Rare disease

23 Oct 2025 : Case report
Isolated Pulmonary Regurgitation without Right Heart Remodeling or Pulmonary Hypertension
Robert Doyle, Mark Wilkinson
DOI: 10.12659/AJCR.949786
Am J Case Rep 2025; 26:e949786
448 1,847 0

23 Oct 2025 : Case report
Isolated Pulmonary Regurgitation without Right Heart Remodeling or Pulmonary Hypertension
Robert Doyle, Mark Wilkinson
DOI: 10.12659/AJCR.949786
Am J Case Rep 2025; 26:e949786
448 1847 0

23 Sep 2025 : Case report
Acupotomy to Treat Inversion of the Second Toe Combined with Eversion of the First Metatarsophalangeal Toe: A Case Report
Zehao Hu, Hao Qin, Qiuxuan Huang, Zhanxin Li
DOI: 10.12659/AJCR.949599
Am J Case Rep 2025; 26:e949599
288 863 0

23 Sep 2025 : Case report
Acupotomy to Treat Inversion of the Second Toe Combined with Eversion of the First Metatarsophalangeal Toe: A Case Report
Zehao Hu, Hao Qin, Qiuxuan Huang, Zhanxin Li
DOI: 10.12659/AJCR.949599
Am J Case Rep 2025; 26:e949599
288 863 0

21 Oct 2025 : Case report
High-Grade Angiosarcoma Transformation in Schwannoma and SMARCB1 Mutation: A Case Report
Lydia Mbatidde, Rohit Sharma, Michael J. Michalske, Jaswinder Chalia, Adedayo A. Onitilo
DOI: 10.12659/AJCR.947742
Am J Case Rep 2025; 26:e947742
432 1,247 0

21 Oct 2025 : Case report
High-Grade Angiosarcoma Transformation in Schwannoma and SMARCB1 Mutation: A Case Report
Lydia Mbatidde, Rohit Sharma, Michael J. Michalske, Jaswinder Chalia, Adedayo A. Onitilo
DOI: 10.12659/AJCR.947742
Am J Case Rep 2025; 26:e947742
432 1247 0

20 Oct 2025 : Case report
Severe Chemoradiotherapy Toxicity in a Pediatric Patient with Leigh Syndrome and Grade IV Isocitrate Dehydrogenase-Mutant Astrocytoma: A Case Report
Madison T. Granberry, Tyler Severance
, Gregory Biedermann
, Carolyn Quinsey, Dana G. Mazuru, Alicia Bach
DOI: 10.12659/AJCR.949191
Am J Case Rep 2025; 26:e949191
456 1,109 0

20 Oct 2025 : Case report
Severe Chemoradiotherapy Toxicity in a Pediatric Patient with Leigh Syndrome and Grade IV Isocitrate Dehydrogenase-Mutant Astrocytoma: A Case Report
Madison T. Granberry, Tyler Severance
, Gregory Biedermann
, Carolyn Quinsey, Dana G. Mazuru, Alicia Bach
DOI: 10.12659/AJCR.949191
Am J Case Rep 2025; 26:e949191
456 1109 0

23 Oct 2025 : Case report
Left Ventricle Libman-Sacks Endocarditis Secondary to Systemic Lupus Erythematosus and Antiphospholipid Syndrome: A Case Report
Zi-hao Yang, Wen-qing Gong, Ying Liu, Min-juan Zheng
DOI: 10.12659/AJCR.949826
Am J Case Rep 2025; 26:e949826
597 1,461 0

23 Oct 2025 : Case report
Left Ventricle Libman-Sacks Endocarditis Secondary to Systemic Lupus Erythematosus and Antiphospholipid Syndrome: A Case Report
Zi-hao Yang, Wen-qing Gong, Ying Liu, Min-juan Zheng
DOI: 10.12659/AJCR.949826
Am J Case Rep 2025; 26:e949826
597 1461 0

21 Oct 2025 : Case report
Methimazole-Induced Antithyroid Arthritis Syndrome in Graves' Disease Management: A Case Report
DOI: 10.12659/AJCR.949509
Am J Case Rep 2025; 26:e949509
675 3,868 0

21 Oct 2025 : Case report
Methimazole-Induced Antithyroid Arthritis Syndrome in Graves' Disease Management: A Case Report
DOI: 10.12659/AJCR.949509
Am J Case Rep 2025; 26:e949509
675 3868 0

16 Oct 2025 : Case report
A Hybrid Approach in Treating a Mycotic Aneurism Caused by MRSA: A Case Report
Camilo Andres Calderon-Miranda
, Luz Clemencia Zárate-Correa
, María Juliana Reyes-Cardona
, Pastor Olaya
, Jairo Sanchez-Blanco
, Jorge Alexander Zambrano-Franco
, Juan Pablo Carbonell
, Enrique Carlos García-Pretelt
, Carlos Enrique Vesga-Reyes
DOI: 10.12659/AJCR.950007
Am J Case Rep 2025; 26:e950007
447 1,920 0

16 Oct 2025 : Case report
A Hybrid Approach in Treating a Mycotic Aneurism Caused by MRSA: A Case Report
Camilo Andres Calderon-Miranda
, Luz Clemencia Zárate-Correa
, María Juliana Reyes-Cardona
, Pastor Olaya
, Jairo Sanchez-Blanco
, Jorge Alexander Zambrano-Franco
, Juan Pablo Carbonell
, Enrique Carlos García-Pretelt
, Carlos Enrique Vesga-Reyes
DOI: 10.12659/AJCR.950007
Am J Case Rep 2025; 26:e950007
447 1920 0

19 Oct 2025 : Case report
Retroperitoneal Necrotizing Fasciitis Mimicking Fournier Gangrene: A Rare and Severe Diagnostic Entity
Xun Wang, Yang Li, Jing Wang
DOI: 10.12659/AJCR.949312
Am J Case Rep 2025; 26:e949312
353 1,750 0

19 Oct 2025 : Case report
Retroperitoneal Necrotizing Fasciitis Mimicking Fournier Gangrene: A Rare and Severe Diagnostic Entity
Xun Wang, Yang Li, Jing Wang
DOI: 10.12659/AJCR.949312
Am J Case Rep 2025; 26:e949312
353 1750 0

09 Oct 2025 : Case report
Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report
Grace Z. Armstrong, Kathleen K. Ho, Tyler J. Knight, Erin E. Conboy
DOI: 10.12659/AJCR.949311
Am J Case Rep 2025; 26:e949311
329 1,284 0

09 Oct 2025 : Case report
Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report
Grace Z. Armstrong, Kathleen K. Ho, Tyler J. Knight, Erin E. Conboy
DOI: 10.12659/AJCR.949311
Am J Case Rep 2025; 26:e949311
329 1284 0

16 Oct 2025 : Case report
Renal Cell Carcinoma with Fibromyomatous Stroma: A Case Report
Eman Mostafa Keshk, Ammara Kashif, Abdullah Sulaiman Alsulaiman, Nawal Ahmed Abdullah, Saud Omar Alafghani, Hisham Saeed Jamaan Alzahrani, Ensherah Mohammed Alghamdi, Rawan Khader Alhuthali, Khalid Ahmed Alasiri, Rasha Fayez Alharthi, Rakan Fayez Alharthi, Hussian R. Barnawi, Wafa Mutlag Alotaibi
DOI: 10.12659/AJCR.948666
Am J Case Rep 2025; 26:e948666
386 1,801 0

16 Oct 2025 : Case report
Renal Cell Carcinoma with Fibromyomatous Stroma: A Case Report
Eman Mostafa Keshk, Ammara Kashif, Abdullah Sulaiman Alsulaiman, Nawal Ahmed Abdullah, Saud Omar Alafghani, Hisham Saeed Jamaan Alzahrani, Ensherah Mohammed Alghamdi, Rawan Khader Alhuthali, Khalid Ahmed Alasiri, Rasha Fayez Alharthi, Rakan Fayez Alharthi, Hussian R. Barnawi, Wafa Mutlag Alotaibi
DOI: 10.12659/AJCR.948666
Am J Case Rep 2025; 26:e948666
386 1801 0

15 Oct 2025 : Case report
Uncommon Localization of Tenosynovial Giant Cell Tumor in the Coracoclavicular Ligament: Diagnostic Challenges
Zeming Li, Hao Feng, Lingyun Chen, Jun Yao, Hongtao Wang
DOI: 10.12659/AJCR.949269
Am J Case Rep 2025; 26:e949269
378 1,104 0

15 Oct 2025 : Case report
Uncommon Localization of Tenosynovial Giant Cell Tumor in the Coracoclavicular Ligament: Diagnostic Challenges
Zeming Li, Hao Feng, Lingyun Chen, Jun Yao, Hongtao Wang
DOI: 10.12659/AJCR.949269
Am J Case Rep 2025; 26:e949269
378 1104 0

12 Oct 2025 : Case report
Laparoscopic Repair of Diaphragmatic Pericardial Hernia Following Blunt Trauma: A Case Report
Mohammad Al Yaseen, Moamena El Matbouly
, Ahmed Suliman, Ahmed Zuhair Al Bahrani
DOI: 10.12659/AJCR.948775
Am J Case Rep 2025; 26:e948775
354 1,210 0

12 Oct 2025 : Case report
Laparoscopic Repair of Diaphragmatic Pericardial Hernia Following Blunt Trauma: A Case Report
Mohammad Al Yaseen, Moamena El Matbouly
, Ahmed Suliman, Ahmed Zuhair Al Bahrani
DOI: 10.12659/AJCR.948775
Am J Case Rep 2025; 26:e948775
354 1210 0

05 Oct 2025 : Case report
Enhancing Detection and Management of Spontaneous Bilateral Ectopic Pregnancies: Insights From a Rare Case
Haneen AlJalodi, Farah AlMughrbi, Kat Pavlidi, Penny Robshaw
DOI: 10.12659/AJCR.949468
Am J Case Rep 2025; 26:e949468
331 1,176 0

05 Oct 2025 : Case report
Enhancing Detection and Management of Spontaneous Bilateral Ectopic Pregnancies: Insights From a Rare Case
Haneen AlJalodi, Farah AlMughrbi, Kat Pavlidi, Penny Robshaw
DOI: 10.12659/AJCR.949468
Am J Case Rep 2025; 26:e949468
331 1176 0

03 Sep 2025 : Case report
Portomesenteric Vein Thrombosis Following Sleeve Gastrectomy: A Case Report and Literature Review
Jóse Sergio Verboonen Sotelo, Jaime Ponce de León Palomares, Jeffry Romero Manzano, Hector Joaquin Pérez Corzo, Jesus Antonio Villalobos López, Gustavo Adolfo Linden Pérez-Gavilán, Guillermo Vega Tostado, Gabriela Verboonen Partida
DOI: 10.12659/AJCR.947151
Am J Case Rep 2025; 26:e947151
480 1,850 0

03 Sep 2025 : Case report
Portomesenteric Vein Thrombosis Following Sleeve Gastrectomy: A Case Report and Literature Review
Jóse Sergio Verboonen Sotelo, Jaime Ponce de León Palomares, Jeffry Romero Manzano, Hector Joaquin Pérez Corzo, Jesus Antonio Villalobos López, Gustavo Adolfo Linden Pérez-Gavilán, Guillermo Vega Tostado, Gabriela Verboonen Partida
DOI: 10.12659/AJCR.947151
Am J Case Rep 2025; 26:e947151
480 1850 0

05 Oct 2025 : Case report
Cardiotoxicity Secondary to Accidental Tilmicosin (Micotil®300) Ingestion in a Young Shepherd: A Case Report
Zein B. Sheikh, Bayan S. Alalawi
, Fadyah M. Alradaddi, Ahlam Y. Elbadri
DOI: 10.12659/AJCR.948094
Am J Case Rep 2025; 26:e948094
385 1,649 0

