Rare disease

07 May 2026 : Case report
Caught in Transit: Mobile Right Atrial Thrombus in Intermediate-High-Risk Pulmonary Embolism Treated With Half-Dose Alteplase
Wael Gomaa, Khaled Sewify, Eslam Elsayed Abdelshafey, Abdulaziz Alsaher, Ragheb Elmessery, Fadah Alanazi, Adel Azmy, Khalid Al Faraidy
DOI: 10.12659/AJCR.952646
Am J Case Rep 2026; 27:e952646
727 1,120 0

07 May 2026 : Case report
Caught in Transit: Mobile Right Atrial Thrombus in Intermediate-High-Risk Pulmonary Embolism Treated With Half-Dose Alteplase
Wael Gomaa, Khaled Sewify, Eslam Elsayed Abdelshafey, Abdulaziz Alsaher, Ragheb Elmessery, Fadah Alanazi, Adel Azmy, Khalid Al Faraidy
DOI: 10.12659/AJCR.952646
Am J Case Rep 2026; 27:e952646
727 1120 0

05 May 2026 : Case report
Congenital Nasal Vestibular Stenosis in an 11-Year-Old: Case Report, Surgical Management, and a Proposal for Refined Nomenclature
Jingjing Guo, Shenghao Niu, Zetao Qian, Kai Ji, Hanghang Zhou, Xiaorong Lu, Xuan-Fen Zhang
DOI: 10.12659/AJCR.951330
Am J Case Rep 2026; 27:e951330
508 1,236 0

05 May 2026 : Case report
Congenital Nasal Vestibular Stenosis in an 11-Year-Old: Case Report, Surgical Management, and a Proposal for Refined Nomenclature
Jingjing Guo, Shenghao Niu, Zetao Qian, Kai Ji, Hanghang Zhou, Xiaorong Lu, Xuan-Fen Zhang
DOI: 10.12659/AJCR.951330
Am J Case Rep 2026; 27:e951330
508 1236 0

03 May 2026 : Case report
Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease
Nguyen Thi Tuong Vi, Nguyen Huu Thanh, Dong Thi Bien, Nguyen Hong Quan
DOI: 10.12659/AJCR.951080
Am J Case Rep 2026; 27:e951080
649 1,093 0

03 May 2026 : Case report
Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease
Nguyen Thi Tuong Vi, Nguyen Huu Thanh, Dong Thi Bien, Nguyen Hong Quan
DOI: 10.12659/AJCR.951080
Am J Case Rep 2026; 27:e951080
649 1093 0

01 May 2026 : Case report
Retinal Granuloma Progression After Scleral Buckling in Ocular Toxocariasis: A Case Report
Xiaolan Liu, Luyun Liang
, Liyan Ye, Yiqin Duan
DOI: 10.12659/AJCR.950844
Am J Case Rep 2026; 27:e950844
565 943 0

01 May 2026 : Case report
Retinal Granuloma Progression After Scleral Buckling in Ocular Toxocariasis: A Case Report
Xiaolan Liu, Luyun Liang
, Liyan Ye, Yiqin Duan
DOI: 10.12659/AJCR.950844
Am J Case Rep 2026; 27:e950844
565 943 0

29 Apr 2026 : Case report
A Rare Case of Stevens-Johnson Syndrome in a Young Patient Presenting With Odynophagia Following Antibiotic Use
John Tomasini, Joanna Sajdlowska
, Gregory Crisafulli
, Hillel Ephros
DOI: 10.12659/AJCR.951823
Am J Case Rep 2026; 27:e951823
721 1,165 0

29 Apr 2026 : Case report
A Rare Case of Stevens-Johnson Syndrome in a Young Patient Presenting With Odynophagia Following Antibiotic Use
John Tomasini, Joanna Sajdlowska
, Gregory Crisafulli
, Hillel Ephros
DOI: 10.12659/AJCR.951823
Am J Case Rep 2026; 27:e951823
721 1165 0

