Rare disease

30 Jul 2026 : Case report
Management of Shamblin Type III Carotid Body Tumor With Preoperative Embolization, Surgical Resection, and Rescue Endovascular Stroke Treatment: A Case Report
Michal S. Proczka
, Piotr Kaszczewski
, Michał M. Sajdek, Amelia Maciąg, Rafał Maciąg, Ireneusz Nawrot
, Zbigniew Gałązka
DOI: 10.12659/AJCR.951348
Am J Case Rep 2026; 27:e951348
433 455 0

30 Jul 2026 : Case report
Management of Shamblin Type III Carotid Body Tumor With Preoperative Embolization, Surgical Resection, and Rescue Endovascular Stroke Treatment: A Case Report
Michal S. Proczka
, Piotr Kaszczewski
, Michał M. Sajdek, Amelia Maciąg, Rafał Maciąg, Ireneusz Nawrot
, Zbigniew Gałązka
DOI: 10.12659/AJCR.951348
Am J Case Rep 2026; 27:e951348
433 455 0

11 Sep 2026 : Case report
Appendico-Sigmoid Fistula as a Rare Complication of Chronic or Recurrent Appendicitis: A Case Report
Shashi Kush, Suvendu Sekhar Jena
, Amitabh Yadav, Samiran Nundy
DOI: 10.12659/AJCR.952691
Am J Case Rep 2026; 27:e952691
207 92 0

11 Sep 2026 : Case report
Appendico-Sigmoid Fistula as a Rare Complication of Chronic or Recurrent Appendicitis: A Case Report
Shashi Kush, Suvendu Sekhar Jena
, Amitabh Yadav, Samiran Nundy
DOI: 10.12659/AJCR.952691
Am J Case Rep 2026; 27:e952691
207 92 0

10 Sep 2026 : Case report
Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up
Katarzyna Muras-Szwedziak
, Jacek Kasznicki
, Olga Wegner
, Maciej Wójcik
, Olga Wojtyczka
DOI: 10.12659/AJCR.952793
Am J Case Rep 2026; 27:e952793
246 126 0

10 Sep 2026 : Case report
Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up
Katarzyna Muras-Szwedziak
, Jacek Kasznicki
, Olga Wegner
, Maciej Wójcik
, Olga Wojtyczka
DOI: 10.12659/AJCR.952793
Am J Case Rep 2026; 27:e952793
246 126 0

09 Sep 2026 : Case report
Cone-Beam Computed Tomography Imaging of Primary Non-Hodgkin Lymphoma of the Jaws: A 6-Case Series
Emmanouil Chatzipetros
, Konstantina-Eleni Alexiou
, Kostas Tsiklakis, Christos Angelopoulos
DOI: 10.12659/AJCR.954314
Am J Case Rep 2026; 27:e954314
267 95 0

09 Sep 2026 : Case report
Cone-Beam Computed Tomography Imaging of Primary Non-Hodgkin Lymphoma of the Jaws: A 6-Case Series
Emmanouil Chatzipetros
, Konstantina-Eleni Alexiou
, Kostas Tsiklakis, Christos Angelopoulos
DOI: 10.12659/AJCR.954314
Am J Case Rep 2026; 27:e954314
267 95 0

09 Sep 2026 : Case report
Multidisciplinary Collaborative Treatment of Mediastinal Castleman Disease: A Case Report
DOI: 10.12659/AJCR.953364
Am J Case Rep 2026; 27:e953364
308 110 0

09 Sep 2026 : Case report
Multidisciplinary Collaborative Treatment of Mediastinal Castleman Disease: A Case Report
DOI: 10.12659/AJCR.953364
Am J Case Rep 2026; 27:e953364
308 110 0

21 Jul 2026 : Case report
Tuberculosis in the Context of Idiopathic CD4 Lymphocytopenia: A Case Report and Literature Review
Sara M. Alwarthan
, Abir Hamad Alsaid, Ashraf Ezzat Abdelsamad Attia
, Ahmed Alsahlawi
, Shahad Ali AlZahrani
, Khalid Ghazai Alotaibi
, Hassan Naasr Al Dhneem
, Marwan Jabr Alwazzeh
DOI: 10.12659/AJCR.953101
Am J Case Rep 2026; 27:e953101
488 694 0

