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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

923 2,094 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

923 2094 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

1,016 3,024 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

1016 3024 0

#950958

19 Jan 2026 : Case report  USA

Diagnosis of Dual c- and p-ANCA Vasculitis Following SARS-CoV-2 Infection: A Case Report

Isaac B. Wolfkind ORCID logo, Ronan J. McOsker, Debra Karling, Connor McKinney, Eslam Mohamed

DOI: 10.12659/AJCR.950958

Am J Case Rep 2026; 27:e950958

1,335 2,575 0

#950958

19 Jan 2026 : Case report  USA

Diagnosis of Dual c- and p-ANCA Vasculitis Following SARS-CoV-2 Infection: A Case Report

Isaac B. Wolfkind ORCID logo, Ronan J. McOsker, Debra Karling, Connor McKinney, Eslam Mohamed

DOI: 10.12659/AJCR.950958

Am J Case Rep 2026; 27:e950958

1335 2575 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

837 1,629 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

837 1629 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

754 2,050 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

754 2050 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

1,077 5,225 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

1077 5225 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

997 1,850 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

997 1850 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

775 1,588 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

775 1588 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

959 1,398 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

959 1398 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

931 3,492 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

931 3492 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

973 1,931 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

973 1931 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

1,055 1,601 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

1055 1601 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

892 1,402 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

892 1402 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

793 2,136 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

793 2136 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

1,096 2,933 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

1096 2933 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

905 1,465 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

905 1465 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

1,274 2,883 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

1274 2883 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

1,573 88 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

1573 88 0

#950665

01 Jan 2026 : Case report  Saudi Arabia

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening

Lujain K. Halawani

DOI: 10.12659/AJCR.950665

Am J Case Rep 2026; 27:e950665

1,518 95 0

#950665

01 Jan 2026 : Case report  Saudi Arabia

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening

Lujain K. Halawani

DOI: 10.12659/AJCR.950665

Am J Case Rep 2026; 27:e950665

1518 95 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

1,263 170 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

1263 170 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

878 1,654 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

878 1654 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

844 1,360 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

844 1360 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

788 2,568 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

788 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

915 2,875 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

915 2875 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

952 2,113 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

952 2113 0

In Press

Case report  Ecuador

Streptococcus constellatus–Associated Lemierre Syndrome Presenting With Cavitating Septic Pulmonary Emboli ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.953543  

Case report  Japan

A 78-Year-Old Man With a Previously Stable Atherosclerotic Abdominal Aortic Aneurysm Presenting With Impend...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954216  

Case report  China

Tricuspid Chordae Tendineae Rupture Detected After Repair of a Delayed Traumatic Left Ventricular Aneurysm:...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954932  

Case report  USA

Bilateral Xanthogranulomatous Pyelonephritis in a Patient With Spina Bifida and Neurogenic Bladder: A Case ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954146  

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