Rare disease

29 Aug 2025 : Case report
Radial Periosteal Distraction as a Novel Intervention for Raynaud Syndrome with Gangrene: A Case Report
Xiaoyu Zheng, Yang Yang, Hongliang Jin, Yiguo Chen, Wei Wang
DOI: 10.12659/AJCR.948422
Am J Case Rep 2025; 26:e948422
672 1,911 0

29 Aug 2025 : Case report
Radial Periosteal Distraction as a Novel Intervention for Raynaud Syndrome with Gangrene: A Case Report
Xiaoyu Zheng, Yang Yang, Hongliang Jin, Yiguo Chen, Wei Wang
DOI: 10.12659/AJCR.948422
Am J Case Rep 2025; 26:e948422
672 1911 0

27 Aug 2025 : Case report
Extranodal Rosai-Dorfman Disease in a Pediatric Patient: A Case Report
Lili Miles, Caroline Baughn
, Gleidson Messias Silva
, Dorothea L. Douglas, Lei Shao
DOI: 10.12659/AJCR.948533
Am J Case Rep 2025; 26:e948533
542 1,929 0

27 Aug 2025 : Case report
Extranodal Rosai-Dorfman Disease in a Pediatric Patient: A Case Report
Lili Miles, Caroline Baughn
, Gleidson Messias Silva
, Dorothea L. Douglas, Lei Shao
DOI: 10.12659/AJCR.948533
Am J Case Rep 2025; 26:e948533
542 1929 0

25 Aug 2025 : Case report
Rapid Progression of Primary Hepatic Neuroendocrine Carcinoma: A Case Report Demonstrating Drastic Oncological Behavior
Rina Kobayashi, Tomohide Hori
, Makoto Yamawaki, Shigeki Nakayama, Satoru Umegae, Takao Iwanaga, Ryutaro Nishikawa, Takahiro Shimoyama, Sakurako Suzuki, Shinichiro Atsumi, Hiroshi Hasegawa, Shigehito Nakashima, Kunihiro Higuchi, Kentaro Onishi, Ryotaro Sakaguchi, Shoichi Morita, Haruka Miyao, Saki Aota, Hikaru Ohtani, Takayuki Yamamoto
DOI: 10.12659/AJCR.948500
Am J Case Rep 2025; 26:e948500
915 1,704 0

25 Aug 2025 : Case report
Rapid Progression of Primary Hepatic Neuroendocrine Carcinoma: A Case Report Demonstrating Drastic Oncological Behavior
Rina Kobayashi, Tomohide Hori
, Makoto Yamawaki, Shigeki Nakayama, Satoru Umegae, Takao Iwanaga, Ryutaro Nishikawa, Takahiro Shimoyama, Sakurako Suzuki, Shinichiro Atsumi, Hiroshi Hasegawa, Shigehito Nakashima, Kunihiro Higuchi, Kentaro Onishi, Ryotaro Sakaguchi, Shoichi Morita, Haruka Miyao, Saki Aota, Hikaru Ohtani, Takayuki Yamamoto
DOI: 10.12659/AJCR.948500
Am J Case Rep 2025; 26:e948500
915 1704 0

25 Aug 2025 : Case report
Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter
Junying Zhu, Shimiao Dai, Yao Li, Miaomiao Ma, Ming Chu, ZhiQiang Lin
, Litao Sun
, Ji-Chang Zhou
DOI: 10.12659/AJCR.947400
Am J Case Rep 2025; 26:e947400
1,022 2,651 0

25 Aug 2025 : Case report
Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter
Junying Zhu, Shimiao Dai, Yao Li, Miaomiao Ma, Ming Chu, ZhiQiang Lin
, Litao Sun
, Ji-Chang Zhou
DOI: 10.12659/AJCR.947400
Am J Case Rep 2025; 26:e947400
1022 2651 0

23 Aug 2025 : Case report
Management of Cardiac Tamponade During Systemic Lupus Erythematosus Flare with Significant Pericardial Effusion: A Case Report
Adam D. Walsh
, Mitchell T. Carroll
DOI: 10.12659/AJCR.947859
Am J Case Rep 2025; 26:e947859
886 3,729 0