21 Jul 2026 : Case report
Tuberculosis in the Context of Idiopathic CD4 Lymphocytopenia: A Case Report and Literature Review
Sara M. Alwarthan
, Abir Hamad Alsaid, Ashraf Ezzat Abdelsamad Attia
, Ahmed Alsahlawi
, Shahad Ali AlZahrani
, Khalid Ghazai Alotaibi
, Hassan Naasr Al Dhneem
, Marwan Jabr Alwazzeh
DOI: 10.12659/AJCR.953101
Am J Case Rep 2026; 27:e953101
488 694 0

08 Sep 2026 : Case report
Vogt-Koyanagi-Harada Disease Presenting With Progressive Visual Loss and Multisystem Involvement: A Case Report
Samah A. Elshweikh
, Atheer G. Almutairi, Husna Irfan Thalib, Reema Waleed Alolayan, Mona M. Aly
DOI: 10.12659/AJCR.952534
Am J Case Rep 2026; 27:e952534
431 99 0

08 Sep 2026 : Case report
Vogt-Koyanagi-Harada Disease Presenting With Progressive Visual Loss and Multisystem Involvement: A Case Report
Samah A. Elshweikh
, Atheer G. Almutairi, Husna Irfan Thalib, Reema Waleed Alolayan, Mona M. Aly
DOI: 10.12659/AJCR.952534
Am J Case Rep 2026; 27:e952534
431 99 0

05 Sep 2026 : Case report
Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms
Abdullah Al Eisa, Atheer Humoud Aldayhani
DOI: 10.12659/AJCR.953067
Am J Case Rep 2026; 27:e953067
545 327 0

05 Sep 2026 : Case report
Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms
Abdullah Al Eisa, Atheer Humoud Aldayhani
DOI: 10.12659/AJCR.953067
Am J Case Rep 2026; 27:e953067
545 327 0

17 Jul 2026 : Case report
Acquired Hemophilia A Revealing Occult Splenic Marginal Zone Lymphoma
Haripriya Susmitha Brahmanapalle, Alka Arora
DOI: 10.12659/AJCR.953683
Am J Case Rep 2026; 27:e953683
370 528 0

17 Jul 2026 : Case report
Acquired Hemophilia A Revealing Occult Splenic Marginal Zone Lymphoma
Haripriya Susmitha Brahmanapalle, Alka Arora
DOI: 10.12659/AJCR.953683
Am J Case Rep 2026; 27:e953683
370 528 0

16 Jul 2026 : Case report
Heyde Syndrome Complicated by Pulmonary Embolism Before Transcatheter Aortic Valve Replacement: A Clinical Dilemma Between Bleeding and Thrombosis
Mingying Cao, Lingli Zhang, Ying Ren, Gejun Zhang
DOI: 10.12659/AJCR.953608
Am J Case Rep 2026; 27:e953608
472 557 0

16 Jul 2026 : Case report
Heyde Syndrome Complicated by Pulmonary Embolism Before Transcatheter Aortic Valve Replacement: A Clinical Dilemma Between Bleeding and Thrombosis
Mingying Cao, Lingli Zhang, Ying Ren, Gejun Zhang
DOI: 10.12659/AJCR.953608
Am J Case Rep 2026; 27:e953608
472 557 0

14 Jul 2026 : Case report
Single-Dose Nivolumab as a Trigger of Myocarditis, Myositis, and Myasthenia Gravis Overlap Syndrome With Late Cardiac Death Despite Initial Recovery: A Case Report
Deepika Beereddy, Durga Naga Malleswara Rao Jonnalagadda, Shobha Mandal, Jieyu Zhang
DOI: 10.12659/AJCR.953173
Am J Case Rep 2026; 27:e953173
546 858 0

14 Jul 2026 : Case report
Single-Dose Nivolumab as a Trigger of Myocarditis, Myositis, and Myasthenia Gravis Overlap Syndrome With Late Cardiac Death Despite Initial Recovery: A Case Report
Deepika Beereddy, Durga Naga Malleswara Rao Jonnalagadda, Shobha Mandal, Jieyu Zhang
DOI: 10.12659/AJCR.953173
Am J Case Rep 2026; 27:e953173
546 858 0

