AME Case Reports最新文献

{"title":"Management of a bent tibial intramedullary nail following refracture: a case report and literature review.","authors":"Guoxin Yan, Zeliang Zou, Mingyun Fu","doi":"10.21037/acr-2025-282","DOIUrl":"https://doi.org/10.21037/acr-2025-282","url":null,"abstract":"<p><strong>Background: </strong>Tibial refracture combined with intramedullary nail (IMN) plastic deformation after initial internal fixation is a rare clinical complication. Its management involves removal of the bent IMN and reduction/fixation of the refracture. Currently, there is no unified standardized treatment protocol, and the technical operation is challenging. Further accumulation of case evidence is needed to optimize diagnostic and therapeutic strategies.</p><p><strong>Case description: </strong>A 28-year-old male patient underwent tibial IMN internal fixation for a midshaft tibial fracture 2 years prior. On July 6, 2025, he was admitted to the hospital due to right leg swelling, pain, and limited mobility for 5 hours following a collision between his bicycle and a car. The diagnosis was right midshaft tibial refracture after internal fixation and right distal fibular fracture. Imaging examinations revealed plastic deformation of the tibial IMN, with 13° lateral curvature in the coronal plane and 19° anterior angulation in the sagittal plane. The treatment plan included: first, open reduction and plate internal fixation of the right fibular fracture to maintain limb length; second, direct removal of the bent IMN using an impactor; third, intramedullary canal reaming; and finally, closed reduction and internal fixation of the right tibial fracture with a lengthened IMN. X-ray re-examination 1 month postoperatively showed callus formation. The patient resumed normal weight-bearing ambulation 2 months postoperatively with good functional recovery.</p><p><strong>Conclusions: </strong>This case validates the rationality of the 20° critical angle for closed removal of bent IMNs proposed by Kose <i>et al.</i> In the treatment of tibial refracture with IMN plastic deformation, prioritizing fibular fixation to maintain limb length is a key surgical principle. For bent IMNs with angulation <20°, direct removal and replacement with a new IMN is a safe and effective treatment strategy.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"62"},"PeriodicalIF":0.7,"publicationDate":"2026-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677079","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 for thoracoscopic bilateral bullectomy in a patient with stage III pneumoconiosis, bilateral giant bullous emphysema, stage IV chronic obstructive pulmonary disease and profoundly impaired pulmonary function: a rare case report.","authors":"Mingyuan Yang, Yuxue Yao, Qinghao Cheng","doi":"10.21037/acr-2025-284","DOIUrl":"https://doi.org/10.21037/acr-2025-284","url":null,"abstract":"<p><strong>Background: </strong>Pneumoconiosis is a chronic occupational lung disease characterized by progressive diffuse pulmonary fibrosis and irreversible impairment of pulmonary function. The coexistence of bilateral giant bullous emphysema (GBE), end-stage chronic obstructive pulmonary disease (COPD), chronic hypercapnia, and cor pulmonale in pneumoconiosis patients is exceedingly rare and poses extraordinary anesthetic challenges.</p><p><strong>Case description: </strong>We report the anesthetic management of a 67-year-old man with stage III pneumoconiosis complicated by bilateral GBE, stage IV COPD, chronic hypercapnia, and cor pulmonale. Preoperative pulmonary function testing revealed profoundly impaired lung function, with a predicted forced expiratory volume in one second (FEV₁) was 19.22%. The patient underwent staged video-assisted thoracoscopic bullectomy. Anesthetic management included individualized one-lung ventilation (OLV) using pressure-controlled ventilation-volume guaranteed (PCV-VG) mode, acceptance of permissive hypercapnia, and a stepwise contingency strategy involving continuous positive airway pressure (CPAP) and pulmonary vein clamping for refractory hypoxemia. Both procedures were completed successfully without the need for extracorporeal membrane oxygenation (ECMO). Postoperatively, the patient demonstrated significant symptomatic improvement, and FEV₁% increased to 28.62% at follow-up.</p><p><strong>Conclusions: </strong>This case demonstrates that a meticulously tailored anesthetic strategy, incorporating staged surgery, advanced OLV strategies with CPAP and pulmonary vein clamping, can enable the safe performance of bullectomy and yield meaningful functional improvement in this patient with pneumoconiosis and profoundly compromised pulmonary function.