AME Case Reports最新文献

{"title":"Classical Hodgkin lymphoma as a second malignancy in a patient with cervical squamous cell carcinoma following chemoradiotherapy: a case report.","authors":"Zhemei Xin, Chengshi Wang","doi":"10.21037/acr-2026-0174","DOIUrl":"https://doi.org/10.21037/acr-2026-0174","url":null,"abstract":"<p><strong>Background: </strong>Concurrent chemoradiotherapy is the established standard treatment for locally advanced cervical cancer. However, it may increase the risk of second primary malignancies in long-term survivors. In our study, we present a case of classical Hodgkin lymphoma (cHL) arising as a secondary neoplasm in a patient with cervical squamous cell carcinoma who was treated with definitive chemoradiotherapy. By presenting this case, we try to find the relation between chemoradiotherpy and cHL and we emphasize the key element to diagnose cHL.</p><p><strong>Case description: </strong>The patient was a 65-year-old woman diagnosed with stage ⅢB cervical squamous cell carcinoma in 2020. She received three cycles of cisplatin-based chemotherapy combined with image-guided radiation therapy (IGRT). In August 2025, she presented with persistent fever, productive cough and systemic lymphadenopathy. Initial investigations confirmed severe acute respiratory syndrome corona-virus 2 (SARS-CoV-2) infection and extensive lymph node enlargement on cross-sectional imaging. Despite clinical resolution of the SARS-CoV-2 infection and empirical antibiotic therapy, she continued to experience recurrent high-grade fever. Excisional biopsy of an intact enlarged right axillary lymph node was performed and pathological examination confirmed cHL. After positron emission tomography/computed tomography (PET/CT) examination, she was diagnosed as stage IVB cHL. After four cycles of tislelizumab combined with the pirarubicin, vinblastine, dacarbazine regimen, the patient achieved complete resolution of symptoms.</p><p><strong>Conclusions: </strong>Radiotherapy, cisplatin-based chemotherapy, Epstein-Barr virus (EBV) activation, age-related immunosenescence, poorly controlled long-term diabetes mellitus (DM) and SARS-CoV-2 infection-related immunosuppression may have collectively contributed to lymphomagenesis. This case highlights the critical need for sustained long-term follow-up in cervical cancer patients, especially those burdened with concurrent chronic diseases. In the setting of unexplained fever or lymphadenopathy, clinicians must differentiate secondary malignancies from primary tumor recurrence. During the pathological diagnostic process, examination of an intact lymph node is essential for diagnosis.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"184"},"PeriodicalIF":0.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184851","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":"Excision of a giant cervical-thoracic aggressive fibromatosis: a case report and review of literature.","authors":"Yongshun Li, Moussa Bazongo, Zhicheng Hu, Yue Yang, Lacina Woni, Alain Sanou, Adama Sawadogo","doi":"10.21037/acr-2026-0075","DOIUrl":"https://doi.org/10.21037/acr-2026-0075","url":null,"abstract":"<p><strong>Background: </strong>Aggressive fibromatosis is a rare, locally invasive tumor with a marked tendency to recur, and it is often diagnosed only after the lesion has already reached a considerable size. Although histologically benign, these tumors can behave aggressively at the local level.</p><p><strong>Case description: </strong>We report the case of a male patient with a large mass occupying the entire left hemithorax and extending into the left side of the neck. The tumor compressed the surrounding organs and produced corresponding symptoms. It encircled the left subclavian artery and vein. The patient underwent a complete surgical excision of the mass and is currently under regular follow-up. Because these tumors are large and tend to compress adjacent organs and infiltrate neighboring blood vessels, complete excision can be technically demanding. Histopathological examination confirmed aggressive fibromatosis. Postoperative chest X-ray showed good re-expansion of the left lung. The patient developed lymphoedema which resolved after two weeks of compression bandaging. He recovered well and was discharged. He declined postoperative radiotherapy and was followed up by telephone for 11 months without evidence of disease recurrence or significant discomfort. However, no further radiological follow-up was performed due to financial constraints.</p><p><strong>Conclusions: </strong>Surgery remains the mainstay of treatment, with adjunctive radiotherapy used to reduce the risk of local recurrence.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"198"},"PeriodicalIF":0.