Rare disease

29 Nov 2023 : Case report
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
Lijun Liu, Chanchan Hu, Zhenjie Chen, Shuzhen Zhu, Lvchang Zhu
DOI: 10.12659/AJCR.942377
Am J Case Rep 2023; 24:e942377
504 54 0

29 Nov 2023 : Case report
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
Lijun Liu, Chanchan Hu, Zhenjie Chen, Shuzhen Zhu, Lvchang Zhu
DOI: 10.12659/AJCR.942377
Am J Case Rep 2023; 24:e942377
504 54 0

09 Dec 2023 : Case report
Long-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance
Xiaoyan Peng, Chaoying Chen, Juan Tu, Yuan Lin, Huarong Li, Haiyun Geng
DOI: 10.12659/AJCR.941627
Am J Case Rep 2023; 24:e941627
157 33 0

09 Dec 2023 : Case report
Long-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance
Xiaoyan Peng, Chaoying Chen, Juan Tu, Yuan Lin, Huarong Li, Haiyun Geng
DOI: 10.12659/AJCR.941627
Am J Case Rep 2023; 24:e941627
157 33 0

08 Dec 2023 : Case report
Resolving the Dance: A Case Study on Non-Ketotic Hyperglycemic Hemichorea-Hemiballismus in a Patient with Long-Standing Type 2 Diabetes
Angelina Winbush, Stewart Mahler, Melanie Braun, Kriti Thapa
DOI: 10.12659/AJCR.941443
Am J Case Rep 2023; 24:e941443
207 52 0

08 Dec 2023 : Case report
Resolving the Dance: A Case Study on Non-Ketotic Hyperglycemic Hemichorea-Hemiballismus in a Patient with Long-Standing Type 2 Diabetes
Angelina Winbush, Stewart Mahler, Melanie Braun, Kriti Thapa
DOI: 10.12659/AJCR.941443
Am J Case Rep 2023; 24:e941443
207 52 0

04 Dec 2023 : Case report
A Case Report of a Rare ER+, PR- Pure Metaplastic Breast Squamous Cell Carcinoma with HER2 Overexpression
Shafawati Akmal Adam, Khairatul Nainey Kamaruddin, Nordashima Abd Shukor, Shahrun Niza Abdullah Suhaimi, Fuad Ismail, Mazapuspavina Md Yasin
DOI: 10.12659/AJCR.941448
Am J Case Rep 2023; 24:e941448
505 59 0

04 Dec 2023 : Case report
A Case Report of a Rare ER+, PR- Pure Metaplastic Breast Squamous Cell Carcinoma with HER2 Overexpression
Shafawati Akmal Adam, Khairatul Nainey Kamaruddin, Nordashima Abd Shukor, Shahrun Niza Abdullah Suhaimi, Fuad Ismail, Mazapuspavina Md Yasin
DOI: 10.12659/AJCR.941448
Am J Case Rep 2023; 24:e941448
505 59 0

04 Dec 2023 : Case report
Molecular Diagnosis of Severe Angiostrongylus cantonensis-Induced Eosinophilic Meningitis: A Case Report Emphasizing the Need for Accurate Detection Methods
Wei-Ting Luo , Ching-Hao Hsu
, Roy Chen-Chih Wu, Hsin-Pai Chen
DOI: 10.12659/AJCR.941925
Am J Case Rep 2023; 24:e941925
312 61 0

04 Dec 2023 : Case report
Molecular Diagnosis of Severe Angiostrongylus cantonensis-Induced Eosinophilic Meningitis: A Case Report Emphasizing the Need for Accurate Detection Methods
Wei-Ting Luo , Ching-Hao Hsu
, Roy Chen-Chih Wu, Hsin-Pai Chen
DOI: 10.12659/AJCR.941925
Am J Case Rep 2023; 24:e941925
312 61 0

03 Dec 2023 : Case report
Platypnea-Orthodeoxia Syndrome Caused by Patent Foramen Ovale with Right-To-Left Shunt
Waleed Al Saadi , Ali I. Al-Lawati, Mujahid Al Busaidi, Sheeraz Ahmed, Zeyana Alhadhrami, Fahad Alkindi
DOI: 10.12659/AJCR.942216
Am J Case Rep 2023; 24:e942216
580 66 0

