Rare disease

07 May 2025 : Case report
A Rare Case of Hypoxia and Cyanosis Secondary to Multifactorial Medication-Induced Sulfhemoglobinemia
Megan M. Mansour, Robert M. Seby, Aya Elalfy, Mario El Hayek, Tuhama S. Rihani, Edson J. Mwakyanjala, Libardo Rueda Prada
DOI: 10.12659/AJCR.947587
Am J Case Rep 2025; 26:e947587
1,237 5,080 0

07 May 2025 : Case report
A Rare Case of Hypoxia and Cyanosis Secondary to Multifactorial Medication-Induced Sulfhemoglobinemia
Megan M. Mansour, Robert M. Seby, Aya Elalfy, Mario El Hayek, Tuhama S. Rihani, Edson J. Mwakyanjala, Libardo Rueda Prada
DOI: 10.12659/AJCR.947587
Am J Case Rep 2025; 26:e947587
1237 5080 0

01 May 2025 : Case report
Fatal Acute Necrotizing Encephalopathy in a 17-Year-Old Girl with COVID-19: A Case Report
Jianming Zhu, Yanling Li, Jianyi Liu
, Chaojun Zhou, Xianglin Liu
, Yiyi Ding
DOI: 10.12659/AJCR.946932
Am J Case Rep 2025; 26:e946932
1,436 2,275 0

01 May 2025 : Case report
Fatal Acute Necrotizing Encephalopathy in a 17-Year-Old Girl with COVID-19: A Case Report
Jianming Zhu, Yanling Li, Jianyi Liu
, Chaojun Zhou, Xianglin Liu
, Yiyi Ding
DOI: 10.12659/AJCR.946932
Am J Case Rep 2025; 26:e946932
1436 2275 0

29 Apr 2025 : Case report
Secukinumab as a Novel Treatment for Chronic Netherton Syndrome in a Young Adult
Irma Buchukuri
, Giorgi Chalatashvili, Maia Gotua, Kakhaber Robakidze, Nino Khutsishvili, Nino Lortkipanidze
DOI: 10.12659/AJCR.946411
Am J Case Rep 2025; 26:e946411
1,194 3,685 0

29 Apr 2025 : Case report
Secukinumab as a Novel Treatment for Chronic Netherton Syndrome in a Young Adult
Irma Buchukuri
, Giorgi Chalatashvili, Maia Gotua, Kakhaber Robakidze, Nino Khutsishvili, Nino Lortkipanidze
DOI: 10.12659/AJCR.946411
Am J Case Rep 2025; 26:e946411
1194 3685 0

26 Apr 2025 : Case report
Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report
Peter B. Conroy, Sue Davel, Jacques A.J. Malherbe
, Simon J. Carrivick, Edward N. Briggs
DOI: 10.12659/AJCR.946969
Am J Case Rep 2025; 26:e946969
1,196 1,910 0

26 Apr 2025 : Case report
Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report
Peter B. Conroy, Sue Davel, Jacques A.J. Malherbe
, Simon J. Carrivick, Edward N. Briggs
DOI: 10.12659/AJCR.946969
Am J Case Rep 2025; 26:e946969
1196 1910 0

25 Apr 2025 : Case report
Agenesis of the Dorsal Pancreas and Its Possible Link to Pancreatic Neuroendocrine Tumors: Case Insights
Alessia Fassari
, Edoardo Rosso
, Jyoti Lakshmi Anafack, Vito De Blasi
DOI: 10.12659/AJCR.947512
Am J Case Rep 2025; 26:e947512
1,318 1,806 0

25 Apr 2025 : Case report
Agenesis of the Dorsal Pancreas and Its Possible Link to Pancreatic Neuroendocrine Tumors: Case Insights
Alessia Fassari
, Edoardo Rosso
, Jyoti Lakshmi Anafack, Vito De Blasi
DOI: 10.12659/AJCR.947512
Am J Case Rep 2025; 26:e947512
1318 1806 0

24 Apr 2025 : Case report
Multiple Myeloma Presenting as Breast Metastasis: Diagnostic Challenges and Case Analysis
Gloria Messina, Maria Antonia Fucile, Marianne Kupper, Marco Campitiello, Francesca Plastino, Pierre-Olivier Legros, Julie Egea
, Philippe Carassou, Giampaolo Tortora, Raffaele Longo
DOI: 10.12659/AJCR.945853
Am J Case Rep 2025; 26:e945853
1,176 2,902 0

