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Rare disease

#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

683 1,664 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

683 1664 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

761 1,152 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

761 1152 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

1,088 169 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

1088 169 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

769 1,156 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

769 1156 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

1,004 2,306 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

1004 2306 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

728 2,259 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

728 2259 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

698 1,083 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

698 1083 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

671 1,744 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

671 1744 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

778 1,384 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

778 1384 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

732 1,302 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

732 1302 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

661 2,190 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

661 2190 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

806 1,704 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

806 1704 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

948 1,882 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

948 1882 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

1,361 2,787 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

1361 2787 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

777 1,654 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

777 1654 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

841 2,324 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

841 2324 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

730 1,236 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

730 1236 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

824 1,082 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

824 1082 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

1,023 4,785 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

1023 4785 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

1,122 3,279 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

1122 3279 0

#948020

11 Dec 2025 : Case report  Poland

A 60-Year-Old Man with an Incidental Finding of an Asymptomatic Aneurysm of the Right Gastroepiploic Artery Managed by Laparoscopic Resection

Maksymilian Baryła ORCID logo, Paweł Kazimierz Ziemiański ORCID logo

DOI: 10.12659/AJCR.948020

Am J Case Rep 2025; 26:e948020

766 1,163 0

#948020

11 Dec 2025 : Case report  Poland

A 60-Year-Old Man with an Incidental Finding of an Asymptomatic Aneurysm of the Right Gastroepiploic Artery Managed by Laparoscopic Resection

Maksymilian Baryła ORCID logo, Paweł Kazimierz Ziemiański ORCID logo

DOI: 10.12659/AJCR.948020

Am J Case Rep 2025; 26:e948020

766 1163 0

#948709

14 Dec 2025 : Case report  China

Acquired Subglottic Stenosis in a 2-Month-Old Infant After Prolonged Intubation Associated With Pertussis Pneumonia: A Case Report

Yun-Gai Cheng, Xiao-Fen Tao, Xu Dan, Xue-Jing Li, Lei Wu, Xi-Ling Wu

DOI: 10.12659/AJCR.948709

Am J Case Rep 2025; 26:e948709

794 1,853 0

#948709

14 Dec 2025 : Case report  China

Acquired Subglottic Stenosis in a 2-Month-Old Infant After Prolonged Intubation Associated With Pertussis Pneumonia: A Case Report

Yun-Gai Cheng, Xiao-Fen Tao, Xu Dan, Xue-Jing Li, Lei Wu, Xi-Ling Wu

DOI: 10.12659/AJCR.948709

Am J Case Rep 2025; 26:e948709

794 1853 0

#949587

10 Dec 2025 : Case report  Palestinian Territory, Occupied

Isolated Transient Neonatal Ascites in a Preterm Infant Born to a Mother with Mirror Syndrome: A Case Report

Mo’ath Abu Hamdeh, Rasmea Mohammad Asad, Zeidan Abdalsalam, Mohammad Maraqah, Lema Saleh Khaled Jaber, Mai M.R. Rostom, Majed Methqal Abu Jaish

DOI: 10.12659/AJCR.949587

Am J Case Rep 2025; 26:e949587

972 2,244 0

#949587

10 Dec 2025 : Case report  Palestinian Territory, Occupied

Isolated Transient Neonatal Ascites in a Preterm Infant Born to a Mother with Mirror Syndrome: A Case Report

Mo’ath Abu Hamdeh, Rasmea Mohammad Asad, Zeidan Abdalsalam, Mohammad Maraqah, Lema Saleh Khaled Jaber, Mai M.R. Rostom, Majed Methqal Abu Jaish

DOI: 10.12659/AJCR.949587

Am J Case Rep 2025; 26:e949587

972 2244 0

#949004

03 Dec 2025 : Case report  Japan

Endoscopic Retrieval of Ingested Button Battery From a Colonic Diverticulum in an Alzheimer’s Patient: A Case Report

Kazuko Hizukuri, Yasuhiko Fujita, Teruyoshi Amagai

DOI: 10.12659/AJCR.949004

Am J Case Rep 2025; 26:e949004

661 1,181 0

#949004

03 Dec 2025 : Case report  Japan

Endoscopic Retrieval of Ingested Button Battery From a Colonic Diverticulum in an Alzheimer’s Patient: A Case Report

Kazuko Hizukuri, Yasuhiko Fujita, Teruyoshi Amagai

DOI: 10.12659/AJCR.949004

Am J Case Rep 2025; 26:e949004

661 1181 0

#949018

09 Dec 2025 : Case report  China

A Rare Case of Emphysematous Pyelonephritis Following Retrograde Intrarenal Surgery in an Elderly Man

Weiyong Zhong ORCID logo, Feihong Xu ORCID logo, Shujiang Ye, Yu Liu, Wei Zhao, Zhenquan Lu, Lin Xiong, Xiang Xu

DOI: 10.12659/AJCR.949018

Am J Case Rep 2025; 26:e949018

779 1,359 0

#949018

09 Dec 2025 : Case report  China

A Rare Case of Emphysematous Pyelonephritis Following Retrograde Intrarenal Surgery in an Elderly Man

Weiyong Zhong ORCID logo, Feihong Xu ORCID logo, Shujiang Ye, Yu Liu, Wei Zhao, Zhenquan Lu, Lin Xiong, Xiang Xu

DOI: 10.12659/AJCR.949018

Am J Case Rep 2025; 26:e949018

779 1359 0

In Press

Case report  USA

Refractory Hyperammonemic Encephalopathy as a Paraneoplastic Presentation of Fibrolamellar Hepatocellular C...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952819  

Case report  Indonesia

Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.952834  

Case report  France

Pilomatricoma in an Octogenarian: A Case Report of an Exceptional Late-Life Presentation

Am J Case Rep In Press; DOI: 10.12659/AJCR.953320  

Case report  USA

Canine-Associated Capnocytophaga canimorsus Bacteremia in an Older Adult Without Classical Immunosuppressiv...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952980  

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