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Rare disease

#950288

11 Jan 2026 : Case report  China

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

#950288

11 Jan 2026 : Case report  China

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

#950181

03 Jan 2026 : Case report  Germany

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

#950181

03 Jan 2026 : Case report  Germany

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

#950499

09 Jan 2026 : Case report  Thailand

Technical Approach to Repair of Tracheogastric Conduit Fistula Following Minimally Invasive Esophagectomy: A Case Report

Wongsakorn Chaochankit ORCID logo, Srila Samphao, Voravit Chittithavorn, Chutida Sungworawongpana

DOI: 10.12659/AJCR.950499

Am J Case Rep 2026; 27:e950499

922 1,805 0

#950499

09 Jan 2026 : Case report  Thailand

Technical Approach to Repair of Tracheogastric Conduit Fistula Following Minimally Invasive Esophagectomy: A Case Report

Wongsakorn Chaochankit ORCID logo, Srila Samphao, Voravit Chittithavorn, Chutida Sungworawongpana

DOI: 10.12659/AJCR.950499

Am J Case Rep 2026; 27:e950499

922 1805 0

#949274

04 Jan 2026 : Case report  USA

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

#949274

04 Jan 2026 : Case report  USA

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

#948516

08 Jan 2026 : Case report  Poland

Diagnostic Challenges in Atypical Hemolytic Uremic Syndrome: A Case of Artificial Mitral Valve Dysfunction as a Possible Trigger for Severe Thrombotic Microangiopathy

Gabriela Kot ORCID logo, Agata Wróbel ORCID logo, Błażej Kieszek ORCID logo, Zbigniew Sablik ORCID logo, Michał Nowicki ORCID logo

DOI: 10.12659/AJCR.948516

Am J Case Rep 2026; 27:e948516

997 1,510 0

#948516

08 Jan 2026 : Case report  Poland

Diagnostic Challenges in Atypical Hemolytic Uremic Syndrome: A Case of Artificial Mitral Valve Dysfunction as a Possible Trigger for Severe Thrombotic Microangiopathy

Gabriela Kot ORCID logo, Agata Wróbel ORCID logo, Błażej Kieszek ORCID logo, Zbigniew Sablik ORCID logo, Michał Nowicki ORCID logo

DOI: 10.12659/AJCR.948516

Am J Case Rep 2026; 27:e948516

997 1510 0

#951160

07 Jan 2026 : Case report  Austria

Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report

Josef Finsterer ORCID logo

DOI: 10.12659/AJCR.951160

Am J Case Rep 2026; 27:e951160

758 2,023 0

#951160

07 Jan 2026 : Case report  Austria

Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report

Josef Finsterer ORCID logo

DOI: 10.12659/AJCR.951160

Am J Case Rep 2026; 27:e951160

758 2023 0

#950918

07 Jan 2026 : Case report  China

Endoscopic-Assisted Excision of Parotid Castleman Disease in Pediatric Patients: A Case Series of Three Patients and a Literature Review

Wenli Wu ORCID logo, Ping Xu, Jiawei Lin, Wenqin Lian, Fan Li

DOI: 10.12659/AJCR.950918

Am J Case Rep 2026; 27:e950918

843 1,311 0

#950918

07 Jan 2026 : Case report  China

Endoscopic-Assisted Excision of Parotid Castleman Disease in Pediatric Patients: A Case Series of Three Patients and a Literature Review

Wenli Wu ORCID logo, Ping Xu, Jiawei Lin, Wenqin Lian, Fan Li

DOI: 10.12659/AJCR.950918

Am J Case Rep 2026; 27:e950918

843 1311 0

#949283

01 Jan 2026 : Case report  Australia

Twisted Mystery: Identifying Gallbladder Volvulus: Challenges in Preoperative Diagnosis

Yahya Al-Habbal, Ayman M. Al-Qaaneh ORCID logo, Adnan A. Al Aloul, Sami Lazkani, Afnan Alghnaimat

DOI: 10.12659/AJCR.949283

Am J Case Rep 2026; 27:e949283

1,200 170 0

#949283

01 Jan 2026 : Case report  Australia

Twisted Mystery: Identifying Gallbladder Volvulus: Challenges in Preoperative Diagnosis

Yahya Al-Habbal, Ayman M. Al-Qaaneh ORCID logo, Adnan A. Al Aloul, Sami Lazkani, Afnan Alghnaimat

