Rare disease

11 Jan 2026 : Case report
Giant Uterine Fibroid Complicated by Abnormal Erythrocytosis in a 33-Year-Old Woman: A Case Report
Xia Nong, Hu Li, Yuxia Wang
DOI: 10.12659/AJCR.950288
Am J Case Rep 2026; 27:e950288
891 3,340 0

11 Jan 2026 : Case report
Giant Uterine Fibroid Complicated by Abnormal Erythrocytosis in a 33-Year-Old Woman: A Case Report
Xia Nong, Hu Li, Yuxia Wang
DOI: 10.12659/AJCR.950288
Am J Case Rep 2026; 27:e950288
891 3340 0

03 Jan 2026 : Case report
A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report
Ehsan Shahverdi, Petra Mundmann, Christian Pohlkamp, Safae Dirare, Islam Hussein Mohamed, Hüdanur Semerci, Corinna Petz
DOI: 10.12659/AJCR.950181
Am J Case Rep 2026; 27:e950181
1,211 2,716 0

03 Jan 2026 : Case report
A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report
Ehsan Shahverdi, Petra Mundmann, Christian Pohlkamp, Safae Dirare, Islam Hussein Mohamed, Hüdanur Semerci, Corinna Petz
DOI: 10.12659/AJCR.950181
Am J Case Rep 2026; 27:e950181
1211 2716 0

09 Jan 2026 : Case report
Technical Approach to Repair of Tracheogastric Conduit Fistula Following Minimally Invasive Esophagectomy: A Case Report
Wongsakorn Chaochankit
, Srila Samphao, Voravit Chittithavorn, Chutida Sungworawongpana
DOI: 10.12659/AJCR.950499
Am J Case Rep 2026; 27:e950499
922 1,805 0

09 Jan 2026 : Case report
Technical Approach to Repair of Tracheogastric Conduit Fistula Following Minimally Invasive Esophagectomy: A Case Report
Wongsakorn Chaochankit
, Srila Samphao, Voravit Chittithavorn, Chutida Sungworawongpana
DOI: 10.12659/AJCR.950499
Am J Case Rep 2026; 27:e950499
922 1805 0

04 Jan 2026 : Case report
Effective Management of a Rare Case of Pediatric ANCA-Associated Vasculitis With Rituximab and Mycophenolate Mofetil
Yi Fang, Ali Kurady, Faris Q. Hashim, Blaine Berger, Arundhati Rao
DOI: 10.12659/AJCR.949274
Am J Case Rep 2026; 27:e949274
1,042 2,789 0

04 Jan 2026 : Case report
Effective Management of a Rare Case of Pediatric ANCA-Associated Vasculitis With Rituximab and Mycophenolate Mofetil
Yi Fang, Ali Kurady, Faris Q. Hashim, Blaine Berger, Arundhati Rao
DOI: 10.12659/AJCR.949274
Am J Case Rep 2026; 27:e949274
1042 2789 0

08 Jan 2026 : Case report
Diagnostic Challenges in Atypical Hemolytic Uremic Syndrome: A Case of Artificial Mitral Valve Dysfunction as a Possible Trigger for Severe Thrombotic Microangiopathy
Gabriela Kot
, Agata Wróbel
, Błażej Kieszek
, Zbigniew Sablik
, Michał Nowicki
DOI: 10.12659/AJCR.948516
Am J Case Rep 2026; 27:e948516
997 1,510 0

08 Jan 2026 : Case report
Diagnostic Challenges in Atypical Hemolytic Uremic Syndrome: A Case of Artificial Mitral Valve Dysfunction as a Possible Trigger for Severe Thrombotic Microangiopathy
Gabriela Kot
, Agata Wróbel
, Błażej Kieszek
, Zbigniew Sablik
, Michał Nowicki
DOI: 10.12659/AJCR.948516
Am J Case Rep 2026; 27:e948516
997 1510 0