03 Sep 2026 : Case report
A Near-Fatal Leak: Acute Cardiac Tamponade From Contrast Extravasation via a Thrombosed Port-a-Cath
Hamza Janjua, Monica Wilbekin, Hira Janjua, Kushal Das, Zulfiqar Qutrio Baloch
, Rehan Ishaque
DOI: 10.12659/AJCR.953197
Am J Case Rep 2026; 27:e953197
388 295 0

03 Sep 2026 : Case report
A Near-Fatal Leak: Acute Cardiac Tamponade From Contrast Extravasation via a Thrombosed Port-a-Cath
Hamza Janjua, Monica Wilbekin, Hira Janjua, Kushal Das, Zulfiqar Qutrio Baloch
, Rehan Ishaque
DOI: 10.12659/AJCR.953197
Am J Case Rep 2026; 27:e953197
388 295 0

03 Sep 2026 : Case report
When Grief Strains the Heart: A Case of Reverse Takotsubo Cardiomyopathy Triggered by Mourning and Respiratory Failure
Peter Cwalina, Ibrahim Rahmatullah, Ayesha Samad, Adam S. Budzikowski
DOI: 10.12659/AJCR.952896
Am J Case Rep 2026; 27:e952896
474 326 0

03 Sep 2026 : Case report
When Grief Strains the Heart: A Case of Reverse Takotsubo Cardiomyopathy Triggered by Mourning and Respiratory Failure
Peter Cwalina, Ibrahim Rahmatullah, Ayesha Samad, Adam S. Budzikowski
DOI: 10.12659/AJCR.952896
Am J Case Rep 2026; 27:e952896
474 326 0

31 Aug 2026 : Case report
Radiation Associated Undifferentiated Pleomorphic Sarcoma of the Neck 2 Decades After External Beam Radiation for Medullary Thyroid Carcinoma: A Case Report and Literature Review
Tanya Odisho, Sedighe Esmaeilzade
, Alexander Laskaris
, Sungmi Jung, James Man Git Tsui
, Sinziana Dumitra, Elliot Mitmaker
DOI: 10.12659/AJCR.953580
Am J Case Rep 2026; 27:e953580
449 387 0

31 Aug 2026 : Case report
Radiation Associated Undifferentiated Pleomorphic Sarcoma of the Neck 2 Decades After External Beam Radiation for Medullary Thyroid Carcinoma: A Case Report and Literature Review
Tanya Odisho, Sedighe Esmaeilzade
, Alexander Laskaris
, Sungmi Jung, James Man Git Tsui
, Sinziana Dumitra, Elliot Mitmaker
DOI: 10.12659/AJCR.953580
Am J Case Rep 2026; 27:e953580
449 387 0

10 Jul 2026 : Case report
Thoracolaparoscopic Esophagectomy for Severe Post-Corrosive Esophageal Stricture in a Young Adult: Implications for Minimally Invasive Surgical Practice
Kuanysh Kanatov
, Adil Shokebaev
, Bolatbek Baimakhanov
, Shakir Zhurayev
, Gulziya Ismailova
, Nurmakhan Imammyrzayev
, Nurbol Orynbassar
, Nazar Tolkyn
, Khozybek Kazakhstan
, Utkalbayev Garifulla
DOI: 10.12659/AJCR.953371
Am J Case Rep 2026; 27:e953371
410 624 0

10 Jul 2026 : Case report
Thoracolaparoscopic Esophagectomy for Severe Post-Corrosive Esophageal Stricture in a Young Adult: Implications for Minimally Invasive Surgical Practice
Kuanysh Kanatov
, Adil Shokebaev
, Bolatbek Baimakhanov
, Shakir Zhurayev
, Gulziya Ismailova
, Nurmakhan Imammyrzayev
, Nurbol Orynbassar
, Nazar Tolkyn
, Khozybek Kazakhstan
, Utkalbayev Garifulla
DOI: 10.12659/AJCR.953371
Am J Case Rep 2026; 27:e953371
410 624 0

28 Aug 2026 : Case report
Fusarium solani Skin and Soft Tissue Infection in a Patient With Chronic Sclerosing Skin Graft-vs-Host Disease: A Case Report
Nathan J. Parker
, Rod Quilitz
, Hanaa I. Hussain, Jamie Caracciolo, Olga Klinkova
DOI: 10.12659/AJCR.953522
Am J Case Rep 2026; 27:e953522
494 445 0

