AME Case ReportsPub Date : 2026-08-13eCollection Date: 2026-01-01DOI: 10.21037/acr-2026-0197
Xiaodan Wang, Xia Peng, Yi Yang, Yuandi Xiang, Yan Qin, Cheng Yuan, Yufei Liu, Chunjiao Zhou
{"title":"Primary small cell neuroendocrine carcinoma of the tonsil combined with squamous cell carcinoma of the hypopharynx: a case report.","authors":"Xiaodan Wang, Xia Peng, Yi Yang, Yuandi Xiang, Yan Qin, Cheng Yuan, Yufei Liu, Chunjiao Zhou","doi":"10.21037/acr-2026-0197","DOIUrl":"https://doi.org/10.21037/acr-2026-0197","url":null,"abstract":"<p><strong>Background: </strong>Primary small cell neuroendocrine carcinoma (SCNEC) of the tonsils is extremely rare and is often misdiagnosed as squamous cell carcinoma. Cases coexisting with hypopharyngeal squamous cell carcinoma (HPSCC) have not been reported. The presence of concurrent aortic arch aneurysm further complicates treatment.</p><p><strong>Case description: </strong>A 71-year-old male presented with pharyngeal pain lasting over one month. Imaging and pathological examinations confirmed right tonsillar SCNEC (with approximately 80% Ki-67 positivity) and left HPSCC, along with concurrent aortic arch aneurysm and stage III chronic kidney disease. Following multidisciplinary consultation, intracavitary aortic repair was performed first, followed by radical tumor resection 2 weeks later (including tonsillectomy, hypopharyngeal tumor resection, and bilateral cervical lymph node dissection). Postoperative pathology showed negative surgical margins and no lymph node metastasis. Perioperative complications included left upper limb intermuscular vein thrombosis and pulmonary infection, both of which resolved after treatment. Adjuvant radiotherapy and chemotherapy were recommended but declined by the patient and family. No recurrence was observed on laryngoscopy at 6 months postoperatively.</p><p><strong>Conclusions: </strong>Primary SCNEC of the tonsils combined by HPSCC is extremely rare. A complete diagnostic evidence chain (independent imaging findings, distinct immunophenotypes, and exclusion of pulmonary primary origin) is essential. For high-risk patients with arterial aneurysms, a multidisciplinary \"addressing vascular issues first, then performing tumor resection\" sequential approach can reduce perioperative risks.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"202"},"PeriodicalIF":0.6,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184907","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":"Thyroid storm revealing suspected evolving autoimmune polyglandular syndrome type 2 with steroid-limited assessment of autoimmune adrenal insufficiency: a case report.","authors":"Ruben Salgueiro, Fábio Rêgo Salgueiro, Gonçalo Lopes, Patricia Tenreiro, Nadejda Potlog, Sónia Canadas","doi":"10.21037/acr-2026-0181","DOIUrl":"https://doi.org/10.21037/acr-2026-0181","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune polyglandular syndrome type 2 (APS-2) is a rare autoimmune disorder characterized by the coexistence of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. Its heterogeneous and progressive presentation frequently delays diagnosis, particularly during acute endocrine emergencies where one dominant manifestation may obscure concurrent glandular dysfunction. Recognition of evolving autoimmune disease before overt adrenal insufficiency develops remains particularly challenging, especially when emergency corticosteroid therapy is initiated before endocrine evaluation.</p><p><strong>Case description: </strong>We report the case of a 53-year-old woman admitted with severe thyrotoxicosis presenting with marked weight loss, persistent vomiting, generalized weakness, and sinus tachycardia. Laboratory evaluation demonstrated suppressed thyroid-stimulating hormone and markedly elevated free thyroxine levels, fulfilling the clinical criteria for suspected thyroid storm, prompting immediate treatment with hydrocortisone, propranolol, thiamazole, and intravenous fluids resulted in rapid clinical improvement. Further investigation confirmed Graves' disease with positive anti-thyroid antibodies and diffuse uptake on thyroid scintigraphy. Additional studies revealed hypercalcemia with suppressed parathyroid hormone levels, vitamin B12 deficiency, positive anti-parietal cell antibodies, and autoimmune atrophic gastritis compatible with pernicious anemia. Biochemical confirmation of primary adrenal insufficiency was not possible because glucocorticoid therapy had been initiated before adrenal function testing. Nevertheless, the presence of anti-21-hydroxylase antibodies strongly supported autoimmune adrenalitis and raised suspicion for evolving APS-2. Extended autoimmune testing also demonstrated positivity for anti-gp210 antibodies and anti-triple tissue antibodies, suggesting latent autoimmune hepatobiliary involvement. Although these findings were not diagnostic of hepatobiliary or additional gastrointestinal autoimmune disease, they supported a broader autoimmune phenotype and highlighted the need for long-term multidisciplinary surveillance.</p><p><strong>Conclusions: </strong>This case highlights the diagnostic challenge of recognizing evolving APS-2 during an acute endocrine emergency, when severe thyrotoxicosis predominates and early corticosteroid therapy appropriately prioritized patient stabilization but limited definitive biochemical assessment of adrenal function. Compared with previously reported cases, this report emphasizes the value of identifying autoimmune adrenalitis before overt Addison's disease becomes clinically apparent and illustrates the importance of comprehensive autoimmune evaluation in patients presenting with severe thyrotoxicosis and multiple autoimmune manifestations. Early recognition, comprehensive autoimmune investigation, and multidisciplin","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"204"},"PeriodicalIF":0.6,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184804","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}
AME Case ReportsPub Date : 2026-08-13eCollection Date: 2026-01-01DOI: 10.21037/acr-2026-0175
Changqian Xiao, Youna Yu, Sufen He, Qihong Sun
{"title":"Fatal multiple organ dysfunction syndrome induced by colchicine poisoning in a patient with underlying alcoholic liver disease: a case report.","authors":"Changqian Xiao, Youna Yu, Sufen He, Qihong Sun","doi":"10.21037/acr-2026-0175","DOIUrl":"https://doi.org/10.21037/acr-2026-0175","url":null,"abstract":"<p><strong>Background: </strong>Colchicine is a drug used primarily to treat and prevent gout. Yet its narrow therapeutic index makes the lethal dose highly variable, influenced by patient-specific factors such as hepatic function and concomitant medications. In vulnerable patients, even doses substantially below the traditionally cited lethal threshold can result in fatal outcomes.</p><p><strong>Case description: </strong>We report a case of a 58-year-old male with a history of gout, alcoholic liver disease, and hyperlipidemia who presented with vomiting, diarrhea, and abdominal pain that lasted three days after ingesting 15 mg of colchicine (0.22 mg/kg) for gout pain relief. Upon admission, laboratory findings revealed acute kidney injury, severe metabolic acidosis, leukopenia, and thrombocytopenia. Despite aggressive supportive care in the intensive care unit (ICU), including broad-spectrum antibiotics, fluid resuscitation, steroids and recombinant human thrombopoietin (rhTPO), the patient developed progressive multiple organ dysfunction syndrome (MODS), disseminated intravascular coagulation (DIC), and spontaneous intracranial hemorrhage. On the eighth day of admission, the family opted to discontinue further organ support, and the patient died shortly thereafter.</p><p><strong>Conclusions: </strong>This case shows that in patients with hepatic impairment, severe colchicine toxicity and fatal outcomes may occur even at doses below the traditionally cited threshold. The case also demonstrates that it is critical for physicians to be alert to the serious adverse effects of inadvertent colchicine overdose when prescribing the drug.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"201"},"PeriodicalIF":0.6,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184328","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}
AME Case ReportsPub Date : 2026-08-11eCollection Date: 2026-01-01DOI: 10.21037/acr-2026-0186
Haiqing Deng, Tingting Zheng