23 Aug 2025 : Case report
Management of Cardiac Tamponade During Systemic Lupus Erythematosus Flare with Significant Pericardial Effusion: A Case Report
Adam D. Walsh
, Mitchell T. Carroll
DOI: 10.12659/AJCR.947859
Am J Case Rep 2025; 26:e947859
886 3729 0

20 Aug 2025 : Case report
Uncommon Ileo-Cecal Intussusception in Adults: A Case Report of Diagnosis and Management
Yembu Ngwengi
, Christian Beugheum, Christian Ottou, Benjamin Freddy Mindjeme, Jacqueline Soh, Roger Ngoulla
DOI: 10.12659/AJCR.946853
Am J Case Rep 2025; 26:e946853
842 1,741 0

20 Aug 2025 : Case report
Uncommon Ileo-Cecal Intussusception in Adults: A Case Report of Diagnosis and Management
Yembu Ngwengi
, Christian Beugheum, Christian Ottou, Benjamin Freddy Mindjeme, Jacqueline Soh, Roger Ngoulla
DOI: 10.12659/AJCR.946853
Am J Case Rep 2025; 26:e946853
842 1741 0

18 Aug 2025 : Case report
Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report
Dominik Krupka
, Katarzyna Rakoczy
, Adam Chełmoński
, Michał Zakliczyński
, Roman Przybylski
, Mateusz Sokolski
DOI: 10.12659/AJCR.947439
Am J Case Rep 2025; 26:e947439
813 1,463 0

18 Aug 2025 : Case report
Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report
Dominik Krupka
, Katarzyna Rakoczy
, Adam Chełmoński
, Michał Zakliczyński
, Roman Przybylski
, Mateusz Sokolski
DOI: 10.12659/AJCR.947439
Am J Case Rep 2025; 26:e947439
813 1463 0

15 Aug 2025 : Case report
HELLP Syndrome with Hepatic and Thoracic Complications: Insights From a Case of Spontaneous Liver Rupture
Sanqiang Niu, Kangjun Yu, Yayun Cheng, Ning Liu
DOI: 10.12659/AJCR.949380
Am J Case Rep 2025; 26:e949380
695 2,375 0

15 Aug 2025 : Case report
HELLP Syndrome with Hepatic and Thoracic Complications: Insights From a Case of Spontaneous Liver Rupture
Sanqiang Niu, Kangjun Yu, Yayun Cheng, Ning Liu
DOI: 10.12659/AJCR.949380
Am J Case Rep 2025; 26:e949380
695 2375 0

14 Aug 2025 : Case report
A 66-Year-Old Man with Intrapleural Leakage of Parenteral Nutrition Fluid Due to a Malpositioned Central Venous Catheter
Jakob Van Herck, Wouter Snoeck, Marc Vanhoof, Helena Van Damme, Lynn Decoster
DOI: 10.12659/AJCR.948181
Am J Case Rep 2025; 26:e948181
1,562 1,563 0

14 Aug 2025 : Case report
A 66-Year-Old Man with Intrapleural Leakage of Parenteral Nutrition Fluid Due to a Malpositioned Central Venous Catheter
Jakob Van Herck, Wouter Snoeck, Marc Vanhoof, Helena Van Damme, Lynn Decoster
DOI: 10.12659/AJCR.948181
Am J Case Rep 2025; 26:e948181
1562 1563 0

13 Aug 2025 : Case report
Pulmonic Valve Endocarditis and Septic Pulmonary Embolism Caused by Staphylococcus haemolyticus: A Case Study
Sneh Parekh
, Guillermo Loyola, Ricardo A. Caldas, Hamza Choudhry, Emma M. Griffith
DOI: 10.12659/AJCR.948820
Am J Case Rep 2025; 26:e948820
802 2,315 0

13 Aug 2025 : Case report
Pulmonic Valve Endocarditis and Septic Pulmonary Embolism Caused by Staphylococcus haemolyticus: A Case Study
Sneh Parekh
, Guillermo Loyola, Ricardo A. Caldas, Hamza Choudhry, Emma M. Griffith
DOI: 10.12659/AJCR.948820
Am J Case Rep 2025; 26:e948820
802 2315 0

