Medical Reports最新文献_第8页

Triple attack: Cytomegalovirus, mycobacterium avium complex and aspergillus co-infection presenting as a cavitary pulmonary lesion in a patient with human immunodeficiency virus 三重攻击：巨细胞病毒、鸟分枝杆菌复合体和曲霉菌共同感染，在人类免疫缺陷病毒患者中表现为肺空洞性病变

Medical Reports

Pub Date : 2025-08-24 DOI: 10.1016/j.hmedic.2025.100350

Ryan Njeim , Michel Al-Achkar , Wei Xue , Allison Glaser

Background

Opportunistic infections are a significant concern in immunocompromised patients, particularly those with human immunodeficiency virus (HIV). The diagnosis of these infections can be challenging due to overlapping clinical and radiological findings.

Case description

We report a rare case of triple co-infection by cytomegalovirus (CMV), Mycobacterium chimaera, and Aspergillus fumigatus causing pneumonia with a cavitary lesion in a 43-year-old HIV-infected female, non-adherent to antiretroviral therapy. Chest imaging revealed a left upper lobe cavitary lesion with ground-glass opacities. Serum CMV PCR was strongly positive. Bronchoscopic biopsy showed Aspergillus and focal CMV pneumonia, while post-discharge culture grew Aspergillus and Mycobacterium chimaera. The patient was treated with intravenous ganciclovir and voriconazole, then discharged on oral medications with plans for MAC treatment.

Conclusion

This case represents the first reported triple co-infection of its kind, particularly noteworthy given the patient's CD4 count above 50 cells/mm³ . It underscores the importance of comprehensive diagnostic workup and highlights the challenges in managing multiple opportunistic infections in severely immunocompromised individuals.

背景：机会性感染是免疫功能低下患者，特别是人类免疫缺陷病毒（HIV）患者的一个重要问题。由于临床和放射学发现重叠，这些感染的诊断可能具有挑战性。病例描述：我们报告一例罕见的巨细胞病毒（CMV）、嵌合分枝杆菌和烟曲霉三重合并感染的病例，该病例发生在一名43岁的hiv感染女性中，抗逆转录病毒治疗无效。胸部影像学显示左侧上肺叶空洞病变伴磨玻璃样混浊。血清CMV PCR阳性。支气管镜活检显示曲霉菌和局灶性巨细胞病毒肺炎，出院后培养显示曲霉菌和分枝杆菌嵌合体。患者静脉给予更昔洛韦和伏立康唑治疗，出院后口服药物治疗，并计划进行MAC治疗。结论该病例是首次报道的三重合并感染，特别是考虑到患者CD4细胞计数高于50细胞/mm³ 。它强调了全面诊断检查的重要性，并强调了在严重免疫功能低下个体中管理多重机会性感染的挑战。

{"title":"Triple attack: Cytomegalovirus, mycobacterium avium complex and aspergillus co-infection presenting as a cavitary pulmonary lesion in a patient with human immunodeficiency virus","authors":"Ryan Njeim , Michel Al-Achkar , Wei Xue , Allison Glaser","doi":"10.1016/j.hmedic.2025.100350","DOIUrl":"10.1016/j.hmedic.2025.100350","url":null,"abstract":"<div><h3>Background</h3><div>Opportunistic infections are a significant concern in immunocompromised patients, particularly those with human immunodeficiency virus (HIV). The diagnosis of these infections can be challenging due to overlapping clinical and radiological findings.</div></div><div><h3>Case description</h3><div>We report a rare case of triple co-infection by cytomegalovirus (CMV), Mycobacterium chimaera, and Aspergillus fumigatus causing pneumonia with a cavitary lesion in a 43-year-old HIV-infected female, non-adherent to antiretroviral therapy. Chest imaging revealed a left upper lobe cavitary lesion with ground-glass opacities. Serum CMV PCR was strongly positive. Bronchoscopic biopsy showed Aspergillus and focal CMV pneumonia, while post-discharge culture grew Aspergillus and Mycobacterium chimaera. The patient was treated with intravenous ganciclovir and voriconazole, then discharged on oral medications with plans for MAC treatment.</div></div><div><h3>Conclusion</h3><div>This case represents the first reported triple co-infection of its kind, particularly noteworthy given the patient's CD4 count above 50 cells/mm³ . It underscores the importance of comprehensive diagnostic workup and highlights the challenges in managing multiple opportunistic infections in severely immunocompromised individuals.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100350"},"PeriodicalIF":0.0,"publicationDate":"2025-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144896264","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

Kawasaki disease as a rare cause of suppurative sterile lymphadenitis in pediatrics 川崎病是小儿化脓性无菌性淋巴结炎的罕见病因

Medical Reports

Pub Date : 2025-08-22 DOI: 10.1016/j.hmedic.2025.100351

Sarah Magdy Abdelmohsen , Walid Hussein , Marwa T. Hussien

Background

Pediatric surgeons frequently encounter pediatric patients with various differential diagnoses for neck lymph node swelling. Kawasaki disease is a rare cause of neck lymph node swelling in children.

Case reports

A nine-year-old boy presented with a right-sided neck lymph node mass and fever for two days. Inflammatory markers were elevated. An abscess or liquefactive necrosis developed within the enlarged lymph nodes. An intraoperative swab tested negative for pathogens, and the blood culture was unremarkable. The child was diagnosed with Kawasaki disease.

Discussion

The number of children diagnosed with Kawasaki disease has increased over the past two years, particularly during the COVID-19 pandemic. In this case, the sterile abscess resulted from the vascular necrosis of significantly enlarged lymph nodes and vasculitis affecting the supplying blood vessels.

Conclusion

Kawasaki disease is a rare cause of suppurative sterile neck lymphadenitis in children. Early diagnosis and timely treatment with intravenous immunoglobulin (IVIG) significantly improve the prognosis of Kawasaki disease.