{"title":"Hypo-osmotic swelling test guided sperm selection followed by intracytoplasmic sperm injection in two men with multiple morphological abnormalities of the sperm flagella associated with SPEF2 and CFAP251 variants: two case reports.","authors":"Haiqing Deng, Tingting Zheng","doi":"10.21037/acr-2026-0186","DOIUrl":"https://doi.org/10.21037/acr-2026-0186","url":null,"abstract":"<p><strong>Background: </strong>Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare but severe form of asthenozoospermia. It is characterized by multiple abnormalities in sperm flagella, manifesting as various combinations of short, absent, coiled, curved, and/or irregularly diameter flagella. For MMAF patients with no motile sperm in their semen, it is necessary to identify viable immotile sperm for assisted conception via intracytoplasmic sperm injection (ICSI). The hypo-osmotic swelling test (HOST) technique is one method used to identify viable immotile sperm.</p><p><strong>Case description: </strong>Both patients were young men diagnosed with MMAF and had no motile sperm in their semen. Genetic testing revealed a sperm flagellar 2 (<i>SPEF2</i>) gene mutation in patient A and a cilia and flagella associated protein 251 (<i>CFAP251</i>) gene mutation in patient B. Live immotile sperm were successfully identified in both patients using the HOST, and ICSI was performed. They underwent ICSI successfully and achieved pregnancy. Both couples achieved live births following ICSI treatment.</p><p><strong>Conclusions: </strong>For MMAF patients lacking motile sperm, the HOST is a viable method for identifying viable sperm for ICSI. These two cases, caused by <i>SPEF2</i> and <i>CFAP251</i> mutations, provide clinical evidence supporting the potential for successful assisted conception via ICSI in MMAF patients with different genetic etiologies.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"200"},"PeriodicalIF":0.6,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184710","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}
AME Case ReportsPub Date : 2026-08-10eCollection Date: 2026-01-01DOI: 10.21037/acr-2026-0170
Xiying Zhou, Jing Li, Yanhua Ma, Xuxia Liang
{"title":"Postpartum macrophage activation syndrome with temporal dissociation of cytopenias in a patient with Kikuchi-Fujimoto disease and undifferentiated connective tissue disease: a case report.","authors":"Xiying Zhou, Jing Li, Yanhua Ma, Xuxia Liang","doi":"10.21037/acr-2026-0170","DOIUrl":"https://doi.org/10.21037/acr-2026-0170","url":null,"abstract":"<p><strong>Background: </strong>Macrophage activation syndrome (MAS) is a life-threatening hyperinflammatory disorder; postpartum MAS is extremely rare and often misdiagnosed due to overlap with sepsis and HELLP syndrome. Kikuchi-Fujimoto disease (KFD) and undifferentiated connective tissue disease (UCTD) may increase susceptibility, but reports are scarce. This case highlights the diagnostic challenges of postpartum MAS in the setting of overlapping inflammatory conditions.</p><p><strong>Case description: </strong>The patient was a 35-year-old primiparous woman with KFD and UCTD who underwent cesarean section for preeclampsia and cervical insufficiency. She developed septic shock postoperatively. Despite infection control, persistent fever and a distinct temporal dissociation emerged: platelets recovered from 12 to 198 ×10<sup>9</sup>/L while neutrophils initially remained normal but subsequently declined to 0.04×10<sup>9</sup>/L. Hyperferritinemia (>1,500 μg/L), hypertriglyceridemia (3.88 mmol/L), and hypofibrinogenemia (1.78 g/L) developed. The HScore was 176, exceeding the established cutoff of 169 associated with a high probability of reactive hemophagocytic syndrome. Natural killer (NK) cell activity was 2.76% (normal >15%), whereas serum sCD25 was unexpectedly low (<1.2 U/mL; reference range, 17.1-56.6 U/mL). Dexamethasone monotherapy failed, but adding ciclosporin led to rapid recovery.</p><p><strong>Conclusions: </strong>To our knowledge, postpartum MAS associated with KFD and UCTD has rarely been reported. This case demonstrates that a low or normal sCD25 level does not necessarily exclude the diagnosis of MAS. The temporal dissociation of platelet recovery preceding neutrophil decline may provide an early clue to distinguish evolving MAS from controlled infection. Prompt combination immunosuppressive therapy can be life-saving.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"199"},"PeriodicalIF":0.6,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184889","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}
AME Case ReportsPub Date : 2026-08-06eCollection Date: 2026-01-01DOI: 10.21037/acr-2026-0196
Qi Zhang, Zhiyu Li, Lingxi Liu, Xing Wei, Fan Zhang
{"title":"Postoperative chylothorax associated with lymphatic channels around the azygos arch after right upper lobectomy: a case report.","authors":"Qi Zhang, Zhiyu Li, Lingxi Liu, Xing Wei, Fan Zhang","doi":"10.21037/acr-2026-0196","DOIUrl":"https://doi.org/10.21037/acr-2026-0196","url":null,"abstract":"<p><strong>Background: </strong>Postoperative chylothorax is an uncommon complication of pulmonary resection and mediastinal lymph-node dissection. Anatomical variations of the thoracic duct and its tributaries are recognized, but their clinical relevance during right superior mediastinal lymphadenectomy may be difficult to appreciate. We report a case of postoperative chylothorax associated with an intraoperative finding of two lymphatic channels around the azygos arch after induction aumolertinib therapy.</p><p><strong>Case description: </strong>A 71-year-old woman with epidermal growth factor receptor (EGFR) L858R-mutant lung adenocarcinoma and a solitary brain metastasis underwent craniotomy followed by 3 months of induction aumolertinib. After radiographic response, she underwent uniportal video-assisted thoracoscopic right upper lobectomy with systematic mediastinal lymph-node dissection. During dissection of stations 2R and 4R near the azygos arch, a translucent lymphatic channel was injured and milky fluid was observed. Further local exploration identified two separate lymphatic channels around the azygos arch; their complete course and relationship to the azygos vein could not be confirmed. The injured superior channel was ligated and clipped, whereas the inferior channel appeared intact and was not manipulated. Postoperatively, chylothorax developed, with pleural-fluid triglycerides of 524 mg/dL and drainage of 620 mL/day. Conservative treatment with nil per os, total parenteral nutrition, and intravenous somatostatin at 125 μg/hour by continuous infusion was initiated on postoperative day (POD) 1 and discontinued on POD 4. The chest tube was removed on POD 7, and no recurrent chylothorax or tumor progression was observed during 9 months of follow-up.</p><p><strong>Conclusions: </strong>This case describes an intraoperative observation of two lymphatic channels around the azygos arch during right superior mediastinal lymphadenectomy. Because no dedicated lymphatic imaging or formal anatomical confirmation was performed, the complete lymphatic course and anatomical classification of these channels remain uncertain. This observation is hypothesis-generating and should not be interpreted as definitive confirmation of a thoracic duct anomaly.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"195"},"PeriodicalIF":0.6,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184722","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}
AME Case ReportsPub Date : 2026-08-06eCollection Date: 2026-01-01DOI: 10.21037/acr-2026-0179
Saulė Kiaunytė
{"title":"A complex pediatric cervical lymphadenopathy: case report.","authors":"Saulė Kiaunytė","doi":"10.21037/acr-2026-0179","DOIUrl":"https://doi.org/10.21037/acr-2026-0179","url":null,"abstract":"<p><strong>Background: </strong>Cervical lymphadenopathy associated with <i>Mycoplasma pneumoniae</i> (<i>M. pneumoniae</i>) is an uncommon manifestation. Nevertheless, it should be considered in the differential diagnosis of prolonged fever combined with other symptoms and not overlooked as a potential underlying cause.</p><p><strong>Case description: </strong>This case report describes a 5-year-old girl presenting with high-grade fever, cough, neck and throat pain, and enlarged cervical lymph nodes. At initial presentation, this case appeared relatively straightforward, with laboratory findings suggestive of a bacterial infection. Accordingly, a diagnosis of bacterial tonsillitis and lymphadenitis was established, and treatment with a broad-spectrum penicillin was initiated. The patient demonstrated initial signs of clinical improvement during the first 2 days of hospitalization; however, enlarged and painful lymph nodes persisted. By the end of the second hospital day, her condition deteriorated, with recurrence of high-grade fever. The challenging part of this case was the discrepancy between the clinical presentation and laboratory findings. Despite persistent fever and ongoing painful cervical lymphadenopathy, repeated laboratory investigations demonstrated improvement, including a decrease in leukocyte count, neutrophilia, and C-reactive protein (CRP) levels. Following thorough evaluation and serial blood testing, elevated <i>M. pneumoniae</i> immunoglobulin M (IgM) levels were identified. After initiation of macrolide therapy, the patient achieved full clinical recovery.</p><p><strong>Conclusions: </strong>This case report highlights the importance of considering atypical bacterial infections in the differential diagnosis. Clinicians should be aware that these pathogens may present with atypical clinical manifestations, which can complicate and delay diagnosis.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"194"},"PeriodicalIF":0.6,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184762","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 autosomal recessive dystrophic epidermolysis bullosa caused by compound heterozygous <i>COL7A1</i> variants: a case report.","authors":"Zhongfen Cao, Cheng Peng, Xueyan Du, Shan Li, Wenxin Chen, Xin Zhang","doi":"10.21037/acr-2026-0166","DOIUrl":"https://doi.org/10.21037/acr-2026-0166","url":null,"abstract":"<p><strong>Background: </strong>Epidermolysis bullosa (EB) is a rare inherited blistering disorder characterized by extreme skin fragility. Autosomal recessive dystrophic EB (RDEB) represents one of the most severe subtypes, typically presenting at birth with widespread cutaneous and mucosal involvement. Management during the neonatal period is particularly challenging, and early diagnosis with appropriate supportive care is essential.</p><p><strong>Case description: </strong>We report the case of a full-term female neonate who developed generalized bullous skin lesions and oral mucosal involvement shortly after birth. Infectious causes were excluded. Genetic analysis identified two heterozygous pathogenic frameshift variants in the <i>COL7A1</i> gene, inherited from each parent, consistent with RDEB. The infant received individualized supportive management, including a thermally controlled environment, protective handling, and structured local wound care. With meticulous nursing care, the skin lesions improved significantly, and caregivers were instructed on appropriate home-based wound management.</p><p><strong>Conclusions: </strong>This case highlights the importance of early genetic confirmation and comprehensive nursing care for neonates with RDEB. Structured wound care protocols and early caregiver education may help stabilize skin lesions and ensure continuity of care during the neonatal period. Long-term follow-up and continuous multidisciplinary support remain important for maintaining skin integrity and optimizing the quality of life of affected patients. This case also provides practical experience for the early management of neonatal RDEB in clinical practice.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"192"},"PeriodicalIF":0.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184727","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}
AME Case ReportsPub Date : 2026-08-05eCollection Date: 2026-01-01DOI: 10.21037/acr-2026-0154
Huda Abdul Halim, Shelina Oli Mohamed, Nur Amirah Shibraumalisi
{"title":"Presumed ocular tuberculosis presenting as a subfoveal choroidal granuloma in a healthcare professional: a case report.","authors":"Huda Abdul Halim, Shelina Oli Mohamed, Nur Amirah Shibraumalisi","doi":"10.21037/acr-2026-0154","DOIUrl":"https://doi.org/10.21037/acr-2026-0154","url":null,"abstract":"<p><strong>Background: </strong>Ocular tuberculosis (OTB) is a great masquerader and may occur without pulmonary symptoms, making its diagnosis challenging. In endemic regions like Malaysia, clinicians should consider OTB in patients with unexplained posterior segment ocular lesions. This report describes presumptive OTB with underlying tuberculous lymphadenitis in a healthcare professional; however, the source of tuberculosis (TB) exposure could not be established.