24 Apr 2025 : Case report
Multiple Myeloma Presenting as Breast Metastasis: Diagnostic Challenges and Case Analysis
Gloria Messina, Maria Antonia Fucile, Marianne Kupper, Marco Campitiello, Francesca Plastino, Pierre-Olivier Legros, Julie Egea
, Philippe Carassou, Giampaolo Tortora, Raffaele Longo
DOI: 10.12659/AJCR.945853
Am J Case Rep 2025; 26:e945853
1176 2902 0

23 Apr 2025 : Case report
Neonatal Congenital Myasthenic Syndrome Linked to CHAT Gene Variants: A Case Report and Treatment Insights
Mohammed Rohi Khalil, Lone Walentin Laulund, Anna Julie Aavild Ploug
, Ida Coordt Elle, Jesper Fenger-Groen
DOI: 10.12659/AJCR.946839
Am J Case Rep 2025; 26:e946839
921 1,457 0

23 Apr 2025 : Case report
Neonatal Congenital Myasthenic Syndrome Linked to CHAT Gene Variants: A Case Report and Treatment Insights
Mohammed Rohi Khalil, Lone Walentin Laulund, Anna Julie Aavild Ploug
, Ida Coordt Elle, Jesper Fenger-Groen
DOI: 10.12659/AJCR.946839
Am J Case Rep 2025; 26:e946839
921 1457 0

22 Apr 2025 : Case report
Asymptomatic Postpartum Bradycardia: A Case of Spontaneous Resolution in a 34-Year-Old Woman
Nurliana Abd Nassir, Huzairi Sani
, Mohd Hafidzudin Zainal Abidin, Nur Amirah Shibraumalisi
DOI: 10.12659/AJCR.946560
Am J Case Rep 2025; 26:e946560
997 8,969 0

22 Apr 2025 : Case report
Asymptomatic Postpartum Bradycardia: A Case of Spontaneous Resolution in a 34-Year-Old Woman
Nurliana Abd Nassir, Huzairi Sani
, Mohd Hafidzudin Zainal Abidin, Nur Amirah Shibraumalisi
DOI: 10.12659/AJCR.946560
Am J Case Rep 2025; 26:e946560
997 8969 0

21 Apr 2025 : Case report
Middle-Lobe Bronchus Transection in Blunt Thoracic Trauma From a High-Speed Motor Vehicle Collision: A Case Report
Killen H. Briones-Claudett
, Mónica H. Briones-Claudett
, Killen H. Briones-Zamora
, Jaime Galo Benites Solís
, Carlos S. Ronquillo-Barzola
, William Johnny Jimenez Jimenez
, Zully Stefania Cedeño Robalino
, Maria Antonieta Touriz Bonifaz
, Pedro Barberan-Torres
, Michelle Grunauer Andrade
DOI: 10.12659/AJCR.946488
Am J Case Rep 2025; 26:e946488
1,113 1,911 0

21 Apr 2025 : Case report
Middle-Lobe Bronchus Transection in Blunt Thoracic Trauma From a High-Speed Motor Vehicle Collision: A Case Report
Killen H. Briones-Claudett
, Mónica H. Briones-Claudett
, Killen H. Briones-Zamora
, Jaime Galo Benites Solís
, Carlos S. Ronquillo-Barzola
, William Johnny Jimenez Jimenez
, Zully Stefania Cedeño Robalino
, Maria Antonieta Touriz Bonifaz
, Pedro Barberan-Torres
, Michelle Grunauer Andrade
DOI: 10.12659/AJCR.946488
Am J Case Rep 2025; 26:e946488
1113 1911 0

18 Apr 2025 : Case report
Diagnostic and Surgical Management of Nesidioblastosis in a 42-Year-Old Man with Refractory Hypoglycemia
Cleomar Ana de Souza Valentim
, Vivien Suemi Arimura
, Isabella De Melo Pompei
, Denis Bonvechio, Marcio Shimabuku Silva, Fabio José Turrini, Mariana Soares Dalla Mariga Jorgino, Andre Silva Valentim
DOI: 10.12659/AJCR.945453
Am J Case Rep 2025; 26:e945453
936 2,710 0

18 Apr 2025 : Case report
Diagnostic and Surgical Management of Nesidioblastosis in a 42-Year-Old Man with Refractory Hypoglycemia
Cleomar Ana de Souza Valentim
, Vivien Suemi Arimura
, Isabella De Melo Pompei
, Denis Bonvechio, Marcio Shimabuku Silva, Fabio José Turrini, Mariana Soares Dalla Mariga Jorgino, Andre Silva Valentim
DOI: 10.12659/AJCR.945453
Am J Case Rep 2025; 26:e945453
936 2710 0