背景：儿科外科医生经常遇到小儿患者的各种鉴别诊断为颈部淋巴结肿大。川崎病是儿童颈部淋巴结肿大的罕见病因。病例报告：一名九岁男童因右侧颈部淋巴结肿物及发烧2天。炎症标志物升高。肿大的淋巴结内出现脓肿或液化性坏死。术中拭子的病原体检测呈阴性，血培养结果也很正常。这名儿童被诊断患有川崎病。在过去两年中，特别是在COVID-19大流行期间，被诊断患有川崎病的儿童人数有所增加。在这个病例中，无菌脓肿是由明显扩大的淋巴结的血管坏死和影响供血血管的血管炎引起的。结论川崎病是儿童化脓性无菌性颈部淋巴结炎的罕见病因。早期诊断和及时治疗静脉注射免疫球蛋白（IVIG）可显著改善川崎病的预后。

{"title":"Kawasaki disease as a rare cause of suppurative sterile lymphadenitis in pediatrics","authors":"Sarah Magdy Abdelmohsen , Walid Hussein , Marwa T. Hussien","doi":"10.1016/j.hmedic.2025.100351","DOIUrl":"10.1016/j.hmedic.2025.100351","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric surgeons frequently encounter pediatric patients with various differential diagnoses for neck lymph node swelling. Kawasaki disease is a rare cause of neck lymph node swelling in children.</div></div><div><h3>Case reports</h3><div>A nine-year-old boy presented with a right-sided neck lymph node mass and fever for two days. Inflammatory markers were elevated. An abscess or liquefactive necrosis developed within the enlarged lymph nodes. An intraoperative swab tested negative for pathogens, and the blood culture was unremarkable. The child was diagnosed with Kawasaki disease.</div></div><div><h3>Discussion</h3><div>The number of children diagnosed with Kawasaki disease has increased over the past two years, particularly during the COVID-19 pandemic. In this case, the sterile abscess resulted from the vascular necrosis of significantly enlarged lymph nodes and vasculitis affecting the supplying blood vessels.</div></div><div><h3>Conclusion</h3><div>Kawasaki disease is a rare cause of suppurative sterile neck lymphadenitis in children. Early diagnosis and timely treatment with intravenous immunoglobulin (IVIG) significantly improve the prognosis of Kawasaki disease.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100351"},"PeriodicalIF":0.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026608","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

A comprehensive analysis of aberrant immunophenotypes in T-ALL T-ALL异常免疫表型的综合分析

Medical Reports

Pub Date : 2025-08-21 DOI: 10.1016/j.hmedic.2025.100347

Chintamani Pathak, Neha Aggarwal, Smriti Sharan, Siddhartha Sankar Samanta

T cell Acute Lymphoblastic Leukemia (T-ALL) is an aggressive hematologic malignancy characterized by the clonal proliferation of immature T lymphocytes. It accounts for approximately 15 % of childhood ALL cases. Aberrant expression of immunophenotype markers is not uncommon in Acute leukemia, especially T-ALL. Aberrant phenotype in T ALL previously are CD10, CD19,CD79a, CD13, CD33, CD117, CD15 and CD11b. In this case series, we describe clinicopathological profile of 7 T ALL cases with aberrant immunophenotype. All cases diagnosed as T ALL on flow cytometry over a period of 2.5 years were included in this study with emphasis on cases expressing aberrant immunophenotype.Among 29 diagnosed cases T ALL, 8 cases exhibited expression of aberrant markers CD10 (6 cases, paediatric), CD33 (1 case, paediatric),CD117 (1 case, paediatric)co expression of CD10 and CD33 (1 case, paediatric), co expression of CD10, CD79a and CD13 (1 case, adult). The detection of aberrant immunophenotypic markers in T-ALL poses considerable diagnostic challenges. The study underscores the importance of comprehensive diagnostic workup including flowcytometry in managing atypical presentations of T-ALL. It highlights the diagnostic complexity of common & uncommon aberrant immunophenotypes in T-ALL, emphasizing the need for detailed molecular and immunophenotypic profiling to guide treatment planning.In our study, CD10 was found to be the most common aberrant immunophenotype as reported previously. The only adult patient with aberrant immunophenotype had coexpression of 3 CD markers and 1 paediatric case coexpressed 2 CD markers which is rare. None of our cases showed aberrant expression of CD19, CD15 and CD11b.

T细胞急性淋巴细胞白血病（T- all）是一种侵袭性血液系统恶性肿瘤，其特征是未成熟T淋巴细胞的克隆性增殖。它约占儿童ALL病例的15% %。免疫表型标志物的异常表达在急性白血病中并不罕见，尤其是T-ALL。以前，T ALL的异常表型是CD10、CD19、CD79a、CD13、CD33、CD117、CD15和CD11b。在这个病例系列中，我们描述了7例具有异常免疫表型的 T ALL病例的临床病理特征。所有在2.5年内流式细胞术诊断为T淋巴细胞白血病的病例被纳入本研究，重点是表达异常免疫表型的病例。29例确诊的T ALL患者中，CD10（6例，儿童）、CD33（1例，儿童）、CD117（1例，儿童）、CD10和CD33（1例，儿童）共同表达、CD10、CD79a和CD13（1例，成人）共同表达异常标志物8例。异常免疫表型标记在T-ALL的检测提出了相当大的诊断挑战。该研究强调了包括流式细胞术在内的综合诊断检查在治疗非典型T-ALL中的重要性。它强调了T-ALL中常见的异常免疫表型诊断的复杂性，强调了详细的分子和免疫表型分析来指导治疗计划的必要性。在我们的研究中，发现CD10是最常见的异常免疫表型，正如之前报道的那样。唯一一例免疫表型异常的成人患者共表达3个CD标记物，1例儿科患者共表达2个CD标记物，这是罕见的。我们的病例均未出现CD19、CD15和CD11b的异常表达。

