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Rare disease

#952646

07 May 2026 : Case report  Saudi Arabia

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 ORCID logo

DOI: 10.12659/AJCR.952646

Am J Case Rep 2026; 27:e952646

727 1,120 0

#952646

07 May 2026 : Case report  Saudi Arabia

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 ORCID logo

DOI: 10.12659/AJCR.952646

Am J Case Rep 2026; 27:e952646

727 1120 0

#951330

05 May 2026 : Case report  China

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

#951330

05 May 2026 : Case report  China

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

#951080

03 May 2026 : Case report  Vietnam

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

#951080

03 May 2026 : Case report  Vietnam

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

#950844

01 May 2026 : Case report  China

Retinal Granuloma Progression After Scleral Buckling in Ocular Toxocariasis: A Case Report

Xiaolan Liu, Luyun Liang ORCID logo, Liyan Ye, Yiqin Duan

DOI: 10.12659/AJCR.950844

Am J Case Rep 2026; 27:e950844

565 943 0

#950844

01 May 2026 : Case report  China

Retinal Granuloma Progression After Scleral Buckling in Ocular Toxocariasis: A Case Report

Xiaolan Liu, Luyun Liang ORCID logo, Liyan Ye, Yiqin Duan

DOI: 10.12659/AJCR.950844

Am J Case Rep 2026; 27:e950844

565 943 0

#951823

29 Apr 2026 : Case report  USA

A Rare Case of Stevens-Johnson Syndrome in a Young Patient Presenting With Odynophagia Following Antibiotic Use

John Tomasini, Joanna Sajdlowska ORCID logo, Gregory Crisafulli ORCID logo, Hillel Ephros

DOI: 10.12659/AJCR.951823

Am J Case Rep 2026; 27:e951823

721 1,165 0

#951823

29 Apr 2026 : Case report  USA

A Rare Case of Stevens-Johnson Syndrome in a Young Patient Presenting With Odynophagia Following Antibiotic Use

John Tomasini, Joanna Sajdlowska ORCID logo, Gregory Crisafulli ORCID logo, Hillel Ephros

DOI: 10.12659/AJCR.951823

Am J Case Rep 2026; 27:e951823

721 1165 0

#951892

28 Apr 2026 : Case report  Bahrain

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 ORCID logo, Hessa Mohammed Albuainain, Raafat Hammad Jadah

DOI: 10.12659/AJCR.951892

Am J Case Rep 2026; 27:e951892

628 975 0

#951892

28 Apr 2026 : Case report  Bahrain

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 ORCID logo, Hessa Mohammed Albuainain, Raafat Hammad Jadah

DOI: 10.12659/AJCR.951892

Am J Case Rep 2026; 27:e951892

628 975 0

#951952

27 Apr 2026 : Case report  USA

Gastric Sarcoidosis Masquerading as Gastroesophageal Reflux Disease: A Case of Diagnostic Uncertainty and Conservative Management

Olanrewaju Adeniran ORCID logo, Abdullahi Sulaiman, Megan Willard

DOI: 10.12659/AJCR.951952

Am J Case Rep 2026; 27:e951952

907 1,692 0

#951952

27 Apr 2026 : Case report  USA

Gastric Sarcoidosis Masquerading as Gastroesophageal Reflux Disease: A Case of Diagnostic Uncertainty and Conservative Management

Olanrewaju Adeniran ORCID logo, Abdullahi Sulaiman, Megan Willard

DOI: 10.12659/AJCR.951952

Am J Case Rep 2026; 27:e951952

907 1692 0

#951324

26 Apr 2026 : Case report  Italy

Neuroendocrine Carcinoma of the Submandibular Gland in an Older Adult: A Rare Case and Literature Review

Rossana Moi, Ingrid Raponi ORCID logo, 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

#951324

26 Apr 2026 : Case report  Italy

Neuroendocrine Carcinoma of the Submandibular Gland in an Older Adult: A Rare Case and Literature Review

Rossana Moi, Ingrid Raponi ORCID logo, 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

#950621

21 Apr 2026 : Case report  USA

Cronkhite-Canada Syndrome: A Diagnostic Challenge and Management With Vedolizumab

Aida Nasirishargh ORCID logo, Robert Luke Pecha, Ashna Aggarwal, Kurt Schaberg, Dongguang Wei, Eric J. Mao ORCID logo

DOI: 10.12659/AJCR.950621

Am J Case Rep 2026; 27:e950621

1,028 2,434 0

#950621

21 Apr 2026 : Case report  USA

Cronkhite-Canada Syndrome: A Diagnostic Challenge and Management With Vedolizumab

Aida Nasirishargh ORCID logo, Robert Luke Pecha, Ashna Aggarwal, Kurt Schaberg, Dongguang Wei, Eric J. Mao ORCID logo