11 Aug 2025 : Case report
Clinical Management Strategies for Severe Fever with Thrombocytopenia Syndrome Induced by Tick Bites: A Case Report and Literature Review
Yingwei Ding, Laifa Kong
DOI: 10.12659/AJCR.948078
Am J Case Rep 2025; 26:e948078
1,232 3,780 0

11 Aug 2025 : Case report
Clinical Management Strategies for Severe Fever with Thrombocytopenia Syndrome Induced by Tick Bites: A Case Report and Literature Review
Yingwei Ding, Laifa Kong
DOI: 10.12659/AJCR.948078
Am J Case Rep 2025; 26:e948078
1232 3780 0

10 Aug 2025 : Case report
Disseminated Blastomycosis: A Case of Multisite Infection in an Immunocompetent Patient
Vishnu Teja Kommineni
, Joshua J. Jagodzinski, Emilia Elena Petcu, Celestine Odenigbo, Rathnamitreyee Vegunta
, Igor Dumic
DOI: 10.12659/AJCR.949647
Am J Case Rep 2025; 26:e949647
1,125 1,710 0

10 Aug 2025 : Case report
Disseminated Blastomycosis: A Case of Multisite Infection in an Immunocompetent Patient
Vishnu Teja Kommineni
, Joshua J. Jagodzinski, Emilia Elena Petcu, Celestine Odenigbo, Rathnamitreyee Vegunta
, Igor Dumic
DOI: 10.12659/AJCR.949647
Am J Case Rep 2025; 26:e949647
1125 1710 0

09 Aug 2025 : Case report
Primary Adrenal Lymphoma Diagnosed by Endoscopic Ultrasound Fine-Needle Aspiration Biopsy: A Case Report
Yuzheng Zhao, Ning Chen
DOI: 10.12659/AJCR.948833
Am J Case Rep 2025; 26:e948833
931 1,355 0

09 Aug 2025 : Case report
Primary Adrenal Lymphoma Diagnosed by Endoscopic Ultrasound Fine-Needle Aspiration Biopsy: A Case Report
Yuzheng Zhao, Ning Chen
DOI: 10.12659/AJCR.948833
Am J Case Rep 2025; 26:e948833
931 1355 0

06 Aug 2025 : Case report
Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing
Yuting Shen, Caihong Liu, Wei Wei, Yongxiu Huang
, Qian Zhu, Yuliang Zhao
DOI: 10.12659/AJCR.947287
Am J Case Rep 2025; 26:e947287
1,093 1,355 0

06 Aug 2025 : Case report
Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing
Yuting Shen, Caihong Liu, Wei Wei, Yongxiu Huang
, Qian Zhu, Yuliang Zhao
DOI: 10.12659/AJCR.947287
Am J Case Rep 2025; 26:e947287
1093 1355 0

04 Aug 2025 : Case report
Visceral Arterial Thrombosis Linked to Long-Term Oral Contraceptives and Smoking: A Case Report
Laura Leci Tahiri, Valdete Haxhibeqiri
DOI: 10.12659/AJCR.948398
Am J Case Rep 2025; 26:e948398
1,033 1,774 0

04 Aug 2025 : Case report
Visceral Arterial Thrombosis Linked to Long-Term Oral Contraceptives and Smoking: A Case Report
Laura Leci Tahiri, Valdete Haxhibeqiri
DOI: 10.12659/AJCR.948398
Am J Case Rep 2025; 26:e948398
1033 1774 0

30 Jul 2025 : Case report
Successful Management of Severe Refractory ARDS in Hemophagocytic Lymphohistiocytosis with VV-ECMO: A Case Report and Analysis
Mengqi Guan, Yan Qian, Zihua Tang, Yingya Cao, Xiaogan Jiang, Weihua Lu, Qiancheng Xu
DOI: 10.12659/AJCR.949154
Am J Case Rep 2025; 26:e949154
1,267 2,165 0

30 Jul 2025 : Case report
Successful Management of Severe Refractory ARDS in Hemophagocytic Lymphohistiocytosis with VV-ECMO: A Case Report and Analysis
Mengqi Guan, Yan Qian, Zihua Tang, Yingya Cao, Xiaogan Jiang, Weihua Lu, Qiancheng Xu
DOI: 10.12659/AJCR.949154
Am J Case Rep 2025; 26:e949154
1267 2165 0