{"title":"A comprehensive analysis of aberrant immunophenotypes in T-ALL","authors":"Chintamani Pathak, Neha Aggarwal, Smriti Sharan, Siddhartha Sankar Samanta","doi":"10.1016/j.hmedic.2025.100347","DOIUrl":"10.1016/j.hmedic.2025.100347","url":null,"abstract":"<div><div>T cell Acute Lymphoblastic Leukemia (T-ALL) is an aggressive hematologic malignancy characterized by the clonal proliferation of immature T lymphocytes. It accounts for approximately 15 % of childhood ALL cases. Aberrant expression of immunophenotype markers is not uncommon in Acute leukemia, especially T-ALL. Aberrant phenotype in T ALL previously are CD10, CD19,CD79a, CD13, CD33, CD117, CD15 and CD11b. In this case series, we describe clinicopathological profile of 7 T ALL cases with aberrant immunophenotype. All cases diagnosed as T ALL on flow cytometry over a period of 2.5 years were included in this study with emphasis on cases expressing aberrant immunophenotype.Among 29 diagnosed cases T ALL, 8 cases exhibited expression of aberrant markers CD10 (6 cases, paediatric), CD33 (1 case, paediatric),CD117 (1 case, paediatric)co expression of CD10 and CD33 (1 case, paediatric), co expression of CD10, CD79a and CD13 (1 case, adult). The detection of aberrant immunophenotypic markers in T-ALL poses considerable diagnostic challenges. The study underscores the importance of comprehensive diagnostic workup including flowcytometry in managing atypical presentations of T-ALL. It highlights the diagnostic complexity of common & uncommon aberrant immunophenotypes in T-ALL, emphasizing the need for detailed molecular and immunophenotypic profiling to guide treatment planning.In our study, CD10 was found to be the most common aberrant immunophenotype as reported previously. The only adult patient with aberrant immunophenotype had coexpression of 3 CD markers and 1 paediatric case coexpressed 2 CD markers which is rare. None of our cases showed aberrant expression of CD19, CD15 and CD11b.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100347"},"PeriodicalIF":0.0,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144896288","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

Mucinous carcinoma of the breast: A case report and comprehensive literature review 乳腺黏液性癌1例报告及文献复习

Medical Reports

Pub Date : 2025-08-19 DOI: 10.1016/j.hmedic.2025.100346

A. Khallaf , M. Oussafi , H. Ouazzani , I. Chaouche , A. Akammar , N. EL Bouardi , B. Alami , MY. Alaoui Lamrani , M. Maaroufi , M. Boubbou

Background

Mucinous carcinoma is a rare histologic subtype of breast cancer, accounting for 1–4 % of all cases. It predominantly affects older women and generally presents a favorable prognosis compared to other invasive breast cancers.

Case summary

We report the case of a 54-year-old woman presenting with a slowly enlarging right breast mass. Clinical and imaging examinations revealed a lobulated lesion in the lower outer quadrant of the right breast. Core needle biopsy confirmed the diagnosis of grade II mucinous carcinoma. The patient underwent mastectomy with sentinel lymph node biopsy, which was negative for metastasis. Histopathological examination confirmed a pure mucinous carcinoma. Postoperatively, the patient was referred for adjuvant radiotherapy.

Conclusion

This case highlights the importance of correlating imaging and histological features to ensure timely diagnosis of mucinous carcinoma and underscores its generally favorable outcome when appropriately managed.

背景：黏液癌是一种罕见的乳腺癌组织学亚型，占所有病例的1-4 %。它主要影响老年妇女，与其他浸润性乳腺癌相比，通常预后良好。我们报告一例54岁的女性，表现为右乳房缓慢增大的肿块。临床及影像学检查显示右乳房下外侧有分叶状病变。核心穿刺活检证实II级粘液癌的诊断。患者行乳房切除术并前哨淋巴结活检，未发现转移。组织病理学检查证实为纯粹黏液性癌。术后患者行辅助放疗。结论本病例强调了将影像学和组织学特征相结合以确保及时诊断黏液癌的重要性，并强调了在适当处理下其通常良好的预后。

{"title":"Mucinous carcinoma of the breast: A case report and comprehensive literature review","authors":"A. Khallaf , M. Oussafi , H. Ouazzani , I. Chaouche , A. Akammar , N. EL Bouardi , B. Alami , MY. Alaoui Lamrani , M. Maaroufi , M. Boubbou","doi":"10.1016/j.hmedic.2025.100346","DOIUrl":"10.1016/j.hmedic.2025.100346","url":null,"abstract":"<div><h3>Background</h3><div>Mucinous carcinoma is a rare histologic subtype of breast cancer, accounting for 1–4 % of all cases. It predominantly affects older women and generally presents a favorable prognosis compared to other invasive breast cancers.</div></div><div><h3>Case summary</h3><div>We report the case of a 54-year-old woman presenting with a slowly enlarging right breast mass. Clinical and imaging examinations revealed a lobulated lesion in the lower outer quadrant of the right breast. Core needle biopsy confirmed the diagnosis of grade II mucinous carcinoma. The patient underwent mastectomy with sentinel lymph node biopsy, which was negative for metastasis. Histopathological examination confirmed a pure mucinous carcinoma. Postoperatively, the patient was referred for adjuvant radiotherapy.</div></div><div><h3>Conclusion</h3><div>This case highlights the importance of correlating imaging and histological features to ensure timely diagnosis of mucinous carcinoma and underscores its generally favorable outcome when appropriately managed.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100346"},"PeriodicalIF":0.0,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144865319","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

Recurrent ischemic strokes in a patient with ITP: A case report ITP患者复发性缺血性卒中1例报告

Medical Reports

Pub Date : 2025-08-16 DOI: 10.1016/j.hmedic.2025.100343

Ahmad S. Ali , Yaqian Xu , Walter Husar

Background

Primary Immune Thrombocytopenia (ITP) is typically associated with bleeding risks due to thrombocytopenia. However, paradoxical thrombotic events such as stroke may occur in rare cases, posing a clinical dilemma in management.