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184367","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":"Thoracolumbar pain associated with cervical radiculopathy successfully managed with combined cervical periradicular injection and ultrasound-guided percutaneous electrical nerve stimulation therapy: a case report.","authors":"Luigi Di Lorenzo, Alfonso Maria Forte, Francesco Forte, Andrea Esposito, Bruno De Meo, Alfieri Vellucci, David Iapaolo, Hassan Zmerly","doi":"10.21037/acr-2026-0173","DOIUrl":"https://doi.org/10.21037/acr-2026-0173","url":null,"abstract":"<p><strong>Background: </strong>Cervical radiculopathy may occasionally present with atypical pain patterns extending beyond the classical cervical and upper-limb distribution, potentially leading to diagnostic uncertainty. The thoracodorsal nerve originates predominantly from the C6-C8 roots and innervates the latissimus dorsi muscle, providing a possible anatomical basis for referred pain involving the posterior thoracolumbar region. This case describes an unusual presentation of cervical radiculopathy manifesting predominantly as severe thoracolumbar pain and its management using a combined interventional approach.</p><p><strong>Case description: </strong>A 74-year-old woman presented with a 3-month history of severe right thoracolumbar pain, localized hyperalgesia, and painful myofascial tenderness involving the latissimus dorsi region. Baseline pain intensity was 8/10 on the numerical rating scale (NRS), with associated limitation of trunk mobility and sleep interruption. Previous pharmacological and rehabilitative treatments had failed to provide clinically significant improvement. Cervical magnetic resonance imaging (MRI) demonstrated multilevel degenerative disc disease with right-sided foraminal stenosis involving the C6-C7 and C7-T1 levels. Ultrasound-guided periradicular steroid injections at the right C6, C7, and C8 levels produced significant pain reduction within 48 hours. Subsequently, two sessions of ultrasound-guided percutaneous electrical nerve stimulation (PENS) targeting the presumed thoracodorsal nerve pathway were performed over a 2-month period. At follow-up, pain intensity decreased to NRS 2/10, with improvement in trunk mobility and daily activities. No complications or adverse events were observed.</p><p><strong>Conclusions: </strong>This case highlights the importance of considering a possible cervical origin in selected patients presenting with otherwise unexplained thoracolumbar pain. The favorable clinical course observed after cervical periradicular injections followed by ultrasound-guided PENS suggests that this combined approach may represent a minimally invasive therapeutic strategy in selected patients with refractory cervicogenic thoracolumbar pain. Further studies are required to clarify the underlying mechanisms and determine the specific contribution of PENS to the observed clinical improvement.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"193"},"PeriodicalIF":0.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184623","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":"Jujube pit ingestion leading to ileal perforation and secondary acute appendicitis in a child: a case report.","authors":"Jianping Xie, Suxiong Lu, Jian Sun, Youcheng Zhang, Chunhui Gu, Xinyi Wang","doi":"10.21037/acr-2026-0165","DOIUrl":"https://doi.org/10.21037/acr-2026-0165","url":null,"abstract":"<p><strong>Background: </strong>Acute appendicitis is a common pediatric surgical emergency. While most cases are primary, secondary appendicitis resulting from intra-abdominal pathologies like intestinal perforation is rare and diagnostically challenging. Sharp foreign body ingestion, such as jujube pits, can lead to intestinal perforation, peritonitis, and subsequent inflammation of adjacent organs, including the appendix.</p><p><strong>Case description: </strong>We present the case of an 8-year-old boy who presented with a one-day history of migratory right lower quadrant abdominal pain, nausea, and high fever (39.2 ℃). Laboratory tests revealed markedly elevated inflammatory markers [white blood cell (WBC) 18.2 ×10⁹/L, high-sensitivity C-reactive protein (hs-CRP) 55.9 mg/L]. Abdominal computed tomography (CT) suggested a high-density shadow with intestinal perforation. An emergency laparoscopic exploration was performed, which revealed a large amount of purulent fluid, severe omental adhesion, and a perforation in the ileum approximately 10 cm proximal to the ileocecal (IC) valve caused by an impacted jujube pit. The appendix was congested and covered with purulent exudate. The patient underwent laparoscopic removal of the foreign body, wedge resection and anastomosis of the perforated ileum, and appendectomy. The postoperative course was uneventful, and the patient was discharged on postoperative day (POD) 12. Pathological examination confirmed acute suppurative appendicitis.</p><p><strong>Conclusions: </strong>This case highlights that secondary appendicitis due to a perforated foreign body, though rare, should be considered in children presenting with acute abdomen and significantly elevated infection indicators, especially when the history of ingestion is unclear. Laparoscopic exploration serves as a valuable diagnostic and therapeutic tool for managing such complex cases. Timely surgical intervention to address the primary cause (foreign body and perforation) along with the secondary inflammation, followed by standardized postoperative care, is crucial for a successful outcome. This report also underscores the importance of parental education regarding the prevention of foreign body ingestion in children.