28 Apr 2026 : Case report
A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation
Noora Ebrahim AlHadi
, Hessa Mohammed Albuainain, Raafat Hammad Jadah
DOI: 10.12659/AJCR.951892
Am J Case Rep 2026; 27:e951892
628 975 0

28 Apr 2026 : Case report
A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation
Noora Ebrahim AlHadi
, Hessa Mohammed Albuainain, Raafat Hammad Jadah
DOI: 10.12659/AJCR.951892
Am J Case Rep 2026; 27:e951892
628 975 0

27 Apr 2026 : Case report
Gastric Sarcoidosis Masquerading as Gastroesophageal Reflux Disease: A Case of Diagnostic Uncertainty and Conservative Management
Olanrewaju Adeniran
, Abdullahi Sulaiman, Megan Willard
DOI: 10.12659/AJCR.951952
Am J Case Rep 2026; 27:e951952
907 1,692 0

27 Apr 2026 : Case report
Gastric Sarcoidosis Masquerading as Gastroesophageal Reflux Disease: A Case of Diagnostic Uncertainty and Conservative Management
Olanrewaju Adeniran
, Abdullahi Sulaiman, Megan Willard
DOI: 10.12659/AJCR.951952
Am J Case Rep 2026; 27:e951952
907 1692 0

26 Apr 2026 : Case report
Neuroendocrine Carcinoma of the Submandibular Gland in an Older Adult: A Rare Case and Literature Review
Rossana Moi, Ingrid Raponi
, Alessandra Perfetti, Silvana Giacinti, Michele Battista, Piero Luigi Alò, Andrea Marzetti
DOI: 10.12659/AJCR.951324
Am J Case Rep 2026; 27:e951324
859 1,111 0

26 Apr 2026 : Case report
Neuroendocrine Carcinoma of the Submandibular Gland in an Older Adult: A Rare Case and Literature Review
Rossana Moi, Ingrid Raponi
, Alessandra Perfetti, Silvana Giacinti, Michele Battista, Piero Luigi Alò, Andrea Marzetti
DOI: 10.12659/AJCR.951324
Am J Case Rep 2026; 27:e951324
859 1111 0

21 Apr 2026 : Case report
Cronkhite-Canada Syndrome: A Diagnostic Challenge and Management With Vedolizumab
Aida Nasirishargh
, Robert Luke Pecha, Ashna Aggarwal, Kurt Schaberg, Dongguang Wei, Eric J. Mao
DOI: 10.12659/AJCR.950621
Am J Case Rep 2026; 27:e950621
1,028 2,434 0

21 Apr 2026 : Case report
Cronkhite-Canada Syndrome: A Diagnostic Challenge and Management With Vedolizumab
Aida Nasirishargh
, Robert Luke Pecha, Ashna Aggarwal, Kurt Schaberg, Dongguang Wei, Eric J. Mao
DOI: 10.12659/AJCR.950621
Am J Case Rep 2026; 27:e950621
1028 2434 0

22 Apr 2026 : Case report
Diagnostic Approaches to Adult Cystic Nephroma: Insights From Two Cases
Madalina Bosoteanu, Raluca Ioana Vodă, Cristian Ionut Orășanu
, Luana-Andreea Nurla, Nicolae Ciufu
DOI: 10.12659/AJCR.950808
Am J Case Rep 2026; 27:e950808
826 1,713 0

22 Apr 2026 : Case report
Diagnostic Approaches to Adult Cystic Nephroma: Insights From Two Cases
Madalina Bosoteanu, Raluca Ioana Vodă, Cristian Ionut Orășanu
, Luana-Andreea Nurla, Nicolae Ciufu
DOI: 10.12659/AJCR.950808
Am J Case Rep 2026; 27:e950808
826 1713 0

17 Apr 2026 : Case report
Cocaine–Levamisole-Associated Vasculopathy Mimicking ANCA-Associated Vasculitis and Presenting With Pulmonary–Renal Syndrome Requiring VV-ECMO Support
DOI: 10.12659/AJCR.951159
Am J Case Rep 2026; 27:e951159
604 1,155 0