15 Apr 2025 : Case report
Aggressive Squamous Cell Carcinoma of Unknown Primary: Isolated Inguinal Metastasis and Uncommon Progression
Beril Balci Topuz, Mustafa Seyyar, Meltem Ozturk Iyilikci, Gozde Ertunc, Elif Yumuk, Evren Uzun
DOI: 10.12659/AJCR.946689
Am J Case Rep 2025; 26:e946689
1,011 1,652 0

15 Apr 2025 : Case report
Aggressive Squamous Cell Carcinoma of Unknown Primary: Isolated Inguinal Metastasis and Uncommon Progression
Beril Balci Topuz, Mustafa Seyyar, Meltem Ozturk Iyilikci, Gozde Ertunc, Elif Yumuk, Evren Uzun
DOI: 10.12659/AJCR.946689
Am J Case Rep 2025; 26:e946689
1011 1652 0

14 Apr 2025 : Case report
Hemoptysis and Anabolic Steroids: A Case Report of Oxandrolone-Induced Bleeding
DOI: 10.12659/AJCR.945092
Am J Case Rep 2025; 26:e945092
1,551 2,575 0

14 Apr 2025 : Case report
Hemoptysis and Anabolic Steroids: A Case Report of Oxandrolone-Induced Bleeding
DOI: 10.12659/AJCR.945092
Am J Case Rep 2025; 26:e945092
1551 2575 0

12 Apr 2025 : Case report
Multidisciplinary Management of Ruptured Mycotic Internal Iliac Aneurysm with Iliaco-Colonic Fistula: A Case Report
Hannah Laubenstein, Gabriele Bauci, Florian Dick, Walter Brunner
DOI: 10.12659/AJCR.947853
Am J Case Rep 2025; 26:e947853
962 1,425 0

12 Apr 2025 : Case report
Multidisciplinary Management of Ruptured Mycotic Internal Iliac Aneurysm with Iliaco-Colonic Fistula: A Case Report
Hannah Laubenstein, Gabriele Bauci, Florian Dick, Walter Brunner
DOI: 10.12659/AJCR.947853
Am J Case Rep 2025; 26:e947853
962 1425 0

21 Mar 2025 : Case report
Pineal Region Angiolipoma Resection by Supracerebellar Infratentorial Endoscopic Approach: A Case Study
Bo Li, Zhenqiang Hao, Xuezhong Men, Peigang Lu, Weijie Zhu
DOI: 10.12659/AJCR.946852
Am J Case Rep 2025; 26:e946852
918 1,440 0

21 Mar 2025 : Case report
Pineal Region Angiolipoma Resection by Supracerebellar Infratentorial Endoscopic Approach: A Case Study
Bo Li, Zhenqiang Hao, Xuezhong Men, Peigang Lu, Weijie Zhu
DOI: 10.12659/AJCR.946852
Am J Case Rep 2025; 26:e946852
918 1440 0

22 Mar 2025 : Case report
Innovative Management of Brodie’s Abscess: Continuous Local Antibiotic Perfusion in a 14-Year-Old Patient
Kenichi Sawauchi
, Keisuke Oe, Tomoaki Fukui
, Yohei Kumabe
, Hirotsugu Muratsu, Ryosuke Kuroda, Akihiro Maruo
DOI: 10.12659/AJCR.947099
Am J Case Rep 2025; 26:e947099
1,402 2,763 0

22 Mar 2025 : Case report
Innovative Management of Brodie’s Abscess: Continuous Local Antibiotic Perfusion in a 14-Year-Old Patient
Kenichi Sawauchi
, Keisuke Oe, Tomoaki Fukui
, Yohei Kumabe
, Hirotsugu Muratsu, Ryosuke Kuroda, Akihiro Maruo
DOI: 10.12659/AJCR.947099
Am J Case Rep 2025; 26:e947099
1402 2763 0

20 Mar 2025 : Case report
Bilateral Papilledema in a Child with Spinal Myxopapillary Ependymoma: A Case Report
Qi-Yuan Song, Kui Lv, Tian-Yi Luo, Wei-Guo Cao, Hui Zhong
DOI: 10.12659/AJCR.946269
Am J Case Rep 2025; 26:e946269
2,277 3,121 0

20 Mar 2025 : Case report
Bilateral Papilledema in a Child with Spinal Myxopapillary Ependymoma: A Case Report
Qi-Yuan Song, Kui Lv, Tian-Yi Luo, Wei-Guo Cao, Hui Zhong
DOI: 10.12659/AJCR.946269
Am J Case Rep 2025; 26:e946269
2277 3121 0

13 Apr 2025 : Case report
Managing Life-Threatening Spontaneous Liver Rupture in Pregnancy: A Case Study
Saifon Chawanpaiboon
, