Rare disease

22 Jan 2026 : Case report
Management of Bartholin’s Gland Carcinoma in a Perimenopausal Woman: A Case Report
Przemysław Borawski, Robert Kulhawik
, Dariusz Boroń
, Tomasz Sirek
, Kacper Boroń, Piotr Ossowski, Marcin Opławski
, Beniamin Oskar Grabarek
DOI: 10.12659/AJCR.951359
Am J Case Rep 2026; 27:e951359
823 1,749 0

22 Jan 2026 : Case report
Management of Bartholin’s Gland Carcinoma in a Perimenopausal Woman: A Case Report
Przemysław Borawski, Robert Kulhawik
, Dariusz Boroń
, Tomasz Sirek
, Kacper Boroń, Piotr Ossowski, Marcin Opławski
, Beniamin Oskar Grabarek
DOI: 10.12659/AJCR.951359
Am J Case Rep 2026; 27:e951359
823 1749 0

19 Jan 2026 : Case report
Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Ibrahim Al Alwan, Kawther Ibrahim Alhawsawi
DOI: 10.12659/AJCR.948708
Am J Case Rep 2026; 27:e948708
873 2,630 0

19 Jan 2026 : Case report
Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Ibrahim Al Alwan, Kawther Ibrahim Alhawsawi
DOI: 10.12659/AJCR.948708
Am J Case Rep 2026; 27:e948708
873 2630 0

18 Jan 2026 : Case report
Multi-Pathogen Knee Infection, Including Treponema pallidum and Brucella: A Case Report
Youhan Yang
, Haitao Chen, Yinxian Wen, Qinglong Chai, Yi Hua, Xu Yang
, Liaobin Chen
DOI: 10.12659/AJCR.950156
Am J Case Rep 2026; 27:e950156
750 1,433 0

18 Jan 2026 : Case report
Multi-Pathogen Knee Infection, Including Treponema pallidum and Brucella: A Case Report
Youhan Yang
, Haitao Chen, Yinxian Wen, Qinglong Chai, Yi Hua, Xu Yang
, Liaobin Chen
DOI: 10.12659/AJCR.950156
Am J Case Rep 2026; 27:e950156
750 1433 0

02 Jan 2026 : Case report
Cerebral Metastasis From Recurrent Atrial Myxoma: A Case Report
Obada Kholoki
, Ali Al Dailaty, Johnny Atallah, Shea-Lee Godin, Tyler Kingma
, Agnes S. Kim
DOI: 10.12659/AJCR.949724
Am J Case Rep 2026; 27:e949724
1,421 86 0

02 Jan 2026 : Case report
Cerebral Metastasis From Recurrent Atrial Myxoma: A Case Report
Obada Kholoki
, Ali Al Dailaty, Johnny Atallah, Shea-Lee Godin, Tyler Kingma
, Agnes S. Kim
DOI: 10.12659/AJCR.949724
Am J Case Rep 2026; 27:e949724
1421 86 0

15 Jan 2026 : Case report
Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype
Paskal Cullufi
, Virtut Velmishi
, Ermira Dervishi, Sonila Tomori
, Gladiola Hoxha, Eda Jazexhiu-Postoli
, Entela Basha
, Aferdita Kumaraku Tako, Mirela Tabaku
DOI: 10.12659/AJCR.948999
Am J Case Rep 2026; 27:e948999
877 1,616 0

15 Jan 2026 : Case report
Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype
Paskal Cullufi
, Virtut Velmishi
, Ermira Dervishi, Sonila Tomori
, Gladiola Hoxha, Eda Jazexhiu-Postoli
, Entela Basha
, Aferdita Kumaraku Tako, Mirela Tabaku
DOI: 10.12659/AJCR.948999
Am J Case Rep 2026; 27:e948999
877 1616 0

13 Jan 2026 : Case report
Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain
Gurpreet Singh, Jack Petroski, Drake Marden, Andrew Knauer
DOI: 10.12659/AJCR.949945
Am J Case Rep 2026; 27:e949945
856 1,207 0

13 Jan 2026 : Case report
Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain
Gurpreet Singh, Jack Petroski, Drake Marden, Andrew Knauer
DOI: 10.12659/AJCR.949945
Am J Case Rep 2026; 27:e949945
856 1207 0

17 Jan 2026 : Case report
Red Complex Bacteria as a Hidden Cause of Chronic Lung Abscess: A Case Report
Hong Chang, Xiaohua Qin
DOI: 10.12659/AJCR.949102
Am J Case Rep 2026; 27:e949102
674 1,837 0

17 Jan 2026 : Case report
Red Complex Bacteria as a Hidden Cause of Chronic Lung Abscess: A Case Report
Hong Chang, Xiaohua Qin
DOI: 10.12659/AJCR.949102
Am J Case Rep 2026; 27:e949102
674 1837 0

15 Jan 2026 : Case report
Anaphylaxis and Cardiac Arrest Induced by Initial Intravenous Ceftriaxone: A Case Report
Zhichu Dai, Jiankun Liao, Liwei He
DOI: 10.12659/AJCR.949917
Am J Case Rep 2026; 27:e949917
933 4,566 0

15 Jan 2026 : Case report
Anaphylaxis and Cardiac Arrest Induced by Initial Intravenous Ceftriaxone: A Case Report
Zhichu Dai, Jiankun Liao, Liwei He
DOI: 10.12659/AJCR.949917
Am J Case Rep 2026; 27:e949917
933 4566 0

13 Jan 2026 : Case report
Double-Incision Surgical Management of Incarcerated Obturator Hernia Presenting With Acute Right Lower Abdominal Pain in a 67-Year-Old Woman
YeSheng Zhang, XiaoXin Gu, YiHeng Yang, GuoChao Ye, Neng Lou
DOI: 10.12659/AJCR.949940
Am J Case Rep 2026; 27:e949940
678 1,392 0

13 Jan 2026 : Case report
Double-Incision Surgical Management of Incarcerated Obturator Hernia Presenting With Acute Right Lower Abdominal Pain in a 67-Year-Old Woman
YeSheng Zhang, XiaoXin Gu, YiHeng Yang, GuoChao Ye, Neng Lou
DOI: 10.12659/AJCR.949940
Am J Case Rep 2026; 27:e949940
678 1392 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
847 3,135 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
847 3135 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
1,159 2,594 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
1159 2594 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
887 1,698 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
887 1698 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
988 2,639 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
988 2639 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
961 1,405 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
961 1405 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
720 1,879 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
720 1879 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
813 1,235 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
813 1235 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
1,142 170 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
1142 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
806 1,248 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
806 1248 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
1,063 2,440 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
1063 2440 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
776 2,516 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
776 2516 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
742 1,164 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
742 1164 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
726 1,896 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
726 1896 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
817 1,449 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
817 1449 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
777 1,425 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
777 1425 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
700 2,297 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
700 2297 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952921
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953836
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953506
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953059
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