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"197"},"PeriodicalIF":0.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184796","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":"Giant fibroepithelial polyp of the ureter presenting as acute obstructive pyelonephritis: a case report.","authors":"My Xuan Nguyen, Nhat Minh Nguyen, Dinh Dam Le, Minh Nhat Vo, Khanh Dinh Le","doi":"10.21037/acr-2026-0180","DOIUrl":"https://doi.org/10.21037/acr-2026-0180","url":null,"abstract":"<p><strong>Background: </strong>Ureteral fibroepithelial polyps are rare benign mesodermal tumors of the upper urinary tract that may mimic upper tract urothelial carcinoma. Their presentation with acute obstructive pyelonephritis is uncommon, and the optimal emergency-to-definitive treatment sequence is not well documented. This report describes a giant ureteral fibroepithelial polyp managed by urgent decompression followed by kidney-sparing ureteroscopic laser polypectomy.</p><p><strong>Case description: </strong>A 28-year-old woman with no relevant medical or surgical history presented with left flank pain, hematuria, fever, chills, and renal colic. Computed tomography (CT) and clinical assessment supported a diagnosis of acute obstructive pyelonephritis secondary to a left ureteral polyp. Emergency percutaneous nephrostomy was performed, and antibiotic therapy was administered according to the antibiogram. After infection control, cystoscopy demonstrated a long, smooth, pink mass with necrotic areas protruding from the left ureteral orifice into the bladder. The initial specimen showed benign epithelial tissue with necrotizing inflammatory tissue. The patient subsequently underwent retrograde ureteroscopy and holmium laser polypectomy. The stalk was attached to the left ureter approximately 12 cm from the ureteral orifice, and the polyp occupied almost the entire ureteral lumen. Complete resection of the lesion, including its base, was achieved, and a double-J ureteral stent was placed. Final histopathology confirmed a benign ureteral fibroepithelial polyp composed of fibrovascular connective tissue covered by normal urothelium. The stent was removed after one month. At 3 months of follow-up, the patient had no complications and no evidence of recurrence.</p><p><strong>Conclusions: </strong>Giant ureteral fibroepithelial polyps may mimic malignancy and may rarely present with acute obstructive pyelonephritis. Urgent decompression is required when infection and obstruction coexist. Retrograde ureteroscopy with laser polypectomy is a feasible minimally invasive diagnostic and therapeutic approach for selected benign ureteral fibroepithelial polyps.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"186"},"PeriodicalIF":0.6,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184627","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":"Metastatic HER2-positive breast cancer in a 19-year-old woman following a 4-year diagnostic delay: a case report.","authors":"Madeleine Ling, Nicholas Tsavaris, Amy Jenkins, Dhruv Bhagat, Kathleen Jeffery","doi":"10.21037/acr-2026-0111","DOIUrl":"https://doi.org/10.21037/acr-2026-0111","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer in adolescents and young adults (AYA) under age 30 is exceedingly rare, representing a very small proportion of all breast cancer cases. When it occurs, it demonstrates more aggressive biological behavior with higher rates of advanced-stage disease and poorer outcomes compared to older populations. Although breast cancer remains uncommon in this age group, population-based data demonstrate that the overall incidence of carcinomas among adolescents and AYA has increased steadily in the United States since 1975, with the greatest relative increase observed among adolescents aged 15-19 years, highlighting the importance of maintaining clinical suspicion for malignancy even in the youngest patients.</p><p><strong>Case description: </strong>A 19-year-old woman presented with a significantly enlarged left breast mass that she had first noticed at age 15 years. Initial clinical evaluation presumed a breast abscess; attempted drainage and antibiotics failed to resolve the lesion. Core needle biopsy revealed estrogen receptor (ER)-positive (70%), progesterone receptor (PR)-positive (50%), human epidermal growth factor receptor 2 (HER2)-positive infiltrating ductal carcinoma with a Ki-67 of 51%. Positron emission tomography/computed tomography (PET/CT) confirmed stage IV disease with osseous metastasis to the manubrium. She received neoadjuvant docetaxel, carboplatin, and trastuzumab with radiation therapy, achieving near-pathologic complete response. At age 21 years, she developed recurrent left breast disease and five brain metastases requiring craniotomy, CyberKnife radiosurgery, and bilateral mastectomy. Despite multiple lines of HER2-targeted therapy including ado-trastuzumab emtansine and fam-trastuzumab deruxtecan-nxki in conjunction with tamoxifen, she continues to experience ongoing disease complications at age 25 years. Germline genetic testing identified only a BRCA1 variant of uncertain significance; no pathogenic mutations were found.