DOI: 10.12659/AJCR.950621

Am J Case Rep 2026; 27:e950621

1028 2434 0

#950808

22 Apr 2026 : Case report  Romania

Diagnostic Approaches to Adult Cystic Nephroma: Insights From Two Cases

Madalina Bosoteanu, Raluca Ioana Vodă, Cristian Ionut Orășanu ORCID logo, Luana-Andreea Nurla, Nicolae Ciufu

DOI: 10.12659/AJCR.950808

Am J Case Rep 2026; 27:e950808

826 1,713 0

#950808

22 Apr 2026 : Case report  Romania

Diagnostic Approaches to Adult Cystic Nephroma: Insights From Two Cases

Madalina Bosoteanu, Raluca Ioana Vodă, Cristian Ionut Orășanu ORCID logo, Luana-Andreea Nurla, Nicolae Ciufu

DOI: 10.12659/AJCR.950808

Am J Case Rep 2026; 27:e950808

826 1713 0

#951159

17 Apr 2026 : Case report  USA

Cocaine–Levamisole-Associated Vasculopathy Mimicking ANCA-Associated Vasculitis and Presenting With Pulmonary–Renal Syndrome Requiring VV-ECMO Support

Zahra Vaezi ORCID logo, Afshin Amini

DOI: 10.12659/AJCR.951159

Am J Case Rep 2026; 27:e951159

604 1,155 0

#951159

17 Apr 2026 : Case report  USA

Cocaine–Levamisole-Associated Vasculopathy Mimicking ANCA-Associated Vasculitis and Presenting With Pulmonary–Renal Syndrome Requiring VV-ECMO Support

Zahra Vaezi ORCID logo, Afshin Amini

DOI: 10.12659/AJCR.951159

Am J Case Rep 2026; 27:e951159

604 1155 0

#951364

14 Apr 2026 : Case report  USA

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

#951364

14 Apr 2026 : Case report  USA

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

#952592

21 Apr 2026 : Case report  Japan

Severe Optic Neuroretinitis and Vitreous Hemorrhage in Pediatric Cat-Scratch Disease: A Case With Irreversible Visual Impairment

Satoko Koga, Kie Iida ORCID logo, Hiromi Onouchi, Masayuki Washizawa, Toshiaki Goseki ORCID logo

DOI: 10.12659/AJCR.952592

Am J Case Rep 2026; 27:e952592

708 1,253 0

#952592

21 Apr 2026 : Case report  Japan

Severe Optic Neuroretinitis and Vitreous Hemorrhage in Pediatric Cat-Scratch Disease: A Case With Irreversible Visual Impairment

Satoko Koga, Kie Iida ORCID logo, Hiromi Onouchi, Masayuki Washizawa, Toshiaki Goseki ORCID logo

DOI: 10.12659/AJCR.952592

Am J Case Rep 2026; 27:e952592

708 1253 0

#950307

15 Apr 2026 : Case report  Brazil

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 ORCID logo

DOI: 10.12659/AJCR.950307

Am J Case Rep 2026; 27:e950307

522 787 0

#950307

15 Apr 2026 : Case report  Brazil

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 ORCID logo

DOI: 10.12659/AJCR.950307

Am J Case Rep 2026; 27:e950307

522 787 0

#952352

19 Apr 2026 : Case report  Malaysia

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

#952352

19 Apr 2026 : Case report  Malaysia

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

#952353

12 Apr 2026 : Case report  Germany

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 ORCID logo, Wenko Smolka, Katharina Theresa Obermeier

DOI: 10.12659/AJCR.952353

Am J Case Rep 2026; 27:e952353

597 1,011 0

#952353

12 Apr 2026 : Case report  Germany

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 ORCID logo, Wenko Smolka, Katharina Theresa Obermeier

DOI: 10.12659/AJCR.952353

Am J Case Rep 2026; 27:e952353

597 1011 0

#951749

11 Apr 2026 : Case report  China

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

#951749

11 Apr 2026 : Case report  China

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

#951643

11 Apr 2026 : Case report  Saudi Arabia

Cerebrospinal Fluid Leak and Pneumocephalus as Consequences of Sneeze Suppression: A Case Report and Review of the Literature

Khalil I. Kariri, Hassan Shoaan Ghafiry ORCID logo, Abdulrahman A. Otaif, Ibrahim Sumaily ORCID logo

DOI: 10.12659/AJCR.951643

Am J Case Rep 2026; 27:e951643

570 2,255 0

#951643

11 Apr 2026 : Case report  Saudi Arabia

Cerebrospinal Fluid Leak and Pneumocephalus as Consequences of Sneeze Suppression: A Case Report and Review of the Literature

Khalil I. Kariri, Hassan Shoaan Ghafiry ORCID logo, Abdulrahman A. Otaif, Ibrahim Sumaily ORCID logo