05 Oct 2025 : Case report
Cardiotoxicity Secondary to Accidental Tilmicosin (Micotil®300) Ingestion in a Young Shepherd: A Case Report
Zein B. Sheikh, Bayan S. Alalawi
, Fadyah M. Alradaddi, Ahlam Y. Elbadri
DOI: 10.12659/AJCR.948094
Am J Case Rep 2025; 26:e948094
385 1649 0

04 Oct 2025 : Case report
Novel Use of Robotic Surgery in a Rare Case of Canal of Nuck Cyst: A Case Report and Literature Review
Winnie Long, Jamie Han, Luca Milone
DOI: 10.12659/AJCR.949239
Am J Case Rep 2025; 26:e949239
280 1,250 0

04 Oct 2025 : Case report
Novel Use of Robotic Surgery in a Rare Case of Canal of Nuck Cyst: A Case Report and Literature Review
Winnie Long, Jamie Han, Luca Milone
DOI: 10.12659/AJCR.949239
Am J Case Rep 2025; 26:e949239
280 1250 0

04 Oct 2025 : Case report
Perforated Meckel Diverticulum Caused by Vegetal Food Entrapment: A Rare Case Report and Literature Review
Odile Sorg, Xenofon Papazarkadas
, Michaël Racine
, Christian Toso
, Stefan Mönig
DOI: 10.12659/AJCR.948592
Am J Case Rep 2025; 26:e948592
351 1,224 0

04 Oct 2025 : Case report
Perforated Meckel Diverticulum Caused by Vegetal Food Entrapment: A Rare Case Report and Literature Review
Odile Sorg, Xenofon Papazarkadas
, Michaël Racine
, Christian Toso
, Stefan Mönig
DOI: 10.12659/AJCR.948592
Am J Case Rep 2025; 26:e948592
351 1224 0

03 Oct 2025 : Case report
A Rare Case of Waldenström Macroglobulinemia Presenting as Bilateral Bloody Pleural Effusion and Pancytopenia
Yue Qing Chen, Hua Wang, Qiong Feng
DOI: 10.12659/AJCR.948815
Am J Case Rep 2025; 26:e948815
371 1,313 0

03 Oct 2025 : Case report
A Rare Case of Waldenström Macroglobulinemia Presenting as Bilateral Bloody Pleural Effusion and Pancytopenia
Yue Qing Chen, Hua Wang, Qiong Feng
DOI: 10.12659/AJCR.948815
Am J Case Rep 2025; 26:e948815
371 1313 0

02 Oct 2025 : Case report
Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Beshaier Almulhem
, Fatimah Mouayed AlJishi
, Mohammad Al-Qahtani
DOI: 10.12659/AJCR.948210
Am J Case Rep 2025; 26:e948210
392 1,654 0

02 Oct 2025 : Case report
Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Beshaier Almulhem
, Fatimah Mouayed AlJishi
, Mohammad Al-Qahtani
DOI: 10.12659/AJCR.948210
Am J Case Rep 2025; 26:e948210
392 1654 0

28 Sep 2025 : Case report
Eosinophilic Fasciitis in a 78-Year-Old Man Following Pembrolizumab Treatment for Bladder Cancer
Ibiyemi Oke, Aleksander Lenert, Brian L. Swick, Petar Lenert
DOI: 10.12659/AJCR.948323
Am J Case Rep 2025; 26:e948323
432 1,255 0

28 Sep 2025 : Case report
Eosinophilic Fasciitis in a 78-Year-Old Man Following Pembrolizumab Treatment for Bladder Cancer
Ibiyemi Oke, Aleksander Lenert, Brian L. Swick, Petar Lenert
DOI: 10.12659/AJCR.948323
Am J Case Rep 2025; 26:e948323
432 1255 0

