonged ventilation in preterm infants. Home ventilators represent a strategy to prevent extended hospitalization, and based on our cases, home HFNC for BPD appears safe and effective, making it potentially useful for managing preterm infants requiring prolonged respiratory support in the future.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11090667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916039","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}

引用次数: 0

Orofacial Granulomatosis among Pediatric Patients Well Controlled by Corticosteroid Treatment: A Rare Case Series. 经皮质类固醇治疗后病情得到良好控制的儿童口腔肉芽肿病：罕见病例系列。

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Case Reports in Pediatrics Pub Date : 2024-04-29 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5685686

Taku Kimura, Ken-Ichiro Sakata, Shunichiro Takezaki, Takuya Asaka, Shohei Oshima, Aya Yanagawa-Matsuda, Yoshimasa Kitagawa

{"title":"Orofacial Granulomatosis among Pediatric Patients Well Controlled by Corticosteroid Treatment: A Rare Case Series.","authors":"Taku Kimura, Ken-Ichiro Sakata, Shunichiro Takezaki, Takuya Asaka, Shohei Oshima, Aya Yanagawa-Matsuda, Yoshimasa Kitagawa","doi":"10.1155/2024/5685686","DOIUrl":"10.1155/2024/5685686","url":null,"abstract":"Orofacial granulomatosis (OFG) is a rare disease entity characterized by nonnecrotizing granulomatous inflammation in the oral and maxillofacial regions, typically characterized by recurrent or persistent edema, primarily in the lips and occasionally in the gingiva. OFG is often associated with Crohn's disease and sarcoidosis, and an accurate diagnosis requires systemic examination of patients. Pediatric patients possess unique oral conditions where dental plaque rapidly forms, especially during tooth replacement due to tooth crowding. Moreover, controlling oral hygiene can be challenging, rendering it difficult to distinguish plaque-induced gingivitis from nonplaque-induced gingivitis. We elucidate the reports of pediatric patients who developed OFG in the lips and/or gingiva alone, which was well controlled through corticosteroid treatment. The patients demonstrated recurrent lips and/or gingival swelling with redness, which failed to improve despite oral health care and treatment with antibiotics and/or corticosteroid ointment. Incision biopsy was performed, which demonstrated granulomatous inflammation. Further systemic examination ruled out Crohn's disease and sarcoidosis and confirmed OFG diagnosis. Corticosteroid treatment orally or through gargling was administered to the patients, which provided improvement of symptoms after 1 month. As OFG may be associated with intractable diseases, monitoring the patient regularly is crucial. Pediatric patients with OFG require a collaborative approach with pediatricians and pediatric dentists to manage their oral and overall health.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140851596","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}

引用次数: 0

Challenges in Diagnosing Dermoid Cyst in a Neurocognitive Patient 诊断神经认知症患者皮样囊肿的挑战

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Case Reports in Pediatrics Pub Date : 2024-04-18 DOI: 10.1155/2024/5515676

Alaa Safia, Rabie Shehadeh, Shlomo Merchavy

{"title":"Challenges in Diagnosing Dermoid Cyst in a Neurocognitive Patient","authors":"Alaa Safia, Rabie Shehadeh, Shlomo Merchavy","doi":"10.1155/2024/5515676","DOIUrl":"https://doi.org/10.1155/2024/5515676","url":null,"abstract":"This case report presents a unique and challenging scenario involving the diagnosis and management of a sublingual dermoid cyst in a 12-year-old male with autism disorder. Dermoid cysts within the oral cavity are exceptionally rare entities, constituting less than 0.01% of all oral cavity cysts. In addition, their co-occurrence with neurocognitive disorders further complicates the diagnostic process. The patient's clinical presentation was marked by recurrent epistaxis and behavioral changes, which were compounded by his communication limitations due to autism disorder. A thorough physical examination revealed a sublingual mass causing tongue displacement. However, due to the patient's inability to effectively communicate symptoms, parental input played a pivotal role in constructing the clinical narrative. Imaging techniques, including computed tomography (CT) and magnetic resonance imaging (MRI), provided essential insights into the cyst's size, location, and structural characteristics. The successful integration of these modalities aided in achieving a definitive diagnosis. The subsequent intraoral surgical excision of the 6.5 cm cyst yielded a positive outcome, with an uneventful recovery and a six-month follow-up demonstrating no signs of recurrence. This report underscores the significance of multidisciplinary collaboration in navigating the complexities of diagnosing and managing rare oral lesions in patients with neurocognitive disorders. The confluence of two rare conditions necessitates a tailored approach that takes into account communication barriers and the patient's overall well-being. This case offers valuable insights to healthcare practitioners, highlighting the importance of leveraging advanced imaging technologies and adapting strategies to address the unique challenges posed by such cases. By presenting this exceptional clinical scenario, this report contributes to the medical community's understanding of nuanced diagnostic processes and patient-centered management techniques.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140689037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Beyond Infantile Hemangiomas: A Glimpse into Overlapping Rare Syndromes Emphasizing the Vigilant Screening for PHACE and LUMBAR Syndromes 超越婴儿血管瘤：对重叠罕见综合征的一瞥，强调对 PHACE 和 LUMBAR 综合征的警惕性筛查