03 Dec 2023 : Case report
Platypnea-Orthodeoxia Syndrome Caused by Patent Foramen Ovale with Right-To-Left Shunt
Waleed Al Saadi , Ali I. Al-Lawati, Mujahid Al Busaidi, Sheeraz Ahmed, Zeyana Alhadhrami, Fahad Alkindi
DOI: 10.12659/AJCR.942216
Am J Case Rep 2023; 24:e942216
580 66 0

01 Dec 2023 : Case report
Shedding Light on Multiple Symmetric Lipomatosis: An Overlooked Syndrome in the Evaluation of Obesity
Miguel Saraiva , Lia M.D. Ferreira, Rui Carvalho
DOI: 10.12659/AJCR.941751
Am J Case Rep 2023; 24:e941751
292 68 0

01 Dec 2023 : Case report
Shedding Light on Multiple Symmetric Lipomatosis: An Overlooked Syndrome in the Evaluation of Obesity
Miguel Saraiva , Lia M.D. Ferreira, Rui Carvalho
DOI: 10.12659/AJCR.941751
Am J Case Rep 2023; 24:e941751
292 68 0

14 Nov 2023 : Case report
A Rare Case of Acute Myocardial Infarction in Pregnancy: Successful Treatment Strategies
Paweł Andrzej Zieliński, Łukasz Gawlik, Joanna Krupińska , Grzegorz Wróbel
, Marta Głuchowska, Artur Szeszko, Klaudia Papros, Katarzyna Nowak, Łukasz Szeszko
DOI: 10.12659/AJCR.940790
Am J Case Rep 2023; 24:e940790
1,622 147 0

14 Nov 2023 : Case report
A Rare Case of Acute Myocardial Infarction in Pregnancy: Successful Treatment Strategies
Paweł Andrzej Zieliński, Łukasz Gawlik, Joanna Krupińska , Grzegorz Wróbel
, Marta Głuchowska, Artur Szeszko, Klaudia Papros, Katarzyna Nowak, Łukasz Szeszko
DOI: 10.12659/AJCR.940790
Am J Case Rep 2023; 24:e940790
1622 147 0

29 Nov 2023 : Case report
A Unique Case of Perforated Appendicitis in a Giant Incarcerated Right-Sided Inguinal Hernia: Challenges and Surgical Management
Alexis Litchinko , Paul Botti
, Guillaume Meurette, Frédéric Ris
, Arnaud Dupuis
DOI: 10.12659/AJCR.941649
Am J Case Rep 2023; 24:e941649
436 100 0

29 Nov 2023 : Case report
A Unique Case of Perforated Appendicitis in a Giant Incarcerated Right-Sided Inguinal Hernia: Challenges and Surgical Management
Alexis Litchinko , Paul Botti
, Guillaume Meurette, Frédéric Ris
, Arnaud Dupuis
DOI: 10.12659/AJCR.941649
Am J Case Rep 2023; 24:e941649
436 100 0

25 Nov 2023 : Case report
Primary Thymic Hodgkin Lymphoma Coexisting with Thymoma and Myasthenia Gravis: A Case Report
Sarah Almuqbil, Amal AlHarbi, Fatimah S. Alzouri, Hatem Yazeed Elbawab, Noor S. Alsafwani, Zahra Alkhunaizy
DOI: 10.12659/AJCR.941792
Am J Case Rep 2023; 24:e941792
744 82 0

25 Nov 2023 : Case report
Primary Thymic Hodgkin Lymphoma Coexisting with Thymoma and Myasthenia Gravis: A Case Report
Sarah Almuqbil, Amal AlHarbi, Fatimah S. Alzouri, Hatem Yazeed Elbawab, Noor S. Alsafwani, Zahra Alkhunaizy
DOI: 10.12659/AJCR.941792
Am J Case Rep 2023; 24:e941792
744 82 0

23 Nov 2023 : Case report
Rare Cause of Gastrointestinal Bleeding: A Case Report of Pancreatic Arteriovenous Malformation
Thanh Huu Nguyen , Lam Tung Tran, Binh Canh Nguyen, Nga Thi Dinh, Hoai Thu Mai, Quang Ngoc Minh Pham, Linh Van Ho, Thai Doan Ky, Tung Lam Nguyen
DOI: 10.12659/AJCR.941638
Am J Case Rep 2023; 24:e941638
742 105 0

