Rare disease

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
683 1,664 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
683 1664 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
761 1,152 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
761 1152 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
1,088 169 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
1088 169 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
769 1,156 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
769 1156 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
1,004 2,306 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
1004 2306 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
728 2,259 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
728 2259 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
698 1,083 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
698 1083 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
671 1,744 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
671 1744 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
778 1,384 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
778 1384 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
732 1,302 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
732 1302 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
661 2,190 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
661 2190 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
806 1,704 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
806 1704 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
948 1,882 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
948 1882 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
1,361 2,787 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
1361 2787 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
777 1,654 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
777 1654 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
841 2,324 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
841 2324 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
730 1,236 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
730 1236 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
824 1,082 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
824 1082 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
1,023 4,785 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
1023 4785 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
1,122 3,279 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
1122 3279 0

11 Dec 2025 : Case report
A 60-Year-Old Man with an Incidental Finding of an Asymptomatic Aneurysm of the Right Gastroepiploic Artery Managed by Laparoscopic Resection
Maksymilian Baryła
, Paweł Kazimierz Ziemiański
DOI: 10.12659/AJCR.948020
Am J Case Rep 2025; 26:e948020
766 1,163 0

11 Dec 2025 : Case report
A 60-Year-Old Man with an Incidental Finding of an Asymptomatic Aneurysm of the Right Gastroepiploic Artery Managed by Laparoscopic Resection
Maksymilian Baryła
, Paweł Kazimierz Ziemiański
DOI: 10.12659/AJCR.948020
Am J Case Rep 2025; 26:e948020
766 1163 0

14 Dec 2025 : Case report
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

14 Dec 2025 : Case report
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

10 Dec 2025 : Case report
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

10 Dec 2025 : Case report
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

03 Dec 2025 : Case report
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

03 Dec 2025 : Case report
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

09 Dec 2025 : Case report
A Rare Case of Emphysematous Pyelonephritis Following Retrograde Intrarenal Surgery in an Elderly Man
Weiyong Zhong
, Feihong Xu
, 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

09 Dec 2025 : Case report
A Rare Case of Emphysematous Pyelonephritis Following Retrograde Intrarenal Surgery in an Elderly Man
Weiyong Zhong
, Feihong Xu
, 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
Am J Case Rep In Press; DOI: 10.12659/AJCR.952819
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952834
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953320
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952980
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