DOI: 10.12659/AJCR.949283

Am J Case Rep 2026; 27:e949283

1200 170 0

#949701

04 Jan 2026 : Case report  China

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

#949701

04 Jan 2026 : Case report  China

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

#949554

23 Dec 2025 : Case report  Serbia

Low-Grade Appendiceal Mucinous Neoplasm as an Incidental Finding During Cesarean Section: A Case Report

Vesna Paunovic ORCID logo, Tomislav Paunovic, Aleksa Jokic ORCID logo, Bojana S. Ivic ORCID logo, Aleksandra Petrovic, Nina Pejic ORCID logo, Milos Stulic ORCID logo, Jelena Martinov Nestorov, Jovan Jevtic ORCID logo, Zeljko Vlaisavljevic ORCID logo

DOI: 10.12659/AJCR.949554

Am J Case Rep 2025; 26:e949554

1,126 2,568 0

#949554

23 Dec 2025 : Case report  Serbia

Low-Grade Appendiceal Mucinous Neoplasm as an Incidental Finding During Cesarean Section: A Case Report

Vesna Paunovic ORCID logo, Tomislav Paunovic, Aleksa Jokic ORCID logo, Bojana S. Ivic ORCID logo, Aleksandra Petrovic, Nina Pejic ORCID logo, Milos Stulic ORCID logo, Jelena Martinov Nestorov, Jovan Jevtic ORCID logo, Zeljko Vlaisavljevic ORCID logo

DOI: 10.12659/AJCR.949554

Am J Case Rep 2025; 26:e949554

1126 2568 0

#950684

26 Dec 2025 : Case report  USA

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

#950684

26 Dec 2025 : Case report  USA

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

#949591

27 Dec 2025 : Case report  Italy

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1

Rocco Bruno ORCID logo, Sarah Donatelli, Leonardo Mastropasqua ORCID logo, Mario Nubile

DOI: 10.12659/AJCR.949591

Am J Case Rep 2025; 26:e949591

789 1,253 0

#949591

27 Dec 2025 : Case report  Italy

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1

Rocco Bruno ORCID logo, Sarah Donatelli, Leonardo Mastropasqua ORCID logo, Mario Nubile

DOI: 10.12659/AJCR.949591

Am J Case Rep 2025; 26:e949591

789 1253 0

#950556

25 Nov 2025 : Case report  China

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

#950556

25 Nov 2025 : Case report  China

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

#949879

24 Dec 2025 : Case report  Greece

Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report

Alexandra Arvanitaki ORCID logo, Marios Georgios Bantidos ORCID logo, Theodora Zaglavara ORCID logo, Lydia Kalogeropoulou ORCID logo, Athanasios Samaras ORCID logo, Athina Nasoufidou ORCID logo, Efstratios Karagiannidis ORCID logo, Georgios Stavropoulos ORCID logo, Apostolos Tzikas ORCID logo, Nikolaos Fragakis ORCID logo

DOI: 10.12659/AJCR.949879

Am J Case Rep 2025; 26:e949879

873 1,547 0

#949879

24 Dec 2025 : Case report  Greece

Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report

Alexandra Arvanitaki ORCID logo, Marios Georgios Bantidos ORCID logo, Theodora Zaglavara ORCID logo, Lydia Kalogeropoulou ORCID logo, Athanasios Samaras ORCID logo, Athina Nasoufidou ORCID logo, Efstratios Karagiannidis ORCID logo, Georgios Stavropoulos ORCID logo, Apostolos Tzikas ORCID logo, Nikolaos Fragakis ORCID logo

DOI: 10.12659/AJCR.949879

Am J Case Rep 2025; 26:e949879

873 1547 0

#950967

29 Dec 2025 : Case report  China

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

#950967

29 Dec 2025 : Case report  China

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

#951493

27 Dec 2025 : Case report  China

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

#951493

27 Dec 2025 : Case report  China

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

#949852

25 Dec 2025 : Case report  China

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

#949852

25 Dec 2025 : Case report  China

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

#950426

24 Dec 2025 : Case report  Japan

Conception After Chemotherapy for Intraplacental Choriocarcinoma: Favorable 5-Year Follow-Up of the Mother and Child

Tomoo Suzuki, Masanori Ono ORCID logo, Junya Kojima, Yoshinari Imai, Takeshi Nagai, Atsushi Suzuki, Naoaki Kuji ORCID logo, Hirotaka Nishi ORCID logo