07 Jan 2026 : Case report
Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report
DOI: 10.12659/AJCR.951160
Am J Case Rep 2026; 27:e951160
758 2,023 0

07 Jan 2026 : Case report
Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report
DOI: 10.12659/AJCR.951160
Am J Case Rep 2026; 27:e951160
758 2023 0

07 Jan 2026 : Case report
Endoscopic-Assisted Excision of Parotid Castleman Disease in Pediatric Patients: A Case Series of Three Patients and a Literature Review
Wenli Wu
, Ping Xu, Jiawei Lin, Wenqin Lian, Fan Li
DOI: 10.12659/AJCR.950918
Am J Case Rep 2026; 27:e950918
843 1,311 0

07 Jan 2026 : Case report
Endoscopic-Assisted Excision of Parotid Castleman Disease in Pediatric Patients: A Case Series of Three Patients and a Literature Review
Wenli Wu
, Ping Xu, Jiawei Lin, Wenqin Lian, Fan Li
DOI: 10.12659/AJCR.950918
Am J Case Rep 2026; 27:e950918
843 1311 0

01 Jan 2026 : Case report
Twisted Mystery: Identifying Gallbladder Volvulus: Challenges in Preoperative Diagnosis
Yahya Al-Habbal, Ayman M. Al-Qaaneh
, Adnan A. Al Aloul, Sami Lazkani, Afnan Alghnaimat
DOI: 10.12659/AJCR.949283
Am J Case Rep 2026; 27:e949283
1,200 170 0

01 Jan 2026 : Case report
Twisted Mystery: Identifying Gallbladder Volvulus: Challenges in Preoperative Diagnosis
Yahya Al-Habbal, Ayman M. Al-Qaaneh
, Adnan A. Al Aloul, Sami Lazkani, Afnan Alghnaimat
DOI: 10.12659/AJCR.949283
Am J Case Rep 2026; 27:e949283
1200 170 0

04 Jan 2026 : Case report
Peritoneal Post-Radiation Angiosarcoma in a Patient With a History of Radiation for Cervical Cancer
Xuan-Fang Qian, Xia-Wan Wang, He-Qing Yi, Lin-Fa Li
DOI: 10.12659/AJCR.949701
Am J Case Rep 2026; 27:e949701
855 1,355 0

04 Jan 2026 : Case report
Peritoneal Post-Radiation Angiosarcoma in a Patient With a History of Radiation for Cervical Cancer
Xuan-Fang Qian, Xia-Wan Wang, He-Qing Yi, Lin-Fa Li
DOI: 10.12659/AJCR.949701
Am J Case Rep 2026; 27:e949701
855 1355 0

23 Dec 2025 : Case report
Low-Grade Appendiceal Mucinous Neoplasm as an Incidental Finding During Cesarean Section: A Case Report
Vesna Paunovic
, Tomislav Paunovic, Aleksa Jokic
, Bojana S. Ivic
, Aleksandra Petrovic, Nina Pejic
, Milos Stulic
, Jelena Martinov Nestorov, Jovan Jevtic
, Zeljko Vlaisavljevic
DOI: 10.12659/AJCR.949554
Am J Case Rep 2025; 26:e949554
1,126 2,568 0

23 Dec 2025 : Case report
Low-Grade Appendiceal Mucinous Neoplasm as an Incidental Finding During Cesarean Section: A Case Report
Vesna Paunovic
, Tomislav Paunovic, Aleksa Jokic
, Bojana S. Ivic
, Aleksandra Petrovic, Nina Pejic
, Milos Stulic
, Jelena Martinov Nestorov, Jovan Jevtic
, Zeljko Vlaisavljevic
DOI: 10.12659/AJCR.949554
Am J Case Rep 2025; 26:e949554
1126 2568 0