</p><p><strong>Conclusions: </strong>This case underscores the critical importance of early clinical suspicion and prompt tissue biopsy for persistent breast masses in young patients, regardless of age or presumed benign etiology. Negative genetic testing should not reduce clinical concern. Breast health education targeting AYA patients and their providers represents a modifiable opportunity to reduce diagnostic delay and improve outcomes.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"187"},"PeriodicalIF":0.6,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184755","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":"Pulsed field ablation for persistent atrial fibrillation with atrioventricular reentrant tachycardia under tubeless general anesthesia: a case report.","authors":"Weida Qiu, Xintong Wang, Shenrong Liu, Jianxing He, Ailan Chen","doi":"10.21037/acr-2026-0122","DOIUrl":"https://doi.org/10.21037/acr-2026-0122","url":null,"abstract":"<p><strong>Background: </strong>Radiofrequency ablation (RFA) combined with left atrial appendage closure (LAAC) has long been used in the treatment of atrial fibrillation (AF). Pulsed field ablation (PFA) is now increasingly adopted due to its great precision and improved safety profile. This report presents a rare case of PFA performed for persistent AF and atrioventricular reentrant tachycardia (AVRT), along with LAAC, under non-intubated general anesthesia.</p><p><strong>Case description: </strong>A 36-year-old male patient presented with a 10-year history of recurrent chest tightness and palpitations, which had worsened during the week prior to admission. He was diagnosed with dilated cardiomyopathy and AF 4 months ago and had a previous cerebral infarction, with a CHA₂DS₂-VASc score of 3 and a HAS-BLED score of 1. A one-stop procedure combining PFA and LAAC was planned. During ablation at the roof of the right superior pulmonary vein, AF converted to sinus rhythm and subsequently developed spontaneous tachycardia, suspected to be AVRT due to a left-sided accessory pathway near CS1-2. Therefore, ablation of the accessory pathway and mitral isthmus was performed, and atrioventricular separation and mitral isthmus block were confirmed. A total of 78 discharges were delivered throughout the procedure, and repeated high-frequency atrial stimulation did not induce atrial flutter or AF. LAAC was then completed as planned. Electrocardiogram (ECG) showed sinus rhythm, and echocardiography demonstrated improved cardiac remodeling at 3-month follow-up.</p><p><strong>Conclusions: </strong>AVRT is a type of supraventricular tachycardia caused by the presence of an accessory pathway due to congenital structural abnormalities. Our case reports an AVRT occurrence during PFA for AF and provides significant evidence that PFA is effective and safe for accessory pathway ablation during AF ablation.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"189"},"PeriodicalIF":0.6,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184296","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":"Late-onset ankylosing spondylitis presenting with severe flank and abdominal-to-back pain in a 64-year-old man: a case report.","authors":"Naoki Kondo","doi":"10.21037/acr-2026-0097","DOIUrl":"https://doi.org/10.21037/acr-2026-0097","url":null,"abstract":"<p><strong>Background: </strong>Ankylosing spondylitis (AS) is a chronic inflammatory disease that primarily affects the spine and sacroiliac joints and is typically diagnosed in younger adults. However, AS may be overlooked in older patients when symptoms are atypically localized, such as flank or abdominal-to-back pain, rather than classic inflammatory low back pain.</p><p><strong>Case description: </strong>We report the case of a 64-year-old man who presented with persistent left-sided abdominal-to-back pain accompanied by markedly elevated inflammatory markers. Initial evaluation focused on abdominal, urinary, infectious, malignant, and degenerative spinal disorders. However, imaging revealed bilateral grade 3 sacroiliitis according to the modified New York criteria, marked narrowing and partial anterior fusion of both sacroiliac joints on pelvic computed tomography (CT), and lumbar vertebral corner ossification. Human leukocyte antigen (HLA)-B27 was negative. Based on the overall clinical and radiographic findings, late-onset AS was diagnosed. After diagnosis, adalimumab (ADA) was initiated and rapidly improved disease activity. Because its efficacy later waned, treatment was switched to infliximab (IFX), which restored disease control. Although disease activity worsened after switching to an IFX biosimilar, reintroduction of originator IFX restored clinical remission, which was maintained for 2.5 years without serious adverse events.