Case presentation

We present the case of a 65-year-old male with a history of ITP and recurrent venous thromboembolism who experienced multiple ischemic strokes despite therapeutic anticoagulation. The initial presentation revealed subacute bilateral frontal infarcts while on Rivaroxaban, with extensive workup suggesting a cryptogenic stroke etiology. The patient was subsequently switched to Warfarin and treated for ITP with steroids and Rituximab, resulting in improved platelet counts. Eight months later, he suffered a pontine infarct despite therapeutic INR. His anticoagulation goal was adjusted, and he remained stroke-free on close follow-up.

Discussion:

This case highlights the underrecognized thrombotic risk in ITP patients and the challenges in balancing anticoagulation with bleeding risk. Mechanisms may include increased platelet microparticles and immune-mediated endothelial injury. The individualized INR target and ITP treatment strategy led to improved clinical outcomes.

Conclusion

ITP can predispose patients to thrombotic complications such as stroke, even in the setting of thrombocytopenia. Personalized anticoagulation goals and multidisciplinary care are critical for optimal management. Further studies are needed to establish standardized treatment guidelines for this unique patient population.

原发性免疫性血小板减少症（ITP）通常与血小板减少引起的出血风险相关。然而，矛盾的血栓事件，如中风可能发生在罕见的情况下，提出了一个临床困境的管理。病例介绍：我们报告一位65岁男性，有ITP和静脉血栓栓塞复发史，尽管有抗凝治疗，但仍经历了多次缺血性中风。最初的表现是服用利伐沙班时出现亚急性双侧额叶梗死，广泛的检查提示隐源性卒中病因。患者随后改用华法林，并用类固醇和利妥昔单抗治疗ITP，导致血小板计数改善。8个月后，尽管进行了治疗性INR，他还是患上了脑桥梗死。他的抗凝目标被调整，在密切随访中他仍然没有中风。讨论：本病例强调了ITP患者未被充分认识的血栓形成风险，以及平衡抗凝与出血风险的挑战。其机制可能包括血小板微粒增加和免疫介导的内皮损伤。个体化的INR靶点和ITP治疗策略改善了临床结果。结论即使在血小板减少的情况下，itp也可使患者易发生血栓性并发症，如卒中。个性化抗凝目标和多学科护理是最佳管理的关键。需要进一步的研究来为这一独特的患者群体建立标准化的治疗指南。

{"title":"Recurrent ischemic strokes in a patient with ITP: A case report","authors":"Ahmad S. Ali , Yaqian Xu , Walter Husar","doi":"10.1016/j.hmedic.2025.100343","DOIUrl":"10.1016/j.hmedic.2025.100343","url":null,"abstract":"<div><h3>Background</h3><div>Primary Immune Thrombocytopenia (ITP) is typically associated with bleeding risks due to thrombocytopenia. However, paradoxical thrombotic events such as stroke may occur in rare cases, posing a clinical dilemma in management.</div></div><div><h3>Case presentation</h3><div>We present the case of a 65-year-old male with a history of ITP and recurrent venous thromboembolism who experienced multiple ischemic strokes despite therapeutic anticoagulation. The initial presentation revealed subacute bilateral frontal infarcts while on Rivaroxaban, with extensive workup suggesting a cryptogenic stroke etiology. The patient was subsequently switched to Warfarin and treated for ITP with steroids and Rituximab, resulting in improved platelet counts. Eight months later, he suffered a pontine infarct despite therapeutic INR. His anticoagulation goal was adjusted, and he remained stroke-free on close follow-up.</div></div><div><h3>Discussion:</h3><div>This case highlights the underrecognized thrombotic risk in ITP patients and the challenges in balancing anticoagulation with bleeding risk. Mechanisms may include increased platelet microparticles and immune-mediated endothelial injury. The individualized INR target and ITP treatment strategy led to improved clinical outcomes.</div></div><div><h3>Conclusion</h3><div>ITP can predispose patients to thrombotic complications such as stroke, even in the setting of thrombocytopenia. Personalized anticoagulation goals and multidisciplinary care are critical for optimal management. Further studies are needed to establish standardized treatment guidelines for this unique patient population.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100343"},"PeriodicalIF":0.0,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157642","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

When immunotherapy strikes the heart: A multimodal approach to immune checkpoint inhibitors induced myocarditis: A case series and literature review 当免疫疗法打击心脏：免疫检查点抑制剂诱导心肌炎的多模式方法：一个病例系列和文献综述

Medical Reports

Pub Date : 2025-08-16 DOI: 10.1016/j.hmedic.2025.100345

Ahmed Basuoni , Marwa Makhlouf , Waleed Dawelbeit , Donia Ahmed , Hadil Al-Sharqi , Suhaila Al Farsi , Khalid Al-Baimani

Background

Immune checkpoint inhibitors (ICI) use is associated with potentially life-threatening cardiovascular complication including myocarditis. This case series aims to evaluate the different management approaches and outcomes of ICI-induced myocarditis with a comparative review with international benchmarks.

Methods

This retrospective case series analyzed patients diagnosed with ICI-induced myocarditis at Sultan Qaboos Comprehensive Cancer Care and Research Center (SQCCCRC). The diagnosis of ICI-induced myocarditis was based on clinical presentation, cardiac biomarkers, and cardiac imaging after the exclusion of other differential diagnoses. Management strategies included corticosteroids and immunosuppressive therapy. Clinical outcomes and mortality were monitored longitudinally compared with a literature review of international benchmarks.

Results

A total of 6 cases were identified over 2 years, with a myocarditis prevalence of 1.8 %. Myocarditis onset occurred anytime between the first and the ninth cycle, with clinical presentations varying from mild symptoms to severe presentations with stroke, steroid resistance, and cardiogenic shock. Multimodality imaging, particularly cardiac magnetic resonance, was utilized; the mainstay therapy included corticosteroids, with one refractory case requiring mycophenolate mofetil (MMF). Complete recovery occurred in five patients.

Conclusion

The study outcome showed that the incidence of ICI-induced myocarditis may be under-reported due to underdiagnosis and the absence of risk stratification protocols in many cancer centers. For treatment of non-fulminant or Grade I/II cases, oral steroids should be considered, while steroid resistance may necessitate alternative immunosuppressive therapies. Multidisciplinary team discussions are essential to assess the continuation of ICI therapy in possible cases. Protocols enhancing early detection and timely steroid therapy initiation improve outcomes.

免疫检查点抑制剂（ICI）的使用与包括心肌炎在内的潜在危及生命的心血管并发症相关。本病例系列旨在评估ici诱导心肌炎的不同治疗方法和结果，并与国际基准进行比较回顾。方法回顾性分析苏丹卡布斯综合癌症护理与研究中心（SQCCCRC）诊断为ici性心肌炎的患者。ici性心肌炎的诊断是基于临床表现、心脏生物标志物和排除其他鉴别诊断后的心脏影像学。治疗策略包括皮质类固醇和免疫抑制治疗。对临床结果和死亡率进行纵向监测，并与国际基准文献综述进行比较。结果2年内共发现6例心肌炎，心肌炎患病率为1.8 %。心肌炎可发生在第1 - 9个周期之间的任何时间，临床表现从轻微症状到严重症状，包括中风、类固醇抵抗和心源性休克。采用多模态成像，特别是心脏磁共振；主要治疗包括皮质类固醇，一个难治性病例需要霉酚酸酯（MMF）。5例患者完全康复。结论本研究结果表明，在许多癌症中心，由于诊断不足和缺乏风险分层方案，ici诱导的心肌炎发病率可能被低估。对于非暴发性或I/II级病例的治疗，应考虑口服类固醇，而类固醇耐药性可能需要替代免疫抑制治疗。多学科小组讨论对于评估可能病例中ICI治疗的继续是必要的。加强早期发现和及时开始类固醇治疗的方案改善了结果。

{"title":"When immunotherapy strikes the heart: A multimodal approach to immune checkpoint inhibitors induced myocarditis: A case series and literature review","authors":"Ahmed Basuoni , Marwa Makhlouf , Waleed Dawelbeit , Donia Ahmed , Hadil Al-Sharqi , Suhaila Al Farsi , Khalid Al-Baimani","doi":"10.1016/j.hmedic.2025.100345","DOIUrl":"10.1016/j.hmedic.2025.100345","url":null,"abstract":"<div><h3>Background</h3><div>Immune checkpoint inhibitors (ICI) use is associated with potentially life-threatening cardiovascular complication including myocarditis. This case series aims to evaluate the different management approaches and outcomes of ICI-induced myocarditis with a comparative review with international benchmarks.</div></div><div><h3>Methods</h3><div>This retrospective case series analyzed patients diagnosed with ICI-induced myocarditis at Sultan Qaboos Comprehensive Cancer Care and Research Center (SQCCCRC). The diagnosis of ICI-induced myocarditis was based on clinical presentation, cardiac biomarkers, and cardiac imaging after the exclusion of other differential diagnoses. Management strategies included corticosteroids and immunosuppressive therapy. Clinical outcomes and mortality were monitored longitudinally compared with a literature review of international benchmarks.</div></div><div><h3>Results</h3><div>A total of 6 cases were identified over 2 years, with a myocarditis prevalence of 1.8 %. Myocarditis onset occurred anytime between the first and the ninth cycle, with clinical presentations varying from mild symptoms to severe presentations with stroke, steroid resistance, and cardiogenic shock. Multimodality imaging, particularly cardiac magnetic resonance, was utilized; the mainstay therapy included corticosteroids, with one refractory case requiring mycophenolate mofetil (MMF). Complete recovery occurred in five patients.</div></div><div><h3>Conclusion</h3><div>The study outcome showed that the incidence of ICI-induced myocarditis may be under-reported due to underdiagnosis and the absence of risk stratification protocols in many cancer centers. For treatment of non-fulminant or Grade I/II cases, oral steroids should be considered, while steroid resistance may necessitate alternative immunosuppressive therapies. Multidisciplinary team discussions are essential to assess the continuation of ICI therapy in possible cases. Protocols enhancing early detection and timely steroid therapy initiation improve outcomes.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100345"},"PeriodicalIF":0.0,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144865317","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

Atypical cutaneous manifestations in hyperimmunoglobulin D syndrome: A case report 高免疫球蛋白D综合征的非典型皮肤表现：1例报告

Medical Reports

Pub Date : 2025-08-16 DOI: 10.1016/j.hmedic.2025.100344

Waad Alotaibi , Aisha Mirza , Hana Halabi , Amer Khojah

Hyperimmunoglobulin D syndrome (HIDS) is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase (MVK)gene. It is characterized by recurrent fever episodes, abdominal pain, elevated serum IgD levels, and systemic inflammation. We report a 5-year-old boy presenting with recurrent fever, abdominal pain, diarrhea, and hyperpigmented skin lesions. Physical examination revealed abdominal distension and multiple café-au-lait like spots on the lower extremities, with no lymphadenopathy or organomegaly. Whole-exome sequencing revealed a homozygous missense pathogenic variant (c.1129G>A; p.Val377Ile) in MVK gene. Abdominal CT revealed colonic wall thickening with mucosal hyperenhancement. However, the lower GI endoscopy was unremarkable. Skin biopsy was consistent with café-au-lait spots. Despite the inadequate response to colchicine and anakinra, the patient showed significant clinical improvement with canakinumab. This case underscores the diagnostic complexity of HIDS and suggests a potential novel association with café-au-lait macules. Early genetic testing is crucial for timely diagnosis and targeted therapy.

高免疫球蛋白D综合征（HIDS）是一种罕见的常染色体隐性自身炎症性疾病，由甲羟戊酸激酶（MVK）基因突变引起。其特点是反复发热、腹痛、血清IgD水平升高和全身炎症。我们报告一个5岁的男孩，表现为反复发烧，腹痛，腹泻和色素沉着的皮肤病变。体格检查显示腹胀，下肢有多处咖啡样斑点，未见淋巴结病变或器官肿大。全外显子组测序显示一个纯合子错义致病变异(c.1129G> a；p.Val377Ile)在MVK基因中。腹部CT示结肠壁增厚伴粘膜增高。然而，下消化道内镜检查无明显差异。皮肤活组织检查结果与卡萨梅-奥莱斑点一致。尽管秋水仙碱和阿那单抗的反应不足，但患者在使用canakinumab后表现出显著的临床改善。本病例强调了HIDS诊断的复杂性，并提示了一种潜在的与卡萨梅-奥莱斑疹的新关联。早期基因检测对于及时诊断和靶向治疗至关重要。

{"title":"Atypical cutaneous manifestations in hyperimmunoglobulin D syndrome: A case report","authors":"Waad Alotaibi , Aisha Mirza , Hana Halabi , Amer Khojah","doi":"10.1016/j.hmedic.2025.100344","DOIUrl":"10.1016/j.hmedic.2025.100344","url":null,"abstract":"<div><div>Hyperimmunoglobulin D syndrome (HIDS) is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase (MVK)gene. It is characterized by recurrent fever episodes, abdominal pain, elevated serum IgD levels, and systemic inflammation. We report a 5-year-old boy presenting with recurrent fever, abdominal pain, diarrhea, and hyperpigmented skin lesions. Physical examination revealed abdominal distension and multiple café-au-lait like spots on the lower extremities, with no lymphadenopathy or organomegaly. Whole-exome sequencing revealed a homozygous missense pathogenic variant (c.1129G>A; p.Val377Ile) in MVK gene. Abdominal CT revealed colonic wall thickening with mucosal hyperenhancement. However, the lower GI endoscopy was unremarkable. Skin biopsy was consistent with café-au-lait spots. Despite the inadequate response to colchicine and anakinra, the patient showed significant clinical improvement with canakinumab. This case underscores the diagnostic complexity of HIDS and suggests a potential novel association with café-au-lait macules. Early genetic testing is crucial for timely diagnosis and targeted therapy.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100344"},"PeriodicalIF":0.0,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144860304","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

Granulomatous mastitis: A 5-year single-center case series from North Africa 肉芽肿性乳腺炎：北非5年单中心病例系列

Medical Reports

Pub Date : 2025-08-08 DOI: 10.1016/j.hmedic.2025.100341

Regragui abdelmajide , Marouane boukroute , Hafsa Taheri , Hanane Saadi , Pr Ahmed Mimouni

Granulomatous mastitis (GM) is a rare, benign, chronic inflammatory breast disease that clinically mimics malignancy. Despite increased recognition, GM remains difficult to diagnose and manage due to its nonspecific presentation and unclear etiology. To characterize the clinico-radiological and histopathological spectrum of granulomatous mastitis, identify factors associated with recurrence, and propose a context-specific diagnostic and therapeutic algorithm suitable for low-resource settings. A retrospective analysis of all histologically confirmed GM cases treated at CHU Mohammed VI Oujda from 2019 to 2024 was conducted. Demographic, clinical, imaging, histopathological, and therapeutic data were extracted and analyzed. Recurrence risk was assessed based on management strategies and clinical presentation. Forty-five cases of GM were identified. The mean age was 34 years; 78 % were multiparous and 91 % had a history of breastfeeding. The most frequent presentation was a unilateral breast mass (84 %), often painful (65 %) with inflammatory signs (47 %). Imaging findings were nonspecific; ultrasound showed irregular hypoechoic masses in 68 % of cases. Histopathology confirmed non-caseating lobulocentric granulomas in all cases. Corticosteroids were administered in 40 %, surgery in 35 %, while 15 % had spontaneous resolution. The recurrence rate was 18 %, predominantly among those managed conservatively or without corticosteroids. GM poses diagnostic and therapeutic challenges, particularly in resource-limited contexts. Accurate histopathological diagnosis is essential to avoid mismanagement. Recurrence appears more likely with conservative strategies, highlighting the need for standardized, individualized management. A diagnostic and therapeutic algorithm is proposed to guide clinical decision-making.

肉芽肿性乳腺炎（GM）是一种罕见的，良性的，慢性炎症性乳腺疾病，临床模拟恶性肿瘤。尽管越来越多的认识，GM仍然难以诊断和管理，由于其非特异性的表现和不明确的病因。表征肉芽肿性乳腺炎的临床放射学和组织病理学谱，确定与复发相关的因素，并提出适合低资源环境的特定环境的诊断和治疗算法。回顾性分析了2019年至2024年在朱穆罕默德六世Oujda治疗的所有组织学确诊的GM病例。提取和分析人口统计学、临床、影像学、组织病理学和治疗数据。根据治疗策略和临床表现评估复发风险。鉴定出45例转基因病例。平均年龄34岁；78% %为多胎，91% %有母乳喂养史。最常见的表现是单侧乳房肿块（84 %），常伴有疼痛（65 %）和炎症征象（47 %）。影像学表现无特异性；68 %的病例超声显示不规则低回声肿块。组织病理学证实所有病例均为非干酪化的小叶中心性肉芽肿。40 %给予皮质类固醇，35 %给予手术，15 %自行消退。复发率为18% %，主要发生在保守治疗或不使用皮质类固醇的患者中。转基因带来了诊断和治疗方面的挑战，特别是在资源有限的情况下。准确的组织病理学诊断对于避免治疗不当至关重要。保守治疗更容易复发，因此需要标准化、个体化治疗。提出了一种指导临床决策的诊断与治疗算法。

{"title":"Granulomatous mastitis: A 5-year single-center case series from North Africa","authors":"Regragui abdelmajide , Marouane boukroute , Hafsa Taheri , Hanane Saadi , Pr Ahmed Mimouni","doi":"10.1016/j.hmedic.2025.100341","DOIUrl":"10.1016/j.hmedic.2025.100341","url":null,"abstract":"<div><div>Granulomatous mastitis (GM) is a rare, benign, chronic inflammatory breast disease that clinically mimics malignancy. Despite increased recognition, GM remains difficult to diagnose and manage due to its nonspecific presentation and unclear etiology. To characterize the clinico-radiological and histopathological spectrum of granulomatous mastitis, identify factors associated with recurrence, and propose a context-specific diagnostic and therapeutic algorithm suitable for low-resource settings. A retrospective analysis of all histologically confirmed GM cases treated at CHU Mohammed VI Oujda from 2019 to 2024 was conducted. Demographic, clinical, imaging, histopathological, and therapeutic data were extracted and analyzed. Recurrence risk was assessed based on management strategies and clinical presentation. Forty-five cases of GM were identified. The mean age was 34 years; 78 % were multiparous and 91 % had a history of breastfeeding. The most frequent presentation was a unilateral breast mass (84 %), often painful (65 %) with inflammatory signs (47 %). Imaging findings were nonspecific; ultrasound showed irregular hypoechoic masses in 68 % of cases. Histopathology confirmed non-caseating lobulocentric granulomas in all cases. Corticosteroids were administered in 40 %, surgery in 35 %, while 15 % had spontaneous resolution. The recurrence rate was 18 %, predominantly among those managed conservatively or without corticosteroids. GM poses diagnostic and therapeutic challenges, particularly in resource-limited contexts. Accurate histopathological diagnosis is essential to avoid mismanagement. Recurrence appears more likely with conservative strategies, highlighting the need for standardized, individualized management. A diagnostic and therapeutic algorithm is proposed to guide clinical decision-making.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100341"},"PeriodicalIF":0.0,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827277","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

Takayasu Arteritis presenting with stroke: A case of lateral medullary syndrome in a 29-year-old female 以中风为表现的高须动脉炎：一例29岁女性的外侧髓质综合征

Medical Reports

Pub Date : 2025-08-06 DOI: 10.1016/j.hmedic.2025.100338

Chowdhury Adnan Sami , Mohammad Ferdous Ur Rahaman , Rafsana , Shohael Mahmud Arafat , Md Nazmul Hasan

Takayasu arteritis (TA) is a chronic large vessel vasculitis that typically targets the major vessels of our body, like the aorta and its branches. Infarction of the lateral medullatermed lateral medullary syndrome, is a rare presenting feature of TA. Our report presents a 29-year-old female who was diagnosed with TA, but her presentation was a rare early manifestation of TA, presenting with lateral medullary syndrome. She came to the hospital with gradually worsening vertigo, partial ptosis, dysphagia, contralateral sensory loss, and gait instability over a period of hours. On initial physical examination, her pulse and blood pressure were missing on the left upper limb. An Imaging test, which showed significant left vertebral artery stenosis and ischemic infarction in the lateral medulla. Further tests like erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were raised, while the autoimmune panel and the coagulation panel results were negative. Diagnosis of TA was made, and treatment was started for TA with steroids and methotrexate and for stroke with aspirin and atorvastatin. Treatment showed significant improvement in symptoms within the two months of strict compliance. This case emphasizes the importance of early diagnosis and thorough treatment in young TA patients who present with rare ischemic events.

高须动脉炎（TA）是一种慢性大血管炎，通常针对我们身体的主要血管，如主动脉及其分支。外侧延髓梗死是一种罕见的TA表现。我们报告了一位29岁的女性，她被诊断为TA，但她的表现是TA的罕见早期表现，表现为外侧髓质综合征。患者入院时出现眩晕、部分上睑下垂、吞咽困难、对侧感觉丧失、步态不稳等症状，持续数小时。在最初的体格检查中，她的左上肢脉搏和血压消失。影像学检查显示明显的左椎动脉狭窄和外侧髓质缺血性梗死。进一步的测试，如红细胞沉降率（ESR）和c反应蛋白（CRP）升高，而自身免疫小组和凝血小组结果为阴性。诊断为TA，并开始用类固醇和甲氨蝶呤治疗TA，用阿司匹林和阿托伐他汀治疗卒中。在严格依从治疗的两个月内，症状明显改善。这个病例强调了早期诊断和彻底治疗出现罕见缺血性事件的年轻TA患者的重要性。

{"title":"Takayasu Arteritis presenting with stroke: A case of lateral medullary syndrome in a 29-year-old female","authors":"Chowdhury Adnan Sami , Mohammad Ferdous Ur Rahaman , Rafsana , Shohael Mahmud Arafat , Md Nazmul Hasan","doi":"10.1016/j.hmedic.2025.100338","DOIUrl":"10.1016/j.hmedic.2025.100338","url":null,"abstract":"<div><div>Takayasu arteritis (TA) is a chronic large vessel vasculitis that typically targets the major vessels of our body, like the aorta and its branches. Infarction of the lateral medullatermed lateral medullary syndrome, is a rare presenting feature of TA. Our report presents a 29-year-old female who was diagnosed with TA, but her presentation was a rare early manifestation of TA, presenting with lateral medullary syndrome. She came to the hospital with gradually worsening vertigo, partial ptosis, dysphagia, contralateral sensory loss, and gait instability over a period of hours. On initial physical examination, her pulse and blood pressure were missing on the left upper limb. An Imaging test, which showed significant left vertebral artery stenosis and ischemic infarction in the lateral medulla. Further tests like erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were raised, while the autoimmune panel and the coagulation panel results were negative. Diagnosis of TA was made, and treatment was started for TA with steroids and methotrexate and for stroke with aspirin and atorvastatin. Treatment showed significant improvement in symptoms within the two months of strict compliance. This case emphasizes the importance of early diagnosis and thorough treatment in young TA patients who present with rare ischemic events.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100338"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828957","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

Severe agranulocytosis as the first manifestation of secondary Sjögren’s syndrome masked by iatrogenic Cushing’s: A diagnostic challenge 严重粒细胞缺乏症是医源性库欣综合征掩盖的继发性Sjögren综合征的第一表现：一个诊断挑战

Medical Reports

Pub Date : 2025-08-05 DOI: 10.1016/j.hmedic.2025.100319

Sofia Uribe-Toscano , Alberto Gudiño-Ochoa

Agranulocytosis is a rare but potentially fatal hematologic condition characterized by a marked reduction in absolute neutrophil count (ANC

< 100

cells//

μ

L). While most cases are drug-induced, autoimmune etiologies must be considered in refractory or atypical presentations. We report the case of a 54-year-old male with untreated rheumatoid arthritis who presented with persistent fever and was found to have severe agranulocytosis (ANC = 20 cells//

μ

L) and thrombocytopenia, without an apparent infectious focus. The patient had a history of chronic unsupervised intake of Ardosons (a combination of betamethasone, indomethacin, and methocarbamol), and physical examination revealed cushingoid features suggestive of iatrogenic Cushing’s syndrome. Initial management with empirical broad-spectrum antibiotics and granulocyte-colony stimulating factor failed to improve the cytopenias. Immunologic testing showed high-titer ANA with mixed patterns, strong anti-SSA positivity, and elevated C-reactive protein. The erythrocyte sedimentation rate was undetectable, likely due to steroid suppression. Systemic lupus erythematosus was ruled out based on ACR/EULAR 2019 criteria. A diagnosis of Secondary Sjögren’s syndrome , likely secondary to untreated rheumatoid arthritis, was established by the rheumatology team. The patient responded favorably to high-dose intravenous methylprednisolone followed by immunomodulatory therapy. The patient responded favorably to high-dose intravenous methylprednisolone followed by immunomodulatory therapy. This case highlights the importance of considering autoimmune causes in the differential diagnosis of cytopenias, particularly in patients with underlying connective tissue diseases and chronic glucocorticoid exposure. Functional autoimmune syndromes may present atypically and require high clinical suspicion for timely diagnosis and treatment.

粒细胞缺乏症是一种罕见但潜在致命的血液学疾病，其特征是绝对中性粒细胞计数（ANC <；100细胞//μL）显著减少。虽然大多数病例是药物引起的，但在难治性或非典型表现中必须考虑自身免疫性病因。我们报告一例54岁男性，未经治疗的类风湿性关节炎，表现为持续发热，发现有严重的粒细胞缺乏症（ANC = 20细胞//μL）和血小板减少症，没有明显的感染灶。患者有长期无监护服用阿多松（倍他米松、吲哚美辛和甲氨基酚联合用药）的病史，体格检查显示库欣样特征，提示医源性库欣综合征。最初使用经验性广谱抗生素和粒细胞集落刺激因子未能改善细胞减少症。免疫检测显示高滴度ANA混合模式，抗ssa阳性强，c反应蛋白升高。红细胞沉降率检测不到，可能是由于类固醇抑制。根据ACR/EULAR 2019标准排除系统性红斑狼疮。继发性Sjögren综合征的诊断，可能继发于未经治疗的类风湿关节炎，由风湿病学小组确定。患者对高剂量静脉注射甲基强的松龙和免疫调节治疗反应良好。患者对高剂量静脉注射甲基强的松龙和免疫调节治疗反应良好。本病例强调了在鉴别诊断细胞减少症时考虑自身免疫原因的重要性，特别是在有潜在结缔组织疾病和慢性糖皮质激素暴露的患者中。功能性自身免疫综合征可能表现为非典型性，需要高度的临床怀疑才能及时诊断和治疗。

{"title":"Severe agranulocytosis as the first manifestation of secondary Sjögren’s syndrome masked by iatrogenic Cushing’s: A diagnostic challenge","authors":"Sofia Uribe-Toscano , Alberto Gudiño-Ochoa","doi":"10.1016/j.hmedic.2025.100319","DOIUrl":"10.1016/j.hmedic.2025.100319","url":null,"abstract":"<div><div>Agranulocytosis is a rare but potentially fatal hematologic condition characterized by a marked reduction in absolute neutrophil count (ANC <span><math><mrow><mo><</mo><mn>100</mn></mrow></math></span> cells//<span><math><mi>μ</mi></math></span>L). While most cases are drug-induced, autoimmune etiologies must be considered in refractory or atypical presentations. We report the case of a 54-year-old male with untreated rheumatoid arthritis who presented with persistent fever and was found to have severe agranulocytosis (ANC = 20 cells//<span><math><mi>μ</mi></math></span>L) and thrombocytopenia, without an apparent infectious focus. The patient had a history of chronic unsupervised intake of Ardosons (a combination of betamethasone, indomethacin, and methocarbamol), and physical examination revealed cushingoid features suggestive of iatrogenic Cushing’s syndrome. Initial management with empirical broad-spectrum antibiotics and granulocyte-colony stimulating factor failed to improve the cytopenias. Immunologic testing showed high-titer ANA with mixed patterns, strong anti-SSA positivity, and elevated C-reactive protein. The erythrocyte sedimentation rate was undetectable, likely due to steroid suppression. Systemic lupus erythematosus was ruled out based on ACR/EULAR 2019 criteria. A diagnosis of Secondary Sjögren’s syndrome , likely secondary to untreated rheumatoid arthritis, was established by the rheumatology team. The patient responded favorably to high-dose intravenous methylprednisolone followed by immunomodulatory therapy. The patient responded favorably to high-dose intravenous methylprednisolone followed by immunomodulatory therapy. This case highlights the importance of considering autoimmune causes in the differential diagnosis of cytopenias, particularly in patients with underlying connective tissue diseases and chronic glucocorticoid exposure. Functional autoimmune syndromes may present atypically and require high clinical suspicion for timely diagnosis and treatment.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100319"},"PeriodicalIF":0.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827478","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