28 Aug 2026 : Case report
Fusarium solani Skin and Soft Tissue Infection in a Patient With Chronic Sclerosing Skin Graft-vs-Host Disease: A Case Report
Nathan J. Parker
, Rod Quilitz
, Hanaa I. Hussain, Jamie Caracciolo, Olga Klinkova
DOI: 10.12659/AJCR.953522
Am J Case Rep 2026; 27:e953522
494 445 0

08 Jul 2026 : Case report
A 31-Year-Old Woman With Liver Cirrhosis Due to Wilson Disease and the Double Impact of Active Tuberculosis and Anti-Tuberculosis Therapy Resulting in Acute Liver Injury
Petar Trifonov, Sonya Stefkova Dragneva, Donika K. Todovichin, Ivana Tihomirova Kitaeva, Rosen K. Nikolov
DOI: 10.12659/AJCR.953050
Am J Case Rep 2026; 27:e953050
529 684 0

08 Jul 2026 : Case report
A 31-Year-Old Woman With Liver Cirrhosis Due to Wilson Disease and the Double Impact of Active Tuberculosis and Anti-Tuberculosis Therapy Resulting in Acute Liver Injury
Petar Trifonov, Sonya Stefkova Dragneva, Donika K. Todovichin, Ivana Tihomirova Kitaeva, Rosen K. Nikolov
DOI: 10.12659/AJCR.953050
Am J Case Rep 2026; 27:e953050
529 684 0

26 Aug 2026 : Case report
Atypical Presentation of Hereditary Hemorrhagic Telangiectasia Without Recurrent Epistaxis Leading to Delayed Diagnosis
Daniyaal Syed
, Farah Khan, Numair Khan
DOI: 10.12659/AJCR.953158
Am J Case Rep 2026; 27:e953158
617 456 0

26 Aug 2026 : Case report
Atypical Presentation of Hereditary Hemorrhagic Telangiectasia Without Recurrent Epistaxis Leading to Delayed Diagnosis
Daniyaal Syed
, Farah Khan, Numair Khan
DOI: 10.12659/AJCR.953158
Am J Case Rep 2026; 27:e953158
617 456 0

25 Aug 2026 : Case report
Canine-Associated Capnocytophaga canimorsus Bacteremia in an Older Adult Without Classical Immunosuppressive Risk Factors
Ingrid L. Hirte
, Jack W. McHugh
, Nathaniel E. Miller
DOI: 10.12659/AJCR.952980
Am J Case Rep 2026; 27:e952980
459 527 0

25 Aug 2026 : Case report
Canine-Associated Capnocytophaga canimorsus Bacteremia in an Older Adult Without Classical Immunosuppressive Risk Factors
Ingrid L. Hirte
, Jack W. McHugh
, Nathaniel E. Miller
DOI: 10.12659/AJCR.952980
Am J Case Rep 2026; 27:e952980
459 527 0

24 Aug 2026 : Case report
Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report
Ryan Haryana Darajatun, Aditiyono, Siti Salima
DOI: 10.12659/AJCR.952834
Am J Case Rep 2026; 27:e952834
411 333 0

24 Aug 2026 : Case report
Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report
Ryan Haryana Darajatun, Aditiyono, Siti Salima
DOI: 10.12659/AJCR.952834
Am J Case Rep 2026; 27:e952834
411 333 0

24 Aug 2026 : Case report
Refractory Hyperammonemic Encephalopathy as a Paraneoplastic Presentation of Fibrolamellar Hepatocellular Carcinoma: A Case Report
Ritwik Dey
, Harshitha Popuri, Virali Gulla, Yagnapriya Chirrareddy
, Satyapriya Paritala, Daniel Bustamante
, Javier Corral
DOI: 10.12659/AJCR.952819
Am J Case Rep 2026; 27:e952819
556 470 0

24 Aug 2026 : Case report
Refractory Hyperammonemic Encephalopathy as a Paraneoplastic Presentation of Fibrolamellar Hepatocellular Carcinoma: A Case Report
Ritwik Dey
, Harshitha Popuri, Virali Gulla, Yagnapriya Chirrareddy
, Satyapriya Paritala, Daniel Bustamante
, Javier Corral
DOI: 10.12659/AJCR.952819
Am J Case Rep 2026; 27:e952819
556 470 0