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"73"},"PeriodicalIF":0.7,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677224","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":"Perioperative mortality in patients with acute aortic dissection and coronary artery problems: report of 3 cases and literature review.","authors":"Shuxian Ma, Jianjun Ren","doi":"10.21037/acr-2025-205","DOIUrl":"https://doi.org/10.21037/acr-2025-205","url":null,"abstract":"<p><strong>Background: </strong>Acute type A aortic dissection is a critical condition associated with elevated mortality and disability rates, influenced by numerous risk factors. One significant contributor to intraoperative mortality is intraoperative myocardial ischemia or infarction, which can result in cardiac dysfunction following cardiac reperfusion.</p><p><strong>Case description: </strong>Case 1 was a 46-year-old male who was admitted for 22-hour sudden chest distress and pain. Intraoperatively, myocardial swelling and cyanosis were observed in the proximal-middle right coronary artery (RCA). Dissection extended to the right and non-coronary sinuses and the aortic annulus, resulting in complete avulsion of the RCA ostium. Aortic total arch replacement and RCA bypass grafting were performed. Following cardiac reperfusion, the patient developed bradycardia and hypotension, ultimately succumbing despite resuscitative efforts, with an estimated blood loss of approximately 2,000 mL. Case 2 was a 55-year-old male who presented with 3-hour sudden chest pain. Intraoperative exploration revealed aortic true and false lumens, along with a longitudinal intimal tear at the anterior wall of the sinotubular junction. There was also distal displacement of the bilateral coronary ostia, and a bicuspid aortic valve exhibiting thickening, calcification, and severe stenosis. Postoperatively, the patient was transferred to the Intensive Care Unit (ICU) but developed hypotension and poor circulation, leading to death after unsuccessful reperfusion. Case 3 was a 25-year-old female who was admitted for a 2-day sudden chest distress radiating to the shoulders. No RCA ostium was identified during the operation. Aortic declamping triggered ventricular fibrillation; sinus rhythm was restored after multiple defibrillations, but unstable circulation and hypotension followed. She died despite resuscitative attempts, with an estimated blood loss of approximately 2,000 mL.</p><p><strong>Conclusions: </strong>This article reports 3 cases of cardiac dysfunction following cardiac reperfusion due to coronary artery issues, aiming to provide insights and caution for the intraoperative management of similar patients.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"66"},"PeriodicalIF":0.7,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677113","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":"Postmenopausal mixed gestational trophoblastic neoplasia: a case report and review of the literature.","authors":"Chenqing Yang, Jiayi Zhang, Yang Zhang, Xiaohuan Liu, Ruifang An","doi":"10.21037/acr-2025-290","DOIUrl":"https://doi.org/10.21037/acr-2025-290","url":null,"abstract":"<p><strong>Background: </strong>Mixed gestational trophoblastic neoplasia (GTN) is an exceptionally rare form of GTN, characterized by the coexistence of choriocarcinoma (CC) and/or placental site trophoblastic tumor (PSTT) and/or epithelioid trophoblastic tumor (ETT). GTN rarely presents in women beyond the reproductive age.</p><p><strong>Case description: </strong>We present a case of a 65-year-old woman diagnosed with mixed GTN (CC + ETT + PSTT). Initially, she was diagnosed with an undefined subtype of GTN, with the possibility of concurrent ovarian and/or endometrial cancer. The patient underwent multi-agent chemotherapy initially and responded well, but she developed severe toxic reaction to the treatment. After symptomatic supportive treatment, she underwent cytoreductive surgery and was given sequential chemotherapy. She responded well but then developed sepsis and other severe side effects. Consequently, the chemotherapy was suspended, and the disease progressed. On the 36th day of the interval, the family decided to discontinue supportive treatment due to financial difficulties, and the patient passed away three days later. We also reviewed 45 cases of mixed GTN from existing literature to deepen clinician understanding of this condition.</p><p><strong>Conclusions: </strong>Mixed GTN is a rare malignant neoplasm of the trophoblastic tissue, particularly in postmenopausal women. The risk of misdiagnosis is high, and definitive treatment protocols remain elusive. Future research must further explore the methods to promote differential diagnosis, chemotherapy and surgery regimens, their timing, and novel therapeutic modalities such as adjuvant immunotherapy, in order to enhance treatment outcomes.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"76"},"PeriodicalIF":0.7,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677071","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":"Challenging the known: unusual case report of acromegaly and subclinical Cushing's disease combination.","authors":"Xinlian He, Haiyan Li, Tingting Wu, Meiquan Xu, Mingzheng Li, Jianxin Deng","doi":"10.21037/acr-2025-312","DOIUrl":"https://doi.org/10.21037/acr-2025-312","url":null,"abstract":"<p><strong>Background: </strong>Pituitary neuroendocrine tumors (PitNETs) are usually characterized by hormone secretion profiles that correspond to lineage-specific transcription factor expression. Growth hormone (GH) and prolactin (PRL) secretion is regulated by pituitary-specific transcription factor-1 (Pit-1), whereas adrenocorticotropic hormone (ACTH) production is classically dependent on T-box transcription factor 19 (T-pit). Accordingly, the concomitant secretion of GH and ACTH from a single pituitary adenoma is exceedingly rare.