</p><p><strong>Case description: </strong>A 36-year-old primary care physician with 12 years of clinical experience presented with a 1-day history of sudden wavy line vision (metamorphopsia) and a central scotoma in her left eye. Slit-lamp examination revealed a solitary yellowish choroidal granuloma with a baseline best-corrected visual acuity (BCVA) of 6/9. Although she was systemically asymptomatic, a further investigation workup led to a diagnosis of presumptive OTB with underlying tuberculous lymphadenitis. This was supported by a positive Mantoux test (14 mm), a positive interferon-gamma release assay (IGRA), and bilateral hilar lymphadenopathy on a contrast-enhanced computed tomography (CECT) thorax. Following the initiation of a nine-month course of anti-tuberculosis therapy (ATT), the patient's vision fully restored to 6/6 alongside complete resolution of the choroidal lesion, and she remained entirely recurrence-free at the 1-year follow-up.</p><p><strong>Conclusions: </strong>This case underscores the eye's role as a potential clinical indicator for occult systemic TB. In endemic regions, unexplained posterior-segment ocular findings should prompt consideration of extra-pulmonary TB workup, even in the absence of pulmonary symptoms. Diagnosing OTB remains a complex clinical challenge as it is predominantly a presumptive diagnosis, where definitive confirmation typically necessitates high-risk, invasive procedures that rarely yield the pathogen.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"196"},"PeriodicalIF":0.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184839","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":"Intracranial activity of amivantamab combined with carboplatin and pemetrexed in epidermal growth factor receptor exon 20 insertion-positive non-small cell lung cancer with brain metastases: a report of three cases.","authors":"Yutaka Fujiwara, Yutaro Tamiya, Teppei Yamaguchi, Naohiro Watanabe, Junichi Shimizu, Yoshitsugu Horio","doi":"10.21037/acr-2026-0096","DOIUrl":"https://doi.org/10.21037/acr-2026-0096","url":null,"abstract":"<p><strong>Background: </strong>Epidermal growth factor receptor (EGFR) exon 20 insertion (Ex20ins) mutations in non-small cell lung cancer (NSCLC) are largely insensitive to conventional EGFR tyrosine kinase inhibitors (TKIs) because of steric hindrance in the TKI-binding pocket. Amivantamab, an EGFR-MET bispecific antibody, has been approved for use in combination with chemotherapy as the first-line treatment for EGFR Ex20ins NSCLC. However, intracranial activity remains unknown because monoclonal antibodies are generally thought to have limited central nervous system (CNS) penetration.</p><p><strong>Case description: </strong>We report three patients with advanced NSCLC with EGFR Ex20ins and with asymptomatic brain metastases who were treated with carboplatin, pemetrexed, and amivantamab (PAPILLON regimen). Case 1 was a 48-year-old woman with ≥10 asymptomatic brain metastases that developed during prior treatment with carboplatin, pemetrexed, and an investigational TKI targeting their <i>EGFR</i> ex20ins mutations; she achieved intracranial and extracranial partial responses. Case 2 was a 67-year-old man with postoperative recurrence and new brain metastases arising during another investigational EGFR-TKI monotherapy; he achieved a complete intracranial response. Case 3 was a 35-year-old man with previously untreated advanced lung adenocarcinoma and multiple asymptomatic brain metastases, which demonstrated intracranial and extracranial partial responses within two months.</p><p><strong>Conclusions: </strong>These three cases provide clinical evidence that carboplatin, pemetrexed, and amivantamab may exert clinically meaningful intracranial antitumor activity in patients with EGFR Ex20ins NSCLC harboring small, asymptomatic brain metastases. Amivantamab, a bispecific antibody, combined with carboplatin and pemetrexed may exert clinically meaningful intracranial antitumor activity.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"191"},"PeriodicalIF":0.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184720","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}