17 Apr 2026 : Case report
Cocaine–Levamisole-Associated Vasculopathy Mimicking ANCA-Associated Vasculitis and Presenting With Pulmonary–Renal Syndrome Requiring VV-ECMO Support
DOI: 10.12659/AJCR.951159
Am J Case Rep 2026; 27:e951159
604 1155 0

14 Apr 2026 : Case report
Hemoglobin San Diego: A Case Report and Review of the Literature
Matthew L. Repp, Brandon McMahon
DOI: 10.12659/AJCR.951364
Am J Case Rep 2026; 27:e951364
550 1,050 0

14 Apr 2026 : Case report
Hemoglobin San Diego: A Case Report and Review of the Literature
Matthew L. Repp, Brandon McMahon
DOI: 10.12659/AJCR.951364
Am J Case Rep 2026; 27:e951364
550 1050 0

21 Apr 2026 : Case report
Severe Optic Neuroretinitis and Vitreous Hemorrhage in Pediatric Cat-Scratch Disease: A Case With Irreversible Visual Impairment
Satoko Koga, Kie Iida
, Hiromi Onouchi, Masayuki Washizawa, Toshiaki Goseki
DOI: 10.12659/AJCR.952592
Am J Case Rep 2026; 27:e952592
708 1,253 0

21 Apr 2026 : Case report
Severe Optic Neuroretinitis and Vitreous Hemorrhage in Pediatric Cat-Scratch Disease: A Case With Irreversible Visual Impairment
Satoko Koga, Kie Iida
, Hiromi Onouchi, Masayuki Washizawa, Toshiaki Goseki
DOI: 10.12659/AJCR.952592
Am J Case Rep 2026; 27:e952592
708 1253 0

15 Apr 2026 : Case report
Left-Sided Gallbladder in the Absence of Situs Inversus: Case Report and Surgical Implications
Felipe Fernandes Teles, Gabriela Karabachian Tebar, Bruno Henrique Pieruci Florenzano, Victor Hugo Fernandes Teles, Leandro Miranda Trama, Marcelo Augusto A. F. F. Ribeiro Junior
DOI: 10.12659/AJCR.950307
Am J Case Rep 2026; 27:e950307
522 787 0

15 Apr 2026 : Case report
Left-Sided Gallbladder in the Absence of Situs Inversus: Case Report and Surgical Implications
Felipe Fernandes Teles, Gabriela Karabachian Tebar, Bruno Henrique Pieruci Florenzano, Victor Hugo Fernandes Teles, Leandro Miranda Trama, Marcelo Augusto A. F. F. Ribeiro Junior
DOI: 10.12659/AJCR.950307
Am J Case Rep 2026; 27:e950307
522 787 0

19 Apr 2026 : Case report
Intramuscular Cavernous Hemangioma of the Latissimus Dorsi Muscle: A Rare Presentation of Chronic Musculoskeletal Pain – Case Report
Zhuang-Ying Lee, Terence Ming Kwan Chin, Kin-Fah Chin, Julia Munchar Jajuli, Keh Oon Ong
DOI: 10.12659/AJCR.952352
Am J Case Rep 2026; 27:e952352
515 973 0

19 Apr 2026 : Case report
Intramuscular Cavernous Hemangioma of the Latissimus Dorsi Muscle: A Rare Presentation of Chronic Musculoskeletal Pain – Case Report
Zhuang-Ying Lee, Terence Ming Kwan Chin, Kin-Fah Chin, Julia Munchar Jajuli, Keh Oon Ong
DOI: 10.12659/AJCR.952352
Am J Case Rep 2026; 27:e952352
515 973 0

