Rare disease

01 Jan 2026 : Case report
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

01 Jan 2026 : Case report
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

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
1,343 170 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
1343 170 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
927 1,770 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
927 1770 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
891 1,463 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
891 1463 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
848 2,721 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
848 2721 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
1,006 3,069 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
1006 3069 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
1,004 2,276 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
1004 2276 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
1,158 2,505 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
1158 2505 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
1,006 1,788 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
1006 1788 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
982 2,169 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
982 2169 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
1,281 2,852 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
1281 2852 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
1,048 3,145 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
1048 3145 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
1,665 3,581 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
1665 3581 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
925 1,659 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
925 1659 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
1,014 1,512 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
1014 1512 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
1,414 4,264 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
1414 4264 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
1,015 2,367 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
1015 2367 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
1,220 5,900 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
1220 5900 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
933 1,494 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
933 1494 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
1,192 2,915 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
1192 2915 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
945 1,816 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
945 1816 0

09 Dec 2025 : Case report
Behçet Disease and Cognitive Impairment: A Case Study of an Overlooked Symptom
Caroline Evanthe Nathania
, Astuti Prodjohardjono
, Noor Alia Susianti
, Abdul Gofir
, Cempaka Thursina Srie Setyaningrum
, Kamala Kan Nur Azza
, Ahmad Asmedi
, Sri Sutarni
DOI: 10.12659/AJCR.949699
Am J Case Rep 2025; 26:e949699
1,304 3,359 0

09 Dec 2025 : Case report
Behçet Disease and Cognitive Impairment: A Case Study of an Overlooked Symptom
Caroline Evanthe Nathania
, Astuti Prodjohardjono
, Noor Alia Susianti
, Abdul Gofir
, Cempaka Thursina Srie Setyaningrum
, Kamala Kan Nur Azza
, Ahmad Asmedi
, Sri Sutarni
DOI: 10.12659/AJCR.949699
Am J Case Rep 2025; 26:e949699
1304 3359 0

07 Dec 2025 : Case report
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
, Thana Thongsricome
DOI: 10.12659/AJCR.949913
Am J Case Rep 2025; 26:e949913
1,309 3,084 0

07 Dec 2025 : Case report
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
, Thana Thongsricome
DOI: 10.12659/AJCR.949913
Am J Case Rep 2025; 26:e949913
1309 3084 0

05 Dec 2025 : Case report
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

05 Dec 2025 : Case report
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

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
876 1,655 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
876 1655 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954889
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954405
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953611
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954016
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