23 Nov 2023 : Case report
Rare Cause of Gastrointestinal Bleeding: A Case Report of Pancreatic Arteriovenous Malformation
Thanh Huu Nguyen , Lam Tung Tran, Binh Canh Nguyen, Nga Thi Dinh, Hoai Thu Mai, Quang Ngoc Minh Pham, Linh Van Ho, Thai Doan Ky, Tung Lam Nguyen
DOI: 10.12659/AJCR.941638
Am J Case Rep 2023; 24:e941638
742 105 0

22 Nov 2023 : Case report
Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant
Oyintayo Ajiboye , Jaime E. Vengoechea
, Ritu Gupta, Koba Lomashvili
DOI: 10.12659/AJCR.941413
Am J Case Rep 2023; 24:e941413
538 66 0

22 Nov 2023 : Case report
Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant
Oyintayo Ajiboye , Jaime E. Vengoechea
, Ritu Gupta, Koba Lomashvili
DOI: 10.12659/AJCR.941413
Am J Case Rep 2023; 24:e941413
538 66 0

22 Nov 2023 : Case report
A 21-Year-Old Woman with Sickle Cell Disease and Vaso-Occlusive Pain Associated with Using an Electronic Nicotine Dispensing System (E-Cigarette or Vape) – a Case Report
Ganga Girish , Bingtao Xiang, Lewis L. Hsu
DOI: 10.12659/AJCR.941268
Am J Case Rep 2023; 24:e941268
1,152 108 0

22 Nov 2023 : Case report
A 21-Year-Old Woman with Sickle Cell Disease and Vaso-Occlusive Pain Associated with Using an Electronic Nicotine Dispensing System (E-Cigarette or Vape) – a Case Report
Ganga Girish , Bingtao Xiang, Lewis L. Hsu
DOI: 10.12659/AJCR.941268
Am J Case Rep 2023; 24:e941268
1152 108 0

21 Nov 2023 : Case report
Primary Malignant Rhabdoid Tumor of the Liver in a 5-Month-Old Female Who Presented with Abdominal Distension
Hanood Basam Abu Rass, Moutaz W. Sweileh , Mohammad Abuawad
DOI: 10.12659/AJCR.941968
Am J Case Rep 2023; 24:e941968
631 91 0

21 Nov 2023 : Case report
Primary Malignant Rhabdoid Tumor of the Liver in a 5-Month-Old Female Who Presented with Abdominal Distension
Hanood Basam Abu Rass, Moutaz W. Sweileh , Mohammad Abuawad
DOI: 10.12659/AJCR.941968
Am J Case Rep 2023; 24:e941968
631 91 0

17 Nov 2023 : Case report
Erdheim-Chester Disease with Renal Mass Presentation: Report of the First Case From Palestine and a Review of the Literature
Hanood Bassam Abu Rass, Mohammad Abuawad, Yazan Abueideh, Ezzideen Luai Malhis
DOI: 10.12659/AJCR.941912
Am J Case Rep 2023; 24:e941912
673 86 0

17 Nov 2023 : Case report
Erdheim-Chester Disease with Renal Mass Presentation: Report of the First Case From Palestine and a Review of the Literature
Hanood Bassam Abu Rass, Mohammad Abuawad, Yazan Abueideh, Ezzideen Luai Malhis
DOI: 10.12659/AJCR.941912
Am J Case Rep 2023; 24:e941912
673 86 0

14 Nov 2023 : Case report
Immune Checkpoint Inhibitor-Induced Pure Red Cell Aplasia: A Review of 2 Cases in Metastatic Melanoma
Libardo Rueda Prada , Tatjana Gavrancic, Miguel O. Cadena Sanabria
, Igor Dumic
, Kirk Bourgeois, Rebecca L. King, Yiyi Yan
DOI: 10.12659/AJCR.941789
Am J Case Rep 2023; 24:e941789
937 105 0

14 Nov 2023 : Case report
Immune Checkpoint Inhibitor-Induced Pure Red Cell Aplasia: A Review of 2 Cases in Metastatic Melanoma
Libardo Rueda Prada , Tatjana Gavrancic, Miguel O. Cadena Sanabria
, Igor Dumic
, Kirk Bourgeois, Rebecca L. King, Yiyi Yan
DOI: 10.12659/AJCR.941789
Am J Case Rep 2023; 24:e941789
937 105 0