26 Dec 2025 : Case report
Primary Well-Differentiated Neuroendocrine Tumor of the Breast: A Case Report and Literature Review
Sanjna Sai Gudena, Nilesh Digvijay Kashikar, Matthew Charles Wakefield
DOI: 10.12659/AJCR.950684
Am J Case Rep 2025; 26:e950684
837 2,700 0

26 Dec 2025 : Case report
Primary Well-Differentiated Neuroendocrine Tumor of the Breast: A Case Report and Literature Review
Sanjna Sai Gudena, Nilesh Digvijay Kashikar, Matthew Charles Wakefield
DOI: 10.12659/AJCR.950684
Am J Case Rep 2025; 26:e950684
837 2700 0

27 Dec 2025 : Case report
In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1
Rocco Bruno
, Sarah Donatelli, Leonardo Mastropasqua
, Mario Nubile
DOI: 10.12659/AJCR.949591
Am J Case Rep 2025; 26:e949591
789 1,253 0

27 Dec 2025 : Case report
In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1
Rocco Bruno
, Sarah Donatelli, Leonardo Mastropasqua
, Mario Nubile
DOI: 10.12659/AJCR.949591
Am J Case Rep 2025; 26:e949591
789 1253 0

25 Nov 2025 : Case report
Treatment of Pathological Femoral Fractures Caused by Fibrous Dysplasia Using the Bridging Combination Internal Fixation System: A Case Report
Liang Zhao, Qiao Yuan, Juncheng Shen, Xuzhou Zheng, Junwu Ye
DOI: 10.12659/AJCR.950556
Am J Case Rep 2025; 26:e950556
767 2,003 0

25 Nov 2025 : Case report
Treatment of Pathological Femoral Fractures Caused by Fibrous Dysplasia Using the Bridging Combination Internal Fixation System: A Case Report
Liang Zhao, Qiao Yuan, Juncheng Shen, Xuzhou Zheng, Junwu Ye
DOI: 10.12659/AJCR.950556
Am J Case Rep 2025; 26:e950556
767 2003 0

24 Dec 2025 : Case report
Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report
Alexandra Arvanitaki
, Marios Georgios Bantidos
, Theodora Zaglavara
, Lydia Kalogeropoulou
, Athanasios Samaras
, Athina Nasoufidou
, Efstratios Karagiannidis
, Georgios Stavropoulos
, Apostolos Tzikas
, Nikolaos Fragakis
DOI: 10.12659/AJCR.949879
Am J Case Rep 2025; 26:e949879
873 1,547 0

24 Dec 2025 : Case report
Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report
Alexandra Arvanitaki
, Marios Georgios Bantidos
, Theodora Zaglavara
, Lydia Kalogeropoulou
, Athanasios Samaras
, Athina Nasoufidou
, Efstratios Karagiannidis
, Georgios Stavropoulos
, Apostolos Tzikas
, Nikolaos Fragakis
DOI: 10.12659/AJCR.949879
Am J Case Rep 2025; 26:e949879
873 1547 0

29 Dec 2025 : Case report
Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights
Shu Liu, Wei Lu, Lin Yang, Xiubin Tong, Xiu Xu, Huiping Li
DOI: 10.12659/AJCR.950967
Am J Case Rep 2025; 26:e950967
836 1,553 0

29 Dec 2025 : Case report
Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights
Shu Liu, Wei Lu, Lin Yang, Xiubin Tong, Xiu Xu, Huiping Li
DOI: 10.12659/AJCR.950967
Am J Case Rep 2025; 26:e950967
836 1553 0

27 Dec 2025 : Case report
ANCA-Negative Eosinophilic Granulomatosis With Polyangiitis Presenting With Duodenal Stenosis: A Case Report
Jiajia Chen, Jiajun Liu, Min Luo, Jiguang Guo
DOI: 10.12659/AJCR.951493
Am J Case Rep 2025; 26:e951493
737 2,397 0