DOI: 10.12659/AJCR.951643

Am J Case Rep 2026; 27:e951643

570 2255 0

#948482

09 Apr 2026 : Case report  Saudi Arabia

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

#948482

09 Apr 2026 : Case report  Saudi Arabia

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

#952026

08 Apr 2026 : Case report  Poland

Optical Coherence Tomography Angiography Findings in Post-Traumatic Purtscher Retinopathy: A Case Report

Joanna Roskal-Wałek ORCID logo, Alicja Ruzik ORCID logo, Jan Biskup, Ekaterini Zigoura, Michał Biskup, Joanna Gołębiewska ORCID logo

DOI: 10.12659/AJCR.952026

Am J Case Rep 2026; 27:e952026

446 822 0

#952026

08 Apr 2026 : Case report  Poland

Optical Coherence Tomography Angiography Findings in Post-Traumatic Purtscher Retinopathy: A Case Report

Joanna Roskal-Wałek ORCID logo, Alicja Ruzik ORCID logo, Jan Biskup, Ekaterini Zigoura, Michał Biskup, Joanna Gołębiewska ORCID logo

DOI: 10.12659/AJCR.952026

Am J Case Rep 2026; 27:e952026

446 822 0

#951343

07 Apr 2026 : Case report  Brazil

Mycosis Fungoides With Large Cell Lymphoma Transformation: A Report of a Rare Case

Miguel Augusto Martins Pereira ORCID logo, João Vitor Madureira Bronzo ORCID logo, Noémie Fourcroy Maillard ORCID logo, Luciana Pantaleão ORCID logo

DOI: 10.12659/AJCR.951343

Am J Case Rep 2026; 27:e951343

500 1,276 0

#951343

07 Apr 2026 : Case report  Brazil

Mycosis Fungoides With Large Cell Lymphoma Transformation: A Report of a Rare Case

Miguel Augusto Martins Pereira ORCID logo, João Vitor Madureira Bronzo ORCID logo, Noémie Fourcroy Maillard ORCID logo, Luciana Pantaleão ORCID logo

DOI: 10.12659/AJCR.951343

Am J Case Rep 2026; 27:e951343

500 1276 0

#952111

03 Apr 2026 : Case report  Germany

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 ORCID logo

DOI: 10.12659/AJCR.952111

Am J Case Rep 2026; 27:e952111

520 891 0

#952111

03 Apr 2026 : Case report  Germany

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 ORCID logo

DOI: 10.12659/AJCR.952111

Am J Case Rep 2026; 27:e952111

520 891 0

#951751

05 Apr 2026 : Case report  Vietnam

Methotrexate-Induced Encephalopathy Mimicking Acute Ischemic Stroke in an Adolescent With Osteosarcoma: A Case Report

Trinh Van Duong ORCID logo, Duong Thu Huong ORCID logo, Khoa Quy ORCID logo, Nguyen Thi Minh Phuong ORCID logo, Ha Quoc Hung ORCID logo

DOI: 10.12659/AJCR.951751

Am J Case Rep 2026; 27:e951751

560 1,306 0

#951751

05 Apr 2026 : Case report  Vietnam

Methotrexate-Induced Encephalopathy Mimicking Acute Ischemic Stroke in an Adolescent With Osteosarcoma: A Case Report

Trinh Van Duong ORCID logo, Duong Thu Huong ORCID logo, Khoa Quy ORCID logo, Nguyen Thi Minh Phuong ORCID logo, Ha Quoc Hung ORCID logo

DOI: 10.12659/AJCR.951751

Am J Case Rep 2026; 27:e951751

560 1306 0

#951729

04 Apr 2026 : Case report  China

Rapid Cavitary Pneumonia and Reversible Hepatic Injury in Burkholderia pseudomallei ST271 Infection

Nan Zhang, Liang Li, Fang Chen ORCID logo, Xun Kang, Lei Liu, Dai Kuang ORCID logo

DOI: 10.12659/AJCR.951729

Am J Case Rep 2026; 27:e951729

624 900 0

#951729

04 Apr 2026 : Case report  China

Rapid Cavitary Pneumonia and Reversible Hepatic Injury in Burkholderia pseudomallei ST271 Infection

Nan Zhang, Liang Li, Fang Chen ORCID logo, Xun Kang, Lei Liu, Dai Kuang ORCID logo

DOI: 10.12659/AJCR.951729

Am J Case Rep 2026; 27:e951729

624 900 0

In Press

Case report  USA

Refractory Hyperammonemic Encephalopathy as a Paraneoplastic Presentation of Fibrolamellar Hepatocellular C...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952819  

Case report  Indonesia

Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.952834  

Case report  France

Pilomatricoma in an Octogenarian: A Case Report of an Exceptional Late-Life Presentation

Am J Case Rep In Press; DOI: 10.12659/AJCR.953320  

Case report  USA

Canine-Associated Capnocytophaga canimorsus Bacteremia in an Older Adult Without Classical Immunosuppressiv...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952980  

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923