</p><p><strong>Conclusions: </strong>This case highlights that late-onset AS may present with atypical flank and abdominal-to-back pain rather than classic inflammatory low back pain. In older patients with unexplained persistent flank or abdominal-to-back pain and markedly elevated inflammatory markers, AS should be considered in the differential diagnosis after excluding abdominal, urinary, infectious, malignant, and degenerative spinal disorders. Careful differentiation from diffuse idiopathic skeletal hyperostosis (DISH) is particularly important when extensive spinal ossification is present.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"185"},"PeriodicalIF":0.6,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184718","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":"CHARGE syndrome with hypothyroidism: a case report.","authors":"Dan Xu, Huiling Lin, Yuexian He, Chengxu Song, Wenxiu Song","doi":"10.21037/acr-2026-0164","DOIUrl":"https://doi.org/10.21037/acr-2026-0164","url":null,"abstract":"<p><strong>Background: </strong>CHARGE syndrome (CS) is a rare genetic disorder caused by mutations in the chromodomain helicase DNA binding protein 7 (<i>CHD7</i>)gene. CS is characterized by a spectrum of disorders, including coloboma, heart malformations, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities and/or deafness. Additionally, some patients with CS may have some type of endocrine disorder, which affects their development.</p><p><strong>Case description: </strong>We report the case of a 6-month-old female infant diagnosed with CS and congenital hypothyroidism (CH) who presented with various features, including a crooked smile, anemia, auricular deformity and auditory abnormalities of the right ear, atrial septal defect and patent ductus arteriosus, and severe growth retardation. Whole-exome sequencing (WES) and mitochondrial genome sequencing showed a heterozygous mutation of the <i>CHD7</i> gene [c.2377-1G>A (NM_017780.4)] and a heterozygousdual oxidase maturation factor 2 (<i>DUOXA2</i>) gene mutation [c.413dup(p.Tyr138Ter)]. The patient was provided oral supplementation of levothyroxine, rehabilitation training, and feeding with a high-energy density formula and complementary foods. Furosemide, hydrochlorothiazide, and digoxin tablets were also administered for pulmonary hypertension. When the patient was 14 months old, she showed improved growth, and language development was better than before, but these continued to be delayed compared to healthy peers.</p><p><strong>Conclusions: </strong>This case highlights the importance of an early genetic diagnosis and intervention not only for CS but also for other endocrine disorders. Additionally, as a multi-system disease, CS requires the efforts of doctors from multiple disciplines for its successful treatment.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"188"},"PeriodicalIF":0.6,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184859","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":"Anesthetic management of bronchopleural fistula repair with severe pneumonia in a 74-year-old man using one-lung ventilation combined with high-flow veno-venous extracorporeal membrane oxygenation without continuous systemic heparinization: a case report.","authors":"Emi Imai, Toshihiro Kikuchi, Eizoh Gondoh, Masataka Fukuda, Izumi Kawagoe","doi":"10.21037/acr-2026-0117","DOIUrl":"https://doi.org/10.21037/acr-2026-0117","url":null,"abstract":"<p><strong>Background: </strong>Bronchopleural fistula (BPF) is a serious complication following lung resection, often leading to respiratory failure. In one study of 6,239 patients, 43 (0.65%) developed early BPF, and cases complicated by contralateral pneumonia have rarely been reported.</p><p><strong>Case description: </strong>We present the case of a 74-year-old man with chronic obstructive pulmonary disease (COPD), atrial fibrillation, hypertension, and pneumonia who developed BPF after thoracoscopic left upper lobectomy. The patient was scheduled to undergo BPF repair, in which includes an intercostal muscle flap was sutured in place. Due to extensive pneumonia and poor contralateral lung function, one-lung ventilation (OLV) along with high-flow veno-venous extracorporeal membrane oxygenation (V-V ECMO) was used intraoperatively to maintain oxygenation. ECMO was managed without continuous systemic heparinization to reduce the risk of bleeding and to allow for postoperative epidural anesthesia (EA). The patient was extubated postoperatively under spontaneous breathing with adequate analgesia, avoiding tachypnea due to pain. Although the patient's initial postoperative course was uneventful, he experienced sudden massive hemoptysis on postoperative day 6 and died.</p><p><strong>Conclusions: </strong>Although this approach may be technically feasible in carefully selected cases, it should be considered a high-risk strategy for perioperative management during BPF repair in patients with severe lung injury. Given the limited evidence currently available, further data are needed to establish its safety and efficacy.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"190"},"PeriodicalIF":0.6,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184784","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}