</p><p><strong>Case description: </strong>A 41-year-old man presented with typical acromegalic features and severe metabolic abnormalities, including poorly controlled diabetes mellitus, but without overt clinical manifestations of Cushing's syndrome. Endocrine evaluation demonstrated markedly elevated GH and insulin-like growth factor-1 levels, failure of GH suppression during oral glucose tolerance testing, and biochemical evidence of ACTH-dependent hypercortisolism, consistent with subclinical Cushing's disease. Pituitary magnetic resonance imaging revealed an invasive macroadenoma extending into the sphenoid sinus. The patient underwent transsphenoidal resection of the tumor. Histopathological examination showed diffuse and strong immunoreactivity for GH and PRL, with focal and sparse ACTH positivity. Immunohistochemistry revealed robust Pit-1 expression, while T-pit staining was entirely negative, indicating a mammosomatotroph PitNET with aberrant ACTH expression rather than true corticotroph lineage differentiation. Postoperatively, ACTH and cortisol levels declined substantially, cortisol suppressibility was restored, and hypothalamic-pituitary-adrenal axis function remained intact, confirming remission of hypercortisolism. In contrast, biochemical remission of acromegaly was incomplete, requiring continued follow-up.</p><p><strong>Conclusions: </strong>This case describes a rare Pit-1 lineage pituitary macroadenoma associated with acromegaly and subclinical Cushing's disease. The discordance between ACTH hypersecretion and absent T-pit expression highlights atypical hormone regulation in plurihormonal PitNETs and underscores the limitations of current lineage-based classifications.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"75"},"PeriodicalIF":0.7,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147676586","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":"Orbital complications in allergic fungal rhinosinusitis: a case series from a tertiary center hospital experience.","authors":"Maria R Alabdulaal, Hussain J Aljubran, Moath A Alfaleh, Suad H Eksail, Mona M Ashoor, Mohammad S Alahmari, Ali Almomen","doi":"10.21037/acr-2025-195","DOIUrl":"https://doi.org/10.21037/acr-2025-195","url":null,"abstract":"<p><strong>Background: </strong>Allergic fungal rhinosinusitis (AFRS) is a non-invasive form of sinus inflammation characterized by immunoglobulin E (IgE)-mediated eosinophilic-rich type 1 hypersensitivity reaction. Although it is uncommon, many ophthalmic manifestations such as ophthalmoplegia, proptosis, double vision, and even visual loss can be seen in patients with AFRS due to direct optic nerve compression, immunological reaction to fungi, or other mechanisms.</p><p><strong>Case description: </strong>In this case series, we reviewed four different cases of AFRS patients with orbital complications, reviewing their clinical and radiological features, and describing their management and outcomes. A variety of mechanisms have been described as the leading cause of visual complications in AFRS, such as optic nerve compression or allergic inflammatory reaction causing bony destruction. However, imaging and histopathological analysis play an important role in diagnosis. Despite the presence of orbital complications, endoscopic sinus surgery is still considered the first line of management in these conditions, as these four cases showed resolution of the disease with no recurrence after at least 6 months follow-up.</p><p><strong>Conclusions: </strong>The diagnosis of AFRS can be challenging and results in the presence of complications in those patients. This study described the importance of early recognition, diagnosis, and intervention of this disease to avoid the orbital complications and preserve the vision of patients and prevent any permanent complications. However, further studies are still needed in the future to identify the pattern of these complications in the long term.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"79"},"PeriodicalIF":0.7,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677093","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":"Severe edema as an immune-related adverse event following nivolumab therapy: a case report.","authors":"Naoki Miyamoto, Ayaka Tsuji, Shiori Matsui, Emi Takehara, Taihei Takeuchi, Keisuke Fujimoto, Atsushi Morishita, Naoya Kawakita, Hiroaki Toba, Hiromitsu Takizawa","doi":"10.21037/acr-2025-298","DOIUrl":"https://doi.org/10.21037/acr-2025-298","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitors (ICIs) are widely used to treat various cancers and can cause immune-related adverse events (irAEs). These adverse events may affect multiple organs and occasionally become life-threatening. Fluid retention, including pleural or pericardial effusion, has been reported as a manifestation of irAEs; however, generalized edema is rare and its clinical characteristics remain poorly described. We present a case of a patient who developed generalized edema and weight gain as irAEs, posing diagnostic and therapeutic challenges.