27 Dec 2025 : Case report
ANCA-Negative Eosinophilic Granulomatosis With Polyangiitis Presenting With Duodenal Stenosis: A Case Report
Jiajia Chen, Jiajun Liu, Min Luo, Jiguang Guo
DOI: 10.12659/AJCR.951493
Am J Case Rep 2025; 26:e951493
737 2397 0

25 Dec 2025 : Case report
Guillain-Barré Syndrome in the Third Trimester of Pregnancy: A Case Report and Literature Review
Liang Gao, Mouchang Qiu, Hua Qian
DOI: 10.12659/AJCR.949852
Am J Case Rep 2025; 26:e949852
893 1,970 0

25 Dec 2025 : Case report
Guillain-Barré Syndrome in the Third Trimester of Pregnancy: A Case Report and Literature Review
Liang Gao, Mouchang Qiu, Hua Qian
DOI: 10.12659/AJCR.949852
Am J Case Rep 2025; 26:e949852
893 1970 0

24 Dec 2025 : Case report
Conception After Chemotherapy for Intraplacental Choriocarcinoma: Favorable 5-Year Follow-Up of the Mother and Child
Tomoo Suzuki, Masanori Ono
, Junya Kojima, Yoshinari Imai, Takeshi Nagai, Atsushi Suzuki, Naoaki Kuji
, Hirotaka Nishi
DOI: 10.12659/AJCR.950426
Am J Case Rep 2025; 26:e950426
1,038 2,248 0

24 Dec 2025 : Case report
Conception After Chemotherapy for Intraplacental Choriocarcinoma: Favorable 5-Year Follow-Up of the Mother and Child
Tomoo Suzuki, Masanori Ono
, Junya Kojima, Yoshinari Imai, Takeshi Nagai, Atsushi Suzuki, Naoaki Kuji
, Hirotaka Nishi
DOI: 10.12659/AJCR.950426
Am J Case Rep 2025; 26:e950426
1038 2248 0

17 Dec 2025 : Case report
COVID-19-Associated MDA5-Mediated Necrotizing Myositis
Sarah Steadman, Amit Sikder, Harsh R. Desai
, Bradley Collins
, Tiffany Baker, Julie Worthington
DOI: 10.12659/AJCR.949788
Am J Case Rep 2025; 26:e949788
1,504 3,181 0

17 Dec 2025 : Case report
COVID-19-Associated MDA5-Mediated Necrotizing Myositis
Sarah Steadman, Amit Sikder, Harsh R. Desai
, Bradley Collins
, Tiffany Baker, Julie Worthington
DOI: 10.12659/AJCR.949788
Am J Case Rep 2025; 26:e949788
1504 3181 0

23 Dec 2025 : Case report
Platypnea-Orthodeoxia Syndrome Associated With a Right-to-Left Cardiac Shunt Detected by Lung Perfusion Scintigraphy
Yusuke Nakano
, Hirohiko Ando, Akinori Satake, Reiji Goto, Kentaro Mukai, Tetsuya Amano
DOI: 10.12659/AJCR.949642
Am J Case Rep 2025; 26:e949642
868 1,890 0

23 Dec 2025 : Case report
Platypnea-Orthodeoxia Syndrome Associated With a Right-to-Left Cardiac Shunt Detected by Lung Perfusion Scintigraphy
Yusuke Nakano
, Hirohiko Ando, Akinori Satake, Reiji Goto, Kentaro Mukai, Tetsuya Amano
DOI: 10.12659/AJCR.949642
Am J Case Rep 2025; 26:e949642
868 1890 0

22 Dec 2025 : Case report
Asymptomatic Lung Adenocarcinoma With Cardiac Metastasis at Initial Diagnosis: A Case Report
Tianyu Jin, Yongzhong Jiang, Yong Song
DOI: 10.12659/AJCR.951223
Am J Case Rep 2025; 26:e951223
937 2,753 0