24 Jul 2025 : Case report
Ectopic Adrenocortical Adenoma Causing Malignant Hypertension and Hypokalemia
Xiaoyong Hu
, Djandan Tadum Arthur Vithran
, Zhaoying Yang, Hongjian Li
DOI: 10.12659/AJCR.948022
Am J Case Rep 2025; 26:e948022
1,546 4,258 0

24 Jul 2025 : Case report
Ectopic Adrenocortical Adenoma Causing Malignant Hypertension and Hypokalemia
Xiaoyong Hu
, Djandan Tadum Arthur Vithran
, Zhaoying Yang, Hongjian Li
DOI: 10.12659/AJCR.948022
Am J Case Rep 2025; 26:e948022
1546 4258 0

23 Jul 2025 : Case report
Percutaneous Closure of an Ischemic Ventricular Septal Rupture in a 73-Year-Old Man: A Case Report
Carlos Andres Mejia-Gomez
, Paula Andrea Cardenas Marin
, Maria Juliana Reyes-Cardona
, Miller Giraldo-Sandoval
, Camilo Andres Calderon-Miranda
, Jorge Alexander Zambrano-Franco
, Pastor Olaya
, Jairo Sanchez-Blanco
, Carlos Enrique Vesga-Reyes
DOI: 10.12659/AJCR.947065
Am J Case Rep 2025; 26:e947065
1,127 1,956 0

23 Jul 2025 : Case report
Percutaneous Closure of an Ischemic Ventricular Septal Rupture in a 73-Year-Old Man: A Case Report
Carlos Andres Mejia-Gomez
, Paula Andrea Cardenas Marin
, Maria Juliana Reyes-Cardona
, Miller Giraldo-Sandoval
, Camilo Andres Calderon-Miranda
, Jorge Alexander Zambrano-Franco
, Pastor Olaya
, Jairo Sanchez-Blanco
, Carlos Enrique Vesga-Reyes
DOI: 10.12659/AJCR.947065
Am J Case Rep 2025; 26:e947065
1127 1956 0

21 Jul 2025 : Case report
Diagnosing Disseminated Peritoneal Leiomyomatosis: Malignancy-Like Presentation in a 59-Year-Old Woman
Changchao Xiao, Haixing Ju, Jun Cao
DOI: 10.12659/AJCR.947246
Am J Case Rep 2025; 26:e947246
986 2,576 0

21 Jul 2025 : Case report
Diagnosing Disseminated Peritoneal Leiomyomatosis: Malignancy-Like Presentation in a 59-Year-Old Woman
Changchao Xiao, Haixing Ju, Jun Cao
DOI: 10.12659/AJCR.947246
Am J Case Rep 2025; 26:e947246
986 2576 0

19 Jul 2025 : Case report
Adult Hemophagocytic Lymphohistiocytosis (HLH) with Neurological Involvement: Diagnostic Complexities – A Case Report and Literature Review
Michał J. Sekuła
, Anna Jamroz-Wiśniewska
, Urszula Chyrchel-Paszkiewicz
, Aleksandra Pietruczuk
, Aleksandra Dembowska
, Maciej Dubaj
, Karol Bigosiński
, Konrad Rejdak
DOI: 10.12659/AJCR.947694
Am J Case Rep 2025; 26:e947694
1,853 2,835 0

19 Jul 2025 : Case report
Adult Hemophagocytic Lymphohistiocytosis (HLH) with Neurological Involvement: Diagnostic Complexities – A Case Report and Literature Review
Michał J. Sekuła
, Anna Jamroz-Wiśniewska
, Urszula Chyrchel-Paszkiewicz
, Aleksandra Pietruczuk
, Aleksandra Dembowska
, Maciej Dubaj
, Karol Bigosiński
, Konrad Rejdak
DOI: 10.12659/AJCR.947694
Am J Case Rep 2025; 26:e947694
1853 2835 0

18 Jul 2025 : Case report
An 88-Year-Old Woman with a 33-Year History of Idiopathic Portal Hypertension Presenting with Hepatocellular Carcinoma Treated with Carbon-Ion Radiotherapy
Akira Sato, Reiko Kumano, Yasushi Ariizumi, Nobuyuki Matsumoto
DOI: 10.12659/AJCR.947725
Am J Case Rep 2025; 26:e947725
1,215 2,000 0

