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Rare disease

#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

1,626 96 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

1626 96 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

1,343 170 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

1343 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

927 1,770 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

927 1770 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

891 1,463 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

891 1463 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

848 2,721 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

848 2721 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

1,006 3,069 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

1006 3069 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

1,004 2,276 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

1004 2276 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

1,158 2,505 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

1158 2505 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

1,006 1,788 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

1006 1788 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

982 2,169 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

982 2169 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

1,281 2,852 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

1281 2852 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

1,048 3,145 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

1048 3145 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

1,665 3,581 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

1665 3581 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

925 1,659 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

925 1659 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

1,014 1,512 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

1014 1512 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

1,414 4,264 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

1414 4264 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

1,015 2,367 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

1015 2367 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

1,220 5,900 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

1220 5900 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

933 1,494 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

933 1494 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

1,192 2,915 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

1192 2915 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

945 1,816 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

945 1816 0

#949699

09 Dec 2025 : Case report  Indonesia

Behçet Disease and Cognitive Impairment: A Case Study of an Overlooked Symptom

Caroline Evanthe Nathania ORCID logo, Astuti Prodjohardjono ORCID logo, Noor Alia Susianti ORCID logo, Abdul Gofir ORCID logo, Cempaka Thursina Srie Setyaningrum ORCID logo, Kamala Kan Nur Azza ORCID logo, Ahmad Asmedi ORCID logo, Sri Sutarni ORCID logo

DOI: 10.12659/AJCR.949699

Am J Case Rep 2025; 26:e949699

1,304 3,359 0

#949699

09 Dec 2025 : Case report  Indonesia

Behçet Disease and Cognitive Impairment: A Case Study of an Overlooked Symptom

Caroline Evanthe Nathania ORCID logo, Astuti Prodjohardjono ORCID logo, Noor Alia Susianti ORCID logo, Abdul Gofir ORCID logo, Cempaka Thursina Srie Setyaningrum ORCID logo, Kamala Kan Nur Azza ORCID logo, Ahmad Asmedi ORCID logo, Sri Sutarni ORCID logo

DOI: 10.12659/AJCR.949699

Am J Case Rep 2025; 26:e949699

1304 3359 0

#949913

07 Dec 2025 : Case report  Thailand

Acute Kidney Injury from Mononuclear Cell-Predominated Interstitial Nephritis After Introduction of a Glucagon-Like Peptide-1 Receptor Agonist: A Case Report

Raweekarn Itsathitpaisarn, Nattavong Suksawad, Watsapol Wongwikrom, Jerasit Surintrspanont ORCID logo, Thana Thongsricome ORCID logo

DOI: 10.12659/AJCR.949913

Am J Case Rep 2025; 26:e949913

1,309 3,084 0

#949913

07 Dec 2025 : Case report  Thailand

Acute Kidney Injury from Mononuclear Cell-Predominated Interstitial Nephritis After Introduction of a Glucagon-Like Peptide-1 Receptor Agonist: A Case Report

Raweekarn Itsathitpaisarn, Nattavong Suksawad, Watsapol Wongwikrom, Jerasit Surintrspanont ORCID logo, Thana Thongsricome ORCID logo

DOI: 10.12659/AJCR.949913

Am J Case Rep 2025; 26:e949913

1309 3084 0

#949805

05 Dec 2025 : Case report  China

Surgical Decompression in a 32-Year-Old Man with Chronic Onset of Thoracic Spontaneous Spinal Epidural Hematoma: A Case Report

Xi Xiang, Jie Wang, Han Wang, Qi Yang, Xun Sun, Shiyu Li, Lili Zou

DOI: 10.12659/AJCR.949805

Am J Case Rep 2025; 26:e949805

954 1,999 0

#949805

05 Dec 2025 : Case report  China

Surgical Decompression in a 32-Year-Old Man with Chronic Onset of Thoracic Spontaneous Spinal Epidural Hematoma: A Case Report

Xi Xiang, Jie Wang, Han Wang, Qi Yang, Xun Sun, Shiyu Li, Lili Zou

DOI: 10.12659/AJCR.949805

Am J Case Rep 2025; 26:e949805

954 1999 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

876 1,655 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

876 1655 0

In Press

Case report  USA

Fluorouracil-Associated Coronary Vasospasm and Reversible Cardiomyopathy Mimicking ST-Elevation Myocardial ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954889  

Case report  Japan

Spontaneous Closure of a Secondary Macular Hole After Rhegmatogenous Retinal Detachment Repair With Membran...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954405  

Case report  Denmark

Preoxygenation With Tube-Tip-in-Mouth Method: A Case Report of a Feasible Alternative for a Patient With Cl...

Am J Case Rep In Press; DOI: 10.12659/AJCR.953611  

Case report  Greece

Negative Pressure Wound Therapy After Extensive Debridement of a Pediatric Plantar Puncture-Wound Infection...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954016  

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