16 Nov 2023 : Case report
Delayed Extrahepatic Biliary Leak: A Rare Presentation 9 Years Post-Laparoscopic Cholecystectomy
Yuuki Yanagisawa, Yasseen Al-Nae’eb, Paris Chrysostomou, Yuksel Gercek
DOI: 10.12659/AJCR.941230
Am J Case Rep 2023; 24:e941230
611 67 0

16 Nov 2023 : Case report
Delayed Extrahepatic Biliary Leak: A Rare Presentation 9 Years Post-Laparoscopic Cholecystectomy
Yuuki Yanagisawa, Yasseen Al-Nae’eb, Paris Chrysostomou, Yuksel Gercek
DOI: 10.12659/AJCR.941230
Am J Case Rep 2023; 24:e941230
611 67 0

15 Nov 2023 : Case report
Anticholinergic Toxidrome as a Possible Explanation for Methylene Blue Toxicity
Saud Aldeghaither , Patrick Jean Francesco Deschênes
, Gordan Samoukovic
DOI: 10.12659/AJCR.941453
Am J Case Rep 2023; 24:e941453
737 76 0

15 Nov 2023 : Case report
Anticholinergic Toxidrome as a Possible Explanation for Methylene Blue Toxicity
Saud Aldeghaither , Patrick Jean Francesco Deschênes
, Gordan Samoukovic
DOI: 10.12659/AJCR.941453
Am J Case Rep 2023; 24:e941453
737 76 0

13 Nov 2023 : Case report
Successful Total Knee Arthroplasty for Hoffa and Proximal Tibial Fractures: Report of Three Complex Cases After Failed Osteosynthesis Procedures
Takuma Maeda, Tomoyuki Matsumoto, Masahiro Fujita, Masanori Tsubosaka, Tomoyuki Kamenaga, Naoki Nakano, Yuichi Kuroda, Shinya Hayashi, Takahiro Niikura, Ryosuke Kuroda
DOI: 10.12659/AJCR.941187
Am J Case Rep 2023; 24:e941187
846 89 0

13 Nov 2023 : Case report
Successful Total Knee Arthroplasty for Hoffa and Proximal Tibial Fractures: Report of Three Complex Cases After Failed Osteosynthesis Procedures
Takuma Maeda, Tomoyuki Matsumoto, Masahiro Fujita, Masanori Tsubosaka, Tomoyuki Kamenaga, Naoki Nakano, Yuichi Kuroda, Shinya Hayashi, Takahiro Niikura, Ryosuke Kuroda
DOI: 10.12659/AJCR.941187
Am J Case Rep 2023; 24:e941187
846 89 0

13 Nov 2023 : Case report
Managing Inflammatory Myofibroblastic Tumor of the Uterus: A Case Report and Comprehensive Review of Pathological and Therapeutic Approaches
Xuechao Ji, Peiling Zhai, Hui Wang, Hanchao Yang, Xinbo Wang
DOI: 10.12659/AJCR.941519
Am J Case Rep 2023; 24:e941519
983 77 0

13 Nov 2023 : Case report
Managing Inflammatory Myofibroblastic Tumor of the Uterus: A Case Report and Comprehensive Review of Pathological and Therapeutic Approaches
Xuechao Ji, Peiling Zhai, Hui Wang, Hanchao Yang, Xinbo Wang
DOI: 10.12659/AJCR.941519
Am J Case Rep 2023; 24:e941519
983 77 0

12 Nov 2023 : Case report
A Rare Case of Severe Stevens-Johnson Syndrome Triggered by Topical Ofloxacin
Brian Shaw, Melinda Madden, Antonio Crespo, Mario Madruga, Steve J. Carlan
DOI: 10.12659/AJCR.941992
Am J Case Rep 2023; 24:e941992
1,056 99 0

12 Nov 2023 : Case report
A Rare Case of Severe Stevens-Johnson Syndrome Triggered by Topical Ofloxacin
Brian Shaw, Melinda Madden, Antonio Crespo, Mario Madruga, Steve J. Carlan
DOI: 10.12659/AJCR.941992
Am J Case Rep 2023; 24:e941992
1056 99 0