</p><p><strong>Case description: </strong>A 78-year-old man developed severe generalized edema and significant weight gain following nivolumab therapy for recurrent lung cancer. Extensive evaluations were performed to determine the cause of the edema. Laboratory findings and imaging studies did not reveal cardiac failure, renal dysfunction, or hepatic disease that could explain the symptoms. The edema was refractory to diuretic therapy. Based on these findings, the condition was diagnosed as ICI-induced edema. Edema and weight gain improved rapidly after corticosteroid administration, suggesting an immune-mediated mechanism related to immune checkpoint inhibition. The corticosteroid was gradually tapered in the outpatient setting, and no recurrence of edema or weight gain occurred during follow-up.</p><p><strong>Conclusions: </strong>ICI-induced edema is a rare irAE that may result from increased capillary permeability secondary to immune-mediated vascular inflammation. Because edema can mimic cardiac, renal, or hepatic disorders, comprehensive evaluation is essential to exclude common causes. ICI-induced edema may progress to more severe irAEs, such as pleural or pericardial effusion. Clinicians should consider immune-related edema in the differential diagnosis when unexplained fluid retention occurs during ICI therapy. Early recognition and prompt initiation of corticosteroid therapy are crucial to prevent life-threatening complications.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"77"},"PeriodicalIF":0.7,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful treatment of carbapenem-resistant <i>Acinetobacter baumannii</i> and Enterobacterales coinfection with sulbactam-durlobactam combined with aztreonam: a case report.","authors":"Siyu Yang, Zhenshun Cheng, Yuan Liu, Lan Ni, Chaojie Wei","doi":"10.21037/acr-2025-287","DOIUrl":"https://doi.org/10.21037/acr-2025-287","url":null,"abstract":"<p><strong>Background: </strong>Carbapenem-resistant Gram-negative bacilli (CRGNB) often cause nosocomial infections difficult to treat. Their widespread dissemination, associated high mortality, and increasing disease burden constitute a significant global public health challenge. This situation is further exacerbated by mixed CRGNB infections, which exhibit elevated mortality rates and increased therapeutic complexity. Thus, it is imperative to establish effective antibiotic strategies with minimal adverse effects to address these polymicrobial infections. We present this case to evaluate the efficacy of sulbactam-durlobactam (SUL-DUR) combined with aztreonam for treating mixed carbapenem-resistant <i>Acinetobacter baumannii</i> (CRAB) and metallo-β-lactamase (MBL)-producing carbapenem-resistant Enterobacterales (CRE) infections, also exploring the potential mechanisms.</p><p><strong>Case description: </strong>An elderly patient with uncontrolled chronic obstructive pulmonary disease (COPD) was admitted presenting with dyspnea, bloody sputum, and somnolence. Etiological workup revealed a pulmonary coinfection with CRAB and MBL-producing CRE. The infection proved refractory to multiple rounds of advanced antibiotic therapy, including meropenem, ceftazidime-avibactam, and a combination of polymyxin B with eravacycline. Guided by antimicrobial susceptibility testing (AST) and clinical guidelines, a regimen of SUL-DUR combined with aztreonam was initiated. This therapeutic strategy led to a successful clinical outcome, with no evidence of disease recurrence during a 2-month follow-up period.</p><p><strong>Conclusions: </strong>This case highlights the significant efficacy of SUL-DUR combined with aztreonam in managing the clinically formidable challenge of mixed CRAB and MBL-producing CRE infections, offering a valuable reference for treating such conditions.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"57"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677148","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":"Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the <i>HSD17B10</i> gene: case report.","authors":"Alyaa Khodawrdi, Chadia Mekki, Ariane Lunati-Rozie, Benoît Funalot","doi":"10.21037/acr-24-280","DOIUrl":"https://doi.org/10.21037/acr-24-280","url":null,"abstract":"<p><strong>Background: </strong>HSD10 mitochondrial disease (HSD10MD) is a rare X-linked disorder caused by pathogenic variants in the <i>HSD17B10</i> gene, encoding the mitochondrial enzyme 17β-hydroxysteroid dehydrogenase type 10 (HSD10). This enzyme is crucial for isoleucine degradation, neuroactive steroid metabolism, and mitochondrial function. HSD10MD typically presents in infancy or early childhood with severe neurodevelopmental regression, seizures, and cardiomyopathy, often leading to early mortality. Adult cases are extremely rare, with milder phenotypes associated with somatic mosaicism.