12 Apr 2026 : Case report
Isolated Mental Nerve Neuropathy as the First Clinical Sign of Nodal Marginal Zone Lymphoma: A Diagnostic Challenge
Anusha Abdullah, Philipp Poxleitner, Ina Dewenter, Paris Liokatis
, Wenko Smolka, Katharina Theresa Obermeier
DOI: 10.12659/AJCR.952353
Am J Case Rep 2026; 27:e952353
597 1,011 0

12 Apr 2026 : Case report
Isolated Mental Nerve Neuropathy as the First Clinical Sign of Nodal Marginal Zone Lymphoma: A Diagnostic Challenge
Anusha Abdullah, Philipp Poxleitner, Ina Dewenter, Paris Liokatis
, Wenko Smolka, Katharina Theresa Obermeier
DOI: 10.12659/AJCR.952353
Am J Case Rep 2026; 27:e952353
597 1011 0

11 Apr 2026 : Case report
Recurrent Bilateral Macular Edema Linked to NOTCH2NLC GGC Repeat Expansion: A Case Report
Ruikang Tan, Minming Zheng, Zheng Zheng, Caixin Wu, Wenli Liu, Ziyan Xu
DOI: 10.12659/AJCR.951749
Am J Case Rep 2026; 27:e951749
532 841 0

11 Apr 2026 : Case report
Recurrent Bilateral Macular Edema Linked to NOTCH2NLC GGC Repeat Expansion: A Case Report
Ruikang Tan, Minming Zheng, Zheng Zheng, Caixin Wu, Wenli Liu, Ziyan Xu
DOI: 10.12659/AJCR.951749
Am J Case Rep 2026; 27:e951749
532 841 0

11 Apr 2026 : Case report
Cerebrospinal Fluid Leak and Pneumocephalus as Consequences of Sneeze Suppression: A Case Report and Review of the Literature
Khalil I. Kariri, Hassan Shoaan Ghafiry
, Abdulrahman A. Otaif, Ibrahim Sumaily
DOI: 10.12659/AJCR.951643
Am J Case Rep 2026; 27:e951643
570 2,255 0

11 Apr 2026 : Case report
Cerebrospinal Fluid Leak and Pneumocephalus as Consequences of Sneeze Suppression: A Case Report and Review of the Literature
Khalil I. Kariri, Hassan Shoaan Ghafiry
, Abdulrahman A. Otaif, Ibrahim Sumaily
DOI: 10.12659/AJCR.951643
Am J Case Rep 2026; 27:e951643
570 2255 0

09 Apr 2026 : Case report
Pyoderma Gangrenosum of the Eyelid: A Challenging Case
Zahrah Ahmed AlAbdullah, Dareen Khawjah, Mostafa Elewa, Eman Faroq Alsaleh
DOI: 10.12659/AJCR.948482
Am J Case Rep 2026; 27:e948482
531 896 0

09 Apr 2026 : Case report
Pyoderma Gangrenosum of the Eyelid: A Challenging Case
Zahrah Ahmed AlAbdullah, Dareen Khawjah, Mostafa Elewa, Eman Faroq Alsaleh
DOI: 10.12659/AJCR.948482
Am J Case Rep 2026; 27:e948482
531 896 0

08 Apr 2026 : Case report
Optical Coherence Tomography Angiography Findings in Post-Traumatic Purtscher Retinopathy: A Case Report
Joanna Roskal-Wałek
, Alicja Ruzik
, Jan Biskup, Ekaterini Zigoura, Michał Biskup, Joanna Gołębiewska
DOI: 10.12659/AJCR.952026
Am J Case Rep 2026; 27:e952026
446 822 0

08 Apr 2026 : Case report
Optical Coherence Tomography Angiography Findings in Post-Traumatic Purtscher Retinopathy: A Case Report
Joanna Roskal-Wałek
, Alicja Ruzik
, Jan Biskup, Ekaterini Zigoura, Michał Biskup, Joanna Gołębiewska
DOI: 10.12659/AJCR.952026
Am J Case Rep 2026; 27:e952026
446 822 0