30 Sep 2025 : Case report
Disseminated Peritoneal Leiomyomatosis of the Peritoneum Following Laparoscopic Supracervical Hysterectomy with Morcellation: A Case Report
Jakub Młodawski
, Marcin Majczak, Anna Zmelonek-Znamirowska
, Jakub Kabza
, Marta Młodawska
, Zdzisław Domagała, Nina Zbylut, Piotr Lewitowicz
, Grzegorz Świercz
DOI: 10.12659/AJCR.948218
Am J Case Rep 2025; 26:e948218
341 1,372 0

30 Sep 2025 : Case report
Disseminated Peritoneal Leiomyomatosis of the Peritoneum Following Laparoscopic Supracervical Hysterectomy with Morcellation: A Case Report
Jakub Młodawski
, Marcin Majczak, Anna Zmelonek-Znamirowska
, Jakub Kabza
, Marta Młodawska
, Zdzisław Domagała, Nina Zbylut, Piotr Lewitowicz
, Grzegorz Świercz
DOI: 10.12659/AJCR.948218
Am J Case Rep 2025; 26:e948218
341 1372 0

27 Sep 2025 : Case report
SMARCA4-Deficient Undifferentiated Carcinoma: A Report of 2 Cases
Sa-Hong Kim, Kyoyoung Park, Jane Chungyoon Kim, Jeesun Kim, Do-Joong Park, Hyuk-Joon Lee, Han-Kwang Yang, Yoonjin Kwak, Seong-Ho Kong
DOI: 10.12659/AJCR.949989
Am J Case Rep 2025; 26:e949989
621 2,912 0

27 Sep 2025 : Case report
SMARCA4-Deficient Undifferentiated Carcinoma: A Report of 2 Cases
Sa-Hong Kim, Kyoyoung Park, Jane Chungyoon Kim, Jeesun Kim, Do-Joong Park, Hyuk-Joon Lee, Han-Kwang Yang, Yoonjin Kwak, Seong-Ho Kong
DOI: 10.12659/AJCR.949989
Am J Case Rep 2025; 26:e949989
621 2912 0

27 Sep 2025 : Case report
Restoration of Cardiac Function in Left Bundle Branch Block-Induced Cardiomyopathy via Conduction System Pacing: A Case Report
Jing Wang, Bing Han, Xiaojuan Wang, Zixian Chen, Wenqiang Li
DOI: 10.12659/AJCR.948576
Am J Case Rep 2025; 26:e948576
419 2,113 0

27 Sep 2025 : Case report
Restoration of Cardiac Function in Left Bundle Branch Block-Induced Cardiomyopathy via Conduction System Pacing: A Case Report
Jing Wang, Bing Han, Xiaojuan Wang, Zixian Chen, Wenqiang Li
DOI: 10.12659/AJCR.948576
Am J Case Rep 2025; 26:e948576
419 2113 0

15 Sep 2025 : Case report
Vertebral Artery Dissection Induced by Fitness Video Game Exercise: A Case Report
Hiroyuki Tokue, Azusa Tokue, Yoshito Tsushima
DOI: 10.12659/AJCR.950188
Am J Case Rep 2025; 26:e950188
594 2,185 0

15 Sep 2025 : Case report
Vertebral Artery Dissection Induced by Fitness Video Game Exercise: A Case Report
Hiroyuki Tokue, Azusa Tokue, Yoshito Tsushima
DOI: 10.12659/AJCR.950188
Am J Case Rep 2025; 26:e950188
594 2185 0

22 Sep 2025 : Case report
Initial Manic Presentation in Creutzfeldt-Jakob Disease: A Case Report
Fatima Ghazi Alotaibi
, Rakan Bahammam
, Khalid M. Alqarni
, Othman O. Aldraihem
DOI: 10.12659/AJCR.949905
Am J Case Rep 2025; 26:e949905
578 2,229 0

22 Sep 2025 : Case report
Initial Manic Presentation in Creutzfeldt-Jakob Disease: A Case Report
Fatima Ghazi Alotaibi
, Rakan Bahammam
, Khalid M. Alqarni
, Othman O. Aldraihem
DOI: 10.12659/AJCR.949905
Am J Case Rep 2025; 26:e949905
578 2229 0
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953173
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953192
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952818
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953608
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