11 Nov 2023 : Case report
Two Cases of Degenerative Cervical Spondylotic Myelopathy in Adults with Athetoid and Dystonic Cerebral Palsy
Hayato Kinoshita, Michio Hongo, Yuji Kasukawa, Daisuke Kudo, Ryota Kimura , Naohisa Miyakoshi
DOI: 10.12659/AJCR.941158
Am J Case Rep 2023; 24:e941158
504 50 0

11 Nov 2023 : Case report
Two Cases of Degenerative Cervical Spondylotic Myelopathy in Adults with Athetoid and Dystonic Cerebral Palsy
Hayato Kinoshita, Michio Hongo, Yuji Kasukawa, Daisuke Kudo, Ryota Kimura , Naohisa Miyakoshi
DOI: 10.12659/AJCR.941158
Am J Case Rep 2023; 24:e941158
504 50 0

08 Nov 2023 : Case report
Lifetime Follow-Up of a Patient with Metastatic Prostate Cancer Undergoing Multiple Surgical Resections: A Case Report
Atsushi Nanashima, Takeshi Nagayasu, Naoya Yamasaki, Tomoshi Tsuchiya , Keitaro Matsumoto, Tsutomu Tagawa, Junichi Arai
DOI: 10.12659/AJCR.941668
Am J Case Rep 2023; 24:e941668
845 60 0

08 Nov 2023 : Case report
Lifetime Follow-Up of a Patient with Metastatic Prostate Cancer Undergoing Multiple Surgical Resections: A Case Report
Atsushi Nanashima, Takeshi Nagayasu, Naoya Yamasaki, Tomoshi Tsuchiya , Keitaro Matsumoto, Tsutomu Tagawa, Junichi Arai
DOI: 10.12659/AJCR.941668
Am J Case Rep 2023; 24:e941668
845 60 0

08 Nov 2023 : Case report
Surgical Treatment of a Neglected Thumb Volar Plate Injury in an 11-Year-Old Girl: A Case Report
Theodoros Stavropoulos, Vasileios Giannatos , Vasileios Papathanidis, Anargyros Roumeliotis, Konstantinos Koutas, Zinon T. Kokkalis
DOI: 10.12659/AJCR.940411
Am J Case Rep 2023; 24:e940411
524 69 0

08 Nov 2023 : Case report
Surgical Treatment of a Neglected Thumb Volar Plate Injury in an 11-Year-Old Girl: A Case Report
Theodoros Stavropoulos, Vasileios Giannatos , Vasileios Papathanidis, Anargyros Roumeliotis, Konstantinos Koutas, Zinon T. Kokkalis
DOI: 10.12659/AJCR.940411
Am J Case Rep 2023; 24:e940411
524 69 0

06 Nov 2023 : Case report
Ileocolic Intussusception in Infancy is not Always Idiopathic – Adenomyoma as the Leading Point
Evangelos Blevrakis, Maria Stefanaki, Georgios Ntoulios, Panagiota Kafaraki , Galateia Datseri, Panagiota Elpida Kalemou, Aikaterini Rasouli, Georgios Blevrakis, Xenophon Sinopidis
DOI: 10.12659/AJCR.939789
Am J Case Rep 2023; 24:e939789
600 72 0

06 Nov 2023 : Case report
Ileocolic Intussusception in Infancy is not Always Idiopathic – Adenomyoma as the Leading Point
Evangelos Blevrakis, Maria Stefanaki, Georgios Ntoulios, Panagiota Kafaraki , Galateia Datseri, Panagiota Elpida Kalemou, Aikaterini Rasouli, Georgios Blevrakis, Xenophon Sinopidis
DOI: 10.12659/AJCR.939789
Am J Case Rep 2023; 24:e939789
600 72 0
In Press
07 Dec 2023 : Case report
Am J Case Rep In Press; DOI:
07 Dec 2023 : Case report
Am J Case Rep In Press; DOI:
07 Dec 2023 : Case report
Am J Case Rep In Press; DOI:
05 Dec 2023 : Case report
Am J Case Rep In Press; DOI:
Most Viewed Current Articles
06 Dec 2021 : Case report
DOI :10.12659/AJCR.934406
Am J Case Rep 2021; 22:e934406
07 Dec 2021 : Case report
DOI :10.12659/AJCR.934347
Am J Case Rep 2021; 22:e934347
19 Jul 2022 : Case report
DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
13 Jul 2022 : Case report
DOI :10.12659/AJCR.936441
Am J Case Rep 2022; 23:e936441