Rare disease

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
918 1,858 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
918 1858 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
750 1,492 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
750 1492 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
975 1,759 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
975 1759 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
852 1,566 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
852 1566 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
1,343 2,707 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
1343 2707 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
1,239 1,817 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
1239 1817 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
1,233 2,723 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
1233 2723 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
935 1,849 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
935 1849 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
1,561 3,784 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
1561 3784 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
724 1,494 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
724 1494 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
791 1,771 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
791 1771 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
727 1,363 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
727 1363 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
724 1,798 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
724 1798 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
834 1,806 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
834 1806 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
673 1,257 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
673 1257 0

11 Apr 2026 : Case report
Cerebrospinal Fluid Leak and Pneumocephalus as Consequences of Sneeze Suppression: A Case Report and Review of the Litrature
Khalil I. Kariri, Hassan Shoaan Ghafiry
, Abdulrahman A. Otaif, Ibrahim Sumaily
DOI: 10.12659/AJCR.951643
Am J Case Rep 2026; 27:e951643
782 3,167 0

11 Apr 2026 : Case report
Cerebrospinal Fluid Leak and Pneumocephalus as Consequences of Sneeze Suppression: A Case Report and Review of the Litrature
Khalil I. Kariri, Hassan Shoaan Ghafiry
, Abdulrahman A. Otaif, Ibrahim Sumaily
DOI: 10.12659/AJCR.951643
Am J Case Rep 2026; 27:e951643
782 3167 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
714 1,409 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
714 1409 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
616 1,335 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
616 1335 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
681 1,327 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
681 1327 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
738 2,364 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
738 2364 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
820 2,175 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
820 2175 0

05 Apr 2026 : Case report
Arch-First Technique for Extensive Thoracic Aortic Replacement: A Case Series of Patients With Complex Thoracic Aortic Disease
Vlasios Karageorgos, Matias Matthew Chamogeorgakis, Konstantinos Ieromonachos, Antigoni Koliopoulou, Nikolaos A. Papakonstantinou
, Panagiotis Latsonas, Eris Ntylgia, Athanasios Katsargyris, Christos Klonaris, Themistoklis Chamogeorgakis
DOI: 10.12659/AJCR.951286
Am J Case Rep 2026; 27:e951286
641 1,234 0

05 Apr 2026 : Case report
Arch-First Technique for Extensive Thoracic Aortic Replacement: A Case Series of Patients With Complex Thoracic Aortic Disease
Vlasios Karageorgos, Matias Matthew Chamogeorgakis, Konstantinos Ieromonachos, Antigoni Koliopoulou, Nikolaos A. Papakonstantinou
, Panagiotis Latsonas, Eris Ntylgia, Athanasios Katsargyris, Christos Klonaris, Themistoklis Chamogeorgakis
DOI: 10.12659/AJCR.951286
Am J Case Rep 2026; 27:e951286
641 1234 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
788 1,336 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
788 1336 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
723 1,332 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
723 1332 0

01 Apr 2026 : Case report
Management of Lymphangioma Circumscriptum via Combined Laser Therapy in Pigmented Skin: A Case Report
Revathi Dineshkumar, Shvedha Manthri, Daniela Martinelli
, Alessandra Zevini
, Riccardo Barini
DOI: 10.12659/AJCR.951370
Am J Case Rep 2026; 27:e951370
780 2,604 0

01 Apr 2026 : Case report
Management of Lymphangioma Circumscriptum via Combined Laser Therapy in Pigmented Skin: A Case Report
Revathi Dineshkumar, Shvedha Manthri, Daniela Martinelli
, Alessandra Zevini
, Riccardo Barini
DOI: 10.12659/AJCR.951370
Am J Case Rep 2026; 27:e951370
780 2604 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954889
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954405
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953611
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954016
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