18 Jul 2025 : Case report
An 88-Year-Old Woman with a 33-Year History of Idiopathic Portal Hypertension Presenting with Hepatocellular Carcinoma Treated with Carbon-Ion Radiotherapy
Akira Sato, Reiko Kumano, Yasushi Ariizumi, Nobuyuki Matsumoto
DOI: 10.12659/AJCR.947725
Am J Case Rep 2025; 26:e947725
1215 2000 0

16 Jul 2025 : Case report
Endovascular Embolization in Acquired Hemophilia A: A Case Study Highlighting Diagnostic and Therapeutic Strategies
Michail Makris, Stavroula Bountola, Vasileios Patriarcheas, Anastasia Adamou
, Panagiota Tsiatsiou
, Vasileios Perifanis
, Christos Savopoulos, Georgia Kaiafa
DOI: 10.12659/AJCR.948268
Am J Case Rep 2025; 26:e948268
1,149 1,994 0

16 Jul 2025 : Case report
Endovascular Embolization in Acquired Hemophilia A: A Case Study Highlighting Diagnostic and Therapeutic Strategies
Michail Makris, Stavroula Bountola, Vasileios Patriarcheas, Anastasia Adamou
, Panagiota Tsiatsiou
, Vasileios Perifanis
, Christos Savopoulos, Georgia Kaiafa
DOI: 10.12659/AJCR.948268
Am J Case Rep 2025; 26:e948268
1149 1994 0

13 Jul 2025 : Case report
Adult Acute Appendicitis Complicated by Intestinal Malrotation: A Case Analysis
Daniel Krstic
, Dimitrios Chatziisaak
, Strahinja Konstantinović
, Luca Benigno, Christopher Soll, Magdalena Biraima
DOI: 10.12659/AJCR.949194
Am J Case Rep 2025; 26:e949194
1,091 2,554 0

13 Jul 2025 : Case report
Adult Acute Appendicitis Complicated by Intestinal Malrotation: A Case Analysis
Daniel Krstic
, Dimitrios Chatziisaak
, Strahinja Konstantinović
, Luca Benigno, Christopher Soll, Magdalena Biraima
DOI: 10.12659/AJCR.949194
Am J Case Rep 2025; 26:e949194
1091 2554 0

12 Jul 2025 : Case report
HIV-Negative African American Man with Gastrointestinal Kaposi Sarcoma Associated with Adalimumab Treatment for Cardiac Sarcoidosis: A Case Report
Vaishnavi Ghantasala, Aadi Palvia, Abhiram Rao Damera, Marcela Salomao, Lucinda A. Harris, Jana G. Hashash, Karthik Gnanapandithan
DOI: 10.12659/AJCR.947163
Am J Case Rep 2025; 26:e947163
1,092 2,119 0

12 Jul 2025 : Case report
HIV-Negative African American Man with Gastrointestinal Kaposi Sarcoma Associated with Adalimumab Treatment for Cardiac Sarcoidosis: A Case Report
Vaishnavi Ghantasala, Aadi Palvia, Abhiram Rao Damera, Marcela Salomao, Lucinda A. Harris, Jana G. Hashash, Karthik Gnanapandithan
DOI: 10.12659/AJCR.947163
Am J Case Rep 2025; 26:e947163
1092 2119 0

11 Jul 2025 : Case report
Term Pregnancy in Herlyn-Werner-Wunderlich Syndrome: Successful Management of Congenital Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA)
Norah Alqntash
, Ebtesam Almajed
, Kayan Alotaibi, Mashael Alshahrani, Yara Arfaj, Rawda Albahyan
DOI: 10.12659/AJCR.947938
Am J Case Rep 2025; 26:e947938
918 2,231 0

11 Jul 2025 : Case report
Term Pregnancy in Herlyn-Werner-Wunderlich Syndrome: Successful Management of Congenital Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA)
Norah Alqntash
, Ebtesam Almajed
, Kayan Alotaibi, Mashael Alshahrani, Yara Arfaj, Rawda Albahyan
DOI: 10.12659/AJCR.947938
Am J Case Rep 2025; 26:e947938
918 2231 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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