DOI: 10.12659/AJCR.950426

Am J Case Rep 2025; 26:e950426

1,038 2,248 0

#950426

24 Dec 2025 : Case report  Japan

Conception After Chemotherapy for Intraplacental Choriocarcinoma: Favorable 5-Year Follow-Up of the Mother and Child

Tomoo Suzuki, Masanori Ono ORCID logo, Junya Kojima, Yoshinari Imai, Takeshi Nagai, Atsushi Suzuki, Naoaki Kuji ORCID logo, Hirotaka Nishi ORCID logo

DOI: 10.12659/AJCR.950426

Am J Case Rep 2025; 26:e950426

1038 2248 0

#949788

17 Dec 2025 : Case report  USA

COVID-19-Associated MDA5-Mediated Necrotizing Myositis

Sarah Steadman, Amit Sikder, Harsh R. Desai ORCID logo, Bradley Collins ORCID logo, Tiffany Baker, Julie Worthington

DOI: 10.12659/AJCR.949788

Am J Case Rep 2025; 26:e949788

1,504 3,181 0

#949788

17 Dec 2025 : Case report  USA

COVID-19-Associated MDA5-Mediated Necrotizing Myositis

Sarah Steadman, Amit Sikder, Harsh R. Desai ORCID logo, Bradley Collins ORCID logo, Tiffany Baker, Julie Worthington

DOI: 10.12659/AJCR.949788

Am J Case Rep 2025; 26:e949788

1504 3181 0

#949642

23 Dec 2025 : Case report  Japan

Platypnea-Orthodeoxia Syndrome Associated With a Right-to-Left Cardiac Shunt Detected by Lung Perfusion Scintigraphy

Yusuke Nakano ORCID logo, 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

#949642

23 Dec 2025 : Case report  Japan

Platypnea-Orthodeoxia Syndrome Associated With a Right-to-Left Cardiac Shunt Detected by Lung Perfusion Scintigraphy

Yusuke Nakano ORCID logo, 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

#951223

22 Dec 2025 : Case report  China

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

#951223

22 Dec 2025 : Case report  China

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

#950597

17 Dec 2025 : Case report  Japan

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

#950597

17 Dec 2025 : Case report  Japan

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

#949034

15 Dec 2025 : Case report  China

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

#949034

15 Dec 2025 : Case report  China

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

#947774

12 Dec 2025 : Case report  Romania

Unpredictable Evolution of Pilocytic Astrocytoma in Adults: A Case Series and Diagnostic Challenges

Anamaria Sincu, Cristian-Ionut Orasanu ORCID logo, Raluca Ioana Voda ORCID logo, Madalina Bosoteanu ORCID logo, Manuela Enciu ORCID logo, Sorin Vamesu ORCID logo, Sinziana Andra Ghitoi, Mariana Deacu ORCID logo

DOI: 10.12659/AJCR.947774

Am J Case Rep 2025; 26:e947774

1,130 5,517 0

#947774

12 Dec 2025 : Case report  Romania

Unpredictable Evolution of Pilocytic Astrocytoma in Adults: A Case Series and Diagnostic Challenges

Anamaria Sincu, Cristian-Ionut Orasanu ORCID logo, Raluca Ioana Voda ORCID logo, Madalina Bosoteanu ORCID logo, Manuela Enciu ORCID logo, Sorin Vamesu ORCID logo, Sinziana Andra Ghitoi, Mariana Deacu ORCID logo

DOI: 10.12659/AJCR.947774

Am J Case Rep 2025; 26:e947774

1130 5517 0

#949936

14 Dec 2025 : Case report  Saudi Arabia

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

#949936

14 Dec 2025 : Case report  Saudi Arabia

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

In Press

Case report  China

Exertional Rhabdomyolysis With Moderate Creatine Kinase Elevation and Marked Transaminase Elevation but Pre...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954163  

Case report  Brazil

Image-Guided Cervicotomy and Recurrent Laryngeal Nerve Reinnervation in Zone II Glass Neck Trauma: A Case R...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954178  

Case report  USA

When Infection Mimics Vasculitis: Hydralazine-Induced ANCA-Associated Crescentic Glomerulonephritis in the ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954110  

Case report  China

Treatment of External Auditory Canal Hemangioma by Surgical Excision and Flap Reconstruction: 2 Case Reports

Am J Case Rep In Press; DOI: 10.12659/AJCR.953469  

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923