23 Aug 2026 : Case report
Voriconazole-Induced Pancreatitis Despite Therapeutic Trough Concentrations During Treatment of Disseminated Fusariosis in a Hospitalized Patient
Brunelda Aristilde, Marta E. Berguido de la Guardia
, Kin F. Fentie, Michael Evans, Libardo Rueda Prada
DOI: 10.12659/AJCR.953733
Am J Case Rep 2026; 27:e953733
607 618 0

23 Aug 2026 : Case report
Voriconazole-Induced Pancreatitis Despite Therapeutic Trough Concentrations During Treatment of Disseminated Fusariosis in a Hospitalized Patient
Brunelda Aristilde, Marta E. Berguido de la Guardia
, Kin F. Fentie, Michael Evans, Libardo Rueda Prada
DOI: 10.12659/AJCR.953733
Am J Case Rep 2026; 27:e953733
607 618 0

22 Aug 2026 : Case report
Werner Syndrome Masquerading as Type 2 Diabetes: A Diagnostic Odyssey Leading to Precision Medicine
Aibibai Yusufu, Asiguli Adili, Sheng Jiang, Yihan Wei, Hailin Ma
DOI: 10.12659/AJCR.952718
Am J Case Rep 2026; 27:e952718
562 465 0

22 Aug 2026 : Case report
Werner Syndrome Masquerading as Type 2 Diabetes: A Diagnostic Odyssey Leading to Precision Medicine
Aibibai Yusufu, Asiguli Adili, Sheng Jiang, Yihan Wei, Hailin Ma
DOI: 10.12659/AJCR.952718
Am J Case Rep 2026; 27:e952718
562 465 0

21 Aug 2026 : Case report
Histiocytic Sarcoma With Striking Clinical Improvement
Nur Farhanah
, Jessica Novia Hadiyanto
, Erlieza Roosdhania
, Dhesi Ariembi
, Enny Puji Astuti, Subiyakto Bustomi
, Eny Dyah Kurniawati
, Hermawan Istiadi
, Budi Setiawan
DOI: 10.12659/AJCR.952214
Am J Case Rep 2026; 27:e952214
541 540 0

21 Aug 2026 : Case report
Histiocytic Sarcoma With Striking Clinical Improvement
Nur Farhanah
, Jessica Novia Hadiyanto
, Erlieza Roosdhania
, Dhesi Ariembi
, Enny Puji Astuti, Subiyakto Bustomi
, Eny Dyah Kurniawati
, Hermawan Istiadi
, Budi Setiawan
DOI: 10.12659/AJCR.952214
Am J Case Rep 2026; 27:e952214
541 540 0

21 Aug 2026 : Case report
Left Ventricular Summit Ventricular Tachycardia Identified by Electrocardiographic Pattern Recognition and Managed With Radiofrequency Ablation
Mariana Goes Moreira, Carina Abigail Hardy, Leandro Menezes Alves da Costa, Ana Carolina Menezes Borsoi, Rodrigo Goldenstein Schainberg, Anna Beatriz Gori Montes, Rafael Amorim Belo Nunes, Thiago Midlej Brito, Daniel Castanho Genta Pereira, Roger Pereira de Oliveira
, Thiago Luis Scudeler
DOI: 10.12659/AJCR.953321
Am J Case Rep 2026; 27:e953321
505 471 0

21 Aug 2026 : Case report
Left Ventricular Summit Ventricular Tachycardia Identified by Electrocardiographic Pattern Recognition and Managed With Radiofrequency Ablation
Mariana Goes Moreira, Carina Abigail Hardy, Leandro Menezes Alves da Costa, Ana Carolina Menezes Borsoi, Rodrigo Goldenstein Schainberg, Anna Beatriz Gori Montes, Rafael Amorim Belo Nunes, Thiago Midlej Brito, Daniel Castanho Genta Pereira, Roger Pereira de Oliveira
, Thiago Luis Scudeler
DOI: 10.12659/AJCR.953321
Am J Case Rep 2026; 27:e953321
505 471 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953653
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952921
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953836
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953506
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