IF 0.9

Case Reports in Pediatrics Pub Date : 2024-04-18 DOI: 10.1155/2024/7501793

Luis R. Berríos, Bianca C. Rodríguez, Mariana B. Sadurní, Karla J. Martinez, Carla M. Santiago, Natasha K. González

{"title":"Beyond Infantile Hemangiomas: A Glimpse into Overlapping Rare Syndromes Emphasizing the Vigilant Screening for PHACE and LUMBAR Syndromes","authors":"Luis R. Berríos, Bianca C. Rodríguez, Mariana B. Sadurní, Karla J. Martinez, Carla M. Santiago, Natasha K. González","doi":"10.1155/2024/7501793","DOIUrl":"https://doi.org/10.1155/2024/7501793","url":null,"abstract":"Infantile hemangiomas are the most common birthmark in newborns. They are clinically diagnosed and usually self-limited. However, there are several exceptions with aggressive types of hemangiomas that can be associated with extracutaneous anomalies, such as PHACE syndrome (posterior fossa anomalies, upper body hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies) and LUMBAR syndrome (lower body hemangiomas, ulcerations/urogenital anomalies, myelopathies, bony deformities, anorectal malformations/arterial anomalies, and renal anomalies). These two syndromes, described in the literature with distinct features, have rarely been reported in the same patient. We discuss one of the few cases reported with overlapping features of the PHACE and LUMBAR syndromes that initially presented with infantile hemangiomas, as well as other nonspecific skin and systemic findings. Minimal guidance has been described due to the need for more scientific literature. Our aim is to reinforce awareness of these two syndromes and the possibility of an overlap presentation between them. Furthermore, we emphasize the need for an interdisciplinary approach with screening for all known associations to avoid missing essential components of these syndromes that can lead to significant morbidity and lifetime complications.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140689815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prepubertal Female Bartholin's Gland Abscess: A Comprehensive Case Report Study 青春期前女性巴氏腺脓肿：综合病例报告研究

IF 0.9

Case Reports in Pediatrics Pub Date : 2024-04-03 DOI: 10.1155/2024/8812350

Ahmed Salh Alsayed, Tarek Talaat Harb Elkadi, Mohammed Suliman Alshamari, A. Attallah

{"title":"Prepubertal Female Bartholin's Gland Abscess: A Comprehensive Case Report Study","authors":"Ahmed Salh Alsayed, Tarek Talaat Harb Elkadi, Mohammed Suliman Alshamari, A. Attallah","doi":"10.1155/2024/8812350","DOIUrl":"https://doi.org/10.1155/2024/8812350","url":null,"abstract":"Introduction Bartholin's gland abscesses are rare in pediatric patients, with limited documented cases. This case report aims to contribute valuable insights into managing this uncommon condition in children. Methods A thorough examination and diagnostic workup were conducted on a 4-month-old female infant presenting with labial swelling. Clinical assessment strongly suggested the presence of a Bartholin's gland abscess. A culture of purulent discharge revealed the presence of Escherichia coli and Gram-negative Klebsiella pneumoniae. Antibiotic susceptibility testing guided the choice of treatment. Case Presentation. Despite initial treatment with oral antibiotics and sitz baths, there was limited therapeutic response. Close surveillance under the guidance of a pediatric surgeon continued for two months. Subsequently, surgical excision of the Bartholin gland was performed, and the specimen was sent for pathological examination. Results Pathological analysis revealed signs of ulceration and granulation tissue, indicative of a mixed inflammatory response. An eight-month follow-up demonstrated marked improvement and overall well-being in the patient. Conclusion This case report underscores the importance of considering Bartholin's gland abscess in diagnosing labial swelling in pediatric patients. The successful outcome achieved through surgical excision and appropriate antibiotic therapy provides valuable insights for potential treatment approaches in similar cases. Continued research and comprehensive studies are essential for establishing optimal treatment protocols for this patient demographic.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140749204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0