Rare disease

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
534 1,324 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
534 1324 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
720 1,708 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
720 1708 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
898 4,744 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
898 4744 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
565 2,605 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
565 2605 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
454 2,093 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
454 2093 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
440 1,632 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
440 1632 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
483 2,337 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
483 2337 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
535 1,471 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
535 1471 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
440 1,491 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
440 1491 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
428 1,565 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
428 1565 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
574 2,257 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
574 2257 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
459 2,003 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
459 2003 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
395 1,574 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
395 1574 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
453 1,483 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
453 1483 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
519 1,735 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
519 1735 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
506 2,491 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
506 2491 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
548 1,541 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
548 1541 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
468 1,747 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
468 1747 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
796 3,706 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
796 3706 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
569 2,777 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
569 2777 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
746 2,814 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
746 2814 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
684 2,604 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
684 2604 0

21 Sep 2025 : Case report
Acute Gluteal Compartment Syndrome and Sciatic Nerve Palsy Following Prolonged Immobilization in an Intravenous Drug User: A Case Report
Platon Papageorgiou
, Vasileios Giannatos
, Panagiotis Antzoulas
, Evangelia Argyropoulou
, Christos Koukos
, Zinon Kokkalis
DOI: 10.12659/AJCR.948893
Am J Case Rep 2025; 26:e948893
413 2,146 0

21 Sep 2025 : Case report
Acute Gluteal Compartment Syndrome and Sciatic Nerve Palsy Following Prolonged Immobilization in an Intravenous Drug User: A Case Report
Platon Papageorgiou
, Vasileios Giannatos
, Panagiotis Antzoulas
, Evangelia Argyropoulou
, Christos Koukos
, Zinon Kokkalis
DOI: 10.12659/AJCR.948893
Am J Case Rep 2025; 26:e948893
413 2146 0

20 Sep 2025 : Case report
Alveolar Echinococcosis Mimicking Perihilar Cholangiocarcinoma Leading to Liver Transplant: A Case Report
Hrvoje Premec, Mislav Barišić-Jaman
, Petra Dinjar Kujundžić, Nikola Sobočan, Maja Mijić, Miloš Lalovac, Frane Paštrović, Vid Matišić, Ivica Grgurević, Tajana Filipec-Kanižaj
DOI: 10.12659/AJCR.948414
Am J Case Rep 2025; 26:e948414
468 1,178 0

20 Sep 2025 : Case report
Alveolar Echinococcosis Mimicking Perihilar Cholangiocarcinoma Leading to Liver Transplant: A Case Report
Hrvoje Premec, Mislav Barišić-Jaman
, Petra Dinjar Kujundžić, Nikola Sobočan, Maja Mijić, Miloš Lalovac, Frane Paštrović, Vid Matišić, Ivica Grgurević, Tajana Filipec-Kanižaj
DOI: 10.12659/AJCR.948414
Am J Case Rep 2025; 26:e948414
468 1178 0

18 Sep 2025 : Case report
Gestational Gigantomastia in Multiparity: Successful Management with Bilateral Reduction and Free Nipple Grafts
Ebtesam Almajed, Rana Alkhelaif, Saud Alrasheedi, Mishal D. Alshammari
DOI: 10.12659/AJCR.948337
Am J Case Rep 2025; 26:e948337
510 1,495 0

18 Sep 2025 : Case report
Gestational Gigantomastia in Multiparity: Successful Management with Bilateral Reduction and Free Nipple Grafts
Ebtesam Almajed, Rana Alkhelaif, Saud Alrasheedi, Mishal D. Alshammari
DOI: 10.12659/AJCR.948337
Am J Case Rep 2025; 26:e948337
510 1495 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952921
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953836
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953506
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953059
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