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Rare disease

#951359

22 Jan 2026 : Case report  Poland

Management of Bartholin’s Gland Carcinoma in a Perimenopausal Woman: A Case Report

Przemysław Borawski, Robert Kulhawik ORCID logo, Dariusz Boroń ORCID logo, Tomasz Sirek ORCID logo, Kacper Boroń, Piotr Ossowski, Marcin Opławski ORCID logo, Beniamin Oskar Grabarek ORCID logo

DOI: 10.12659/AJCR.951359

Am J Case Rep 2026; 27:e951359

823 1,749 0

#951359

22 Jan 2026 : Case report  Poland

Management of Bartholin’s Gland Carcinoma in a Perimenopausal Woman: A Case Report

Przemysław Borawski, Robert Kulhawik ORCID logo, Dariusz Boroń ORCID logo, Tomasz Sirek ORCID logo, Kacper Boroń, Piotr Ossowski, Marcin Opławski ORCID logo, Beniamin Oskar Grabarek ORCID logo

DOI: 10.12659/AJCR.951359

Am J Case Rep 2026; 27:e951359

823 1749 0

#948708

19 Jan 2026 : Case report  Saudi Arabia

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

#948708

19 Jan 2026 : Case report  Saudi Arabia

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

#950156

18 Jan 2026 : Case report  China

Multi-Pathogen Knee Infection, Including Treponema pallidum and Brucella: A Case Report

Youhan Yang ORCID logo, Haitao Chen, Yinxian Wen, Qinglong Chai, Yi Hua, Xu Yang ORCID logo, Liaobin Chen ORCID logo

DOI: 10.12659/AJCR.950156

Am J Case Rep 2026; 27:e950156

750 1,433 0

#950156

18 Jan 2026 : Case report  China

Multi-Pathogen Knee Infection, Including Treponema pallidum and Brucella: A Case Report

Youhan Yang ORCID logo, Haitao Chen, Yinxian Wen, Qinglong Chai, Yi Hua, Xu Yang ORCID logo, Liaobin Chen ORCID logo

DOI: 10.12659/AJCR.950156

Am J Case Rep 2026; 27:e950156

750 1433 0

#949724

02 Jan 2026 : Case report  USA

Cerebral Metastasis From Recurrent Atrial Myxoma: A Case Report

Obada Kholoki ORCID logo, Ali Al Dailaty, Johnny Atallah, Shea-Lee Godin, Tyler Kingma ORCID logo, Agnes S. Kim ORCID logo

DOI: 10.12659/AJCR.949724

Am J Case Rep 2026; 27:e949724

1,421 86 0

#949724

02 Jan 2026 : Case report  USA

Cerebral Metastasis From Recurrent Atrial Myxoma: A Case Report

Obada Kholoki ORCID logo, Ali Al Dailaty, Johnny Atallah, Shea-Lee Godin, Tyler Kingma ORCID logo, Agnes S. Kim ORCID logo

DOI: 10.12659/AJCR.949724

Am J Case Rep 2026; 27:e949724

1421 86 0

#948999

15 Jan 2026 : Case report  Albania

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype

Paskal Cullufi ORCID logo, Virtut Velmishi ORCID logo, Ermira Dervishi, Sonila Tomori ORCID logo, Gladiola Hoxha, Eda Jazexhiu-Postoli ORCID logo, Entela Basha ORCID logo, Aferdita Kumaraku Tako, Mirela Tabaku ORCID logo

DOI: 10.12659/AJCR.948999

Am J Case Rep 2026; 27:e948999

877 1,616 0

#948999

15 Jan 2026 : Case report  Albania

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype

Paskal Cullufi ORCID logo, Virtut Velmishi ORCID logo, Ermira Dervishi, Sonila Tomori ORCID logo, Gladiola Hoxha, Eda Jazexhiu-Postoli ORCID logo, Entela Basha ORCID logo, Aferdita Kumaraku Tako, Mirela Tabaku ORCID logo

DOI: 10.12659/AJCR.948999

Am J Case Rep 2026; 27:e948999

877 1616 0

#949945

13 Jan 2026 : Case report  USA

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

#949945

13 Jan 2026 : Case report  USA

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

#949102

17 Jan 2026 : Case report  China

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

#949102

17 Jan 2026 : Case report  China

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

#949917

15 Jan 2026 : Case report  China

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

#949917

15 Jan 2026 : Case report  China

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

#949940

13 Jan 2026 : Case report  China

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

#949940

13 Jan 2026 : Case report  China

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

#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

847 3,135 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

847 3135 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

1,159 2,594 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

1159 2594 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

887 1,698 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

887 1698 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

988 2,639 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

988 2639 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

961 1,405 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

961 1405 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

720 1,879 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

720 1879 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

813 1,235 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

813 1235 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

1,142 170 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

1142 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

806 1,248 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

806 1248 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

1,063 2,440 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

1063 2440 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

776 2,516 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

776 2516 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

742 1,164 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

742 1164 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

726 1,896 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

726 1896 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

817 1,449 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

817 1449 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

777 1,425 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

777 1425 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

700 2,297 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

700 2297 0

In Press

Case report  Indonesia

Intravitreal Onchocerca sp. With Concomitant Cerebral MRI Lesion: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.952921  

Case report  Japan

Retrieval of a Displaced Mandibular Tooth Fragment From the Floor of the Mouth Using a Combined Navigation ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.953836  

Case report  Georgia

A 35-Year-Old Woman Presenting With Life-Threatening Fulminant Myocarditis After COVID-19: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.953506  

Case report  Belgium

A Case of Pneumocephalus on Valsalva Maneuver: A Case Report and Literature Review

Am J Case Rep In Press; DOI: 10.12659/AJCR.953059  

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