22 Dec 2025 : Case report
Asymptomatic Lung Adenocarcinoma With Cardiac Metastasis at Initial Diagnosis: A Case Report
Tianyu Jin, Yongzhong Jiang, Yong Song
DOI: 10.12659/AJCR.951223
Am J Case Rep 2025; 26:e951223
937 2753 0

17 Dec 2025 : Case report
Splenic Hamartoma Diagnosed and Treated by Laparoscopic Splenectomy Associated With a Minimal Suprapubic Approach
Hikaru Ohtani, Tomohide Hori, Shigeki Nakayama, Satoru Umegae, Takao Iwanaga, Ryutaro Nishikawa, Takahiro Shimoyama, Sakurako Suzuki, Shigehito Nakashima, Takayuki Yamamoto
DOI: 10.12659/AJCR.950597
Am J Case Rep 2025; 26:e950597
809 1,404 0

17 Dec 2025 : Case report
Splenic Hamartoma Diagnosed and Treated by Laparoscopic Splenectomy Associated With a Minimal Suprapubic Approach
Hikaru Ohtani, Tomohide Hori, Shigeki Nakayama, Satoru Umegae, Takao Iwanaga, Ryutaro Nishikawa, Takahiro Shimoyama, Sakurako Suzuki, Shigehito Nakashima, Takayuki Yamamoto
DOI: 10.12659/AJCR.950597
Am J Case Rep 2025; 26:e950597
809 1404 0

15 Dec 2025 : Case report
Primary Pulmonary Osteosarcoma Presenting as a 1.7-cm Subpleural Nodule in a 61-Year-Old Man: A Case Report
Xin Yang, Wen Guang Zhao, Chao Gao, Sheng Lin
DOI: 10.12659/AJCR.949034
Am J Case Rep 2025; 26:e949034
908 1,255 0

15 Dec 2025 : Case report
Primary Pulmonary Osteosarcoma Presenting as a 1.7-cm Subpleural Nodule in a 61-Year-Old Man: A Case Report
Xin Yang, Wen Guang Zhao, Chao Gao, Sheng Lin
DOI: 10.12659/AJCR.949034
Am J Case Rep 2025; 26:e949034
908 1255 0

12 Dec 2025 : Case report
Unpredictable Evolution of Pilocytic Astrocytoma in Adults: A Case Series and Diagnostic Challenges
Anamaria Sincu, Cristian-Ionut Orasanu
, Raluca Ioana Voda
, Madalina Bosoteanu
, Manuela Enciu
, Sorin Vamesu
, Sinziana Andra Ghitoi, Mariana Deacu
DOI: 10.12659/AJCR.947774
Am J Case Rep 2025; 26:e947774
1,130 5,517 0

12 Dec 2025 : Case report
Unpredictable Evolution of Pilocytic Astrocytoma in Adults: A Case Series and Diagnostic Challenges
Anamaria Sincu, Cristian-Ionut Orasanu
, Raluca Ioana Voda
, Madalina Bosoteanu
, Manuela Enciu
, Sorin Vamesu
, Sinziana Andra Ghitoi, Mariana Deacu
DOI: 10.12659/AJCR.947774
Am J Case Rep 2025; 26:e947774
1130 5517 0

14 Dec 2025 : Case report
Bruton’s Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia
Ahmed Shamakhi, Nabil Dhayhi, Shatha Matabi, Manal Maashi, Abdullah Dhaifallah Hamdi, Bander Ali, Fadhel Hazazi, Abdullah H. Alhamoud
DOI: 10.12659/AJCR.949936
Am J Case Rep 2025; 26:e949936
1,256 3,854 0

14 Dec 2025 : Case report
Bruton’s Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia
Ahmed Shamakhi, Nabil Dhayhi, Shatha Matabi, Manal Maashi, Abdullah Dhaifallah Hamdi, Bander Ali, Fadhel Hazazi, Abdullah H. Alhamoud
DOI: 10.12659/AJCR.949936
Am J Case Rep 2025; 26:e949936
1256 3854 0
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954163
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954178
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954110
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953469
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