</p><p><strong>Case description: </strong>We describe a 49-year-old French male presenting with hypertrophic cardiomyopathy, intellectual disability, psychomotor delay, stereotypies, and epilepsy. Developmental delay was noted after 18 months, and the first seizure occurred at age 14 years, followed by a prolonged coma. Cardiac evaluation revealed left ventricular hypertrophy, dilation, and left ventricular ejection fraction of 45%. Neurodevelopmental features included behavioral disturbances, echolalia, and inability to acquire literacy. Genetic testing initially identified no abnormalities, but exome sequencing revealed a pathogenic <i>HSD17B10</i> variant (c.388C>T, p. Arg130Cys) with a variant allele frequency of 55%, consistent with somatic mosaicism. This mosaicism may explain the milder phenotype compared to the severe, early-onset presentations typically associated with this mutation.</p><p><strong>Conclusions: </strong>This case underscores the clinical variability of HSD10MD and highlights the diagnostic importance of genetic testing, particularly in adults with atypical or milder phenotypes. The association of hypertrophic cardiomyopathy with HSD10MD, as demonstrated here, suggests that cardiac involvement can dominate the clinical picture in some cases. The role of somatic mosaicism in moderating disease severity warrants further exploration. This report contributes to the limited literature on adult presentations of HSD10MD and expands the phenotype associated with the p. Arg130Cys mutation.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"68"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677185","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":"Contralateral axillary lymph node and chest wall skin recurrence 2 years after radical mastectomy for breast cancer: a case report and literature review.","authors":"Zhi-Yong Liu, Ran Chen","doi":"10.21037/acr-2025-317","DOIUrl":"https://doi.org/10.21037/acr-2025-317","url":null,"abstract":"<p><strong>Background: </strong>Contralateral axillary lymph node metastasis (CAM) following radical mastectomy for breast cancer is a rare and clinically challenging event, with a reported incidence of approximately 1.9% to 6.0%. Its pathogenesis, often attributed to altered lymphatic drainage after primary breast surgery, is not fully elucidated. The classification of CAM remains controversial, as current American Joint Committee on Cancer (AJCC) staging guidelines categorize it as distant metastasis (M1), while emerging clinical evidence suggests its biological behavior and prognosis may align more closely with advanced regional (stage III) disease. This ambiguity complicates management, as standardized treatment guidelines are lacking. Accurate diagnosis is imperative and requires thorough investigation to exclude a new occult primary malignancy or metastases from other tumors.</p><p><strong>Case description: </strong>We report a detailed case of a 39-year-old female who developed synchronous CAM and extensive contralateral chest wall skin involvement, presenting as nodules and ulceration, 2 years after undergoing a right modified radical mastectomy for triple-negative breast cancer. Despite undergoing multiple lines of systemic therapy over several years, the disease progressed locally at these contralateral sites without evidence of other distant metastases. After comprehensive imaging and histopathological evaluation confirmed the metastatic origin from her primary breast cancer, the patient underwent aggressive local surgical resection. This included a left radical mastectomy with nipple-areola complex preservation, wide resection of the chest wall tumor, and immediate reconstruction using a pedicled latissimus dorsi flap. The patient tolerated the procedure well, achieved clear margins, and had a satisfactory postoperative recovery.</p><p><strong>Conclusions: </strong>CAM represents a complex clinical scenario that necessitates meticulous differential diagnosis and multimodal evaluation. The outcome of this case, alongside a review of the literature, suggests that in selected patients without concomitant distant metastases, CAM may behave as a locoregional progression rather than systemic dissemination. Therefore, a blanket classification as stage IV disease may lead to the undertreatment of potentially curable local recurrences. Current evidence supports considering an aggressive local therapeutic approach, including surgery and/or radiotherapy, combined with systemic therapy to enhance local control and improve prognosis. An individualized, comprehensive treatment strategy is strongly recommended to optimize survival outcomes in such rare cases.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"74"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147676703","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}