08 Apr 2026 : Case report
A 9-Year-Old Boy With Strabismus, Anisometropic Amblyopia, and Myopia in the Left Eye, Associated With Myelinated Retinal Nerve Fibers Syndrome, Managed With Multimodal Therapy
Yujiao Zhang
DOI: 10.12659/AJCR.950743
Am J Case Rep 2026; 27:e950743
488 857 0

08 Apr 2026 : Case report
A 9-Year-Old Boy With Strabismus, Anisometropic Amblyopia, and Myopia in the Left Eye, Associated With Myelinated Retinal Nerve Fibers Syndrome, Managed With Multimodal Therapy
Yujiao Zhang
DOI: 10.12659/AJCR.950743
Am J Case Rep 2026; 27:e950743
488 857 0

07 Apr 2026 : Case report
Mycosis Fungoides With Large Cell Lymphoma Transformation: A Report of a Rare Case
Miguel Augusto Martins Pereira
, João Vitor Madureira Bronzo
, Noémie Fourcroy Maillard
, Luciana Pantaleão
DOI: 10.12659/AJCR.951343
Am J Case Rep 2026; 27:e951343
500 1,276 0

07 Apr 2026 : Case report
Mycosis Fungoides With Large Cell Lymphoma Transformation: A Report of a Rare Case
Miguel Augusto Martins Pereira
, João Vitor Madureira Bronzo
, Noémie Fourcroy Maillard
, Luciana Pantaleão
DOI: 10.12659/AJCR.951343
Am J Case Rep 2026; 27:e951343
500 1276 0

03 Apr 2026 : Case report
Acute Gallbladder Volvulus in a 93-Year-Old High-Risk Patient: A Case Report
Olga Bystrova, Maximilian Brunner, Axel Schmid, Robert Grützmann, Andreas Robert Rudolf Weiss
DOI: 10.12659/AJCR.952111
Am J Case Rep 2026; 27:e952111
520 891 0

03 Apr 2026 : Case report
Acute Gallbladder Volvulus in a 93-Year-Old High-Risk Patient: A Case Report
Olga Bystrova, Maximilian Brunner, Axel Schmid, Robert Grützmann, Andreas Robert Rudolf Weiss
DOI: 10.12659/AJCR.952111
Am J Case Rep 2026; 27:e952111
520 891 0

05 Apr 2026 : Case report
Methotrexate-Induced Encephalopathy Mimicking Acute Ischemic Stroke in an Adolescent With Osteosarcoma: A Case Report
Trinh Van Duong
, Duong Thu Huong
, Khoa Quy
, Nguyen Thi Minh Phuong
, Ha Quoc Hung
DOI: 10.12659/AJCR.951751
Am J Case Rep 2026; 27:e951751
560 1,306 0

05 Apr 2026 : Case report
Methotrexate-Induced Encephalopathy Mimicking Acute Ischemic Stroke in an Adolescent With Osteosarcoma: A Case Report
Trinh Van Duong
, Duong Thu Huong
, Khoa Quy
, Nguyen Thi Minh Phuong
, Ha Quoc Hung
DOI: 10.12659/AJCR.951751
Am J Case Rep 2026; 27:e951751
560 1306 0

04 Apr 2026 : Case report
Rapid Cavitary Pneumonia and Reversible Hepatic Injury in Burkholderia pseudomallei ST271 Infection
Nan Zhang, Liang Li, Fang Chen
, Xun Kang, Lei Liu, Dai Kuang
DOI: 10.12659/AJCR.951729
Am J Case Rep 2026; 27:e951729
624 900 0

04 Apr 2026 : Case report
Rapid Cavitary Pneumonia and Reversible Hepatic Injury in Burkholderia pseudomallei ST271 Infection
Nan Zhang, Liang Li, Fang Chen
, Xun Kang, Lei Liu, Dai Kuang
DOI: 10.12659/AJCR.951729
Am J Case Rep 2026; 27:e951729
624 900 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952819
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952834
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953320
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952980
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