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
597 1,771 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
597 1771 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
879 1,759 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
879 1759 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
578 953 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
578 953 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
776 1,751 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
776 1751 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
677 861 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
677 861 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
509 1,034 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
509 1034 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
540 779 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
540 779 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
860 166 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
860 166 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
583 812 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
583 812 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
752 1,613 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
752 1613 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
578 1,342 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
578 1342 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
539 786 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
539 786 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
484 1,155 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
484 1155 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
584 924 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
584 924 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
515 902 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
515 902 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
516 1,656 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
516 1656 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
652 1,194 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
652 1194 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
774 1,239 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
774 1239 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
1,076 1,988 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
1076 1988 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
612 1,172 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
612 1172 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
667 1,517 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
667 1517 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
597 879 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
597 879 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
681 811 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
681 811 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
854 3,303 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
854 3303 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
879 2,256 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
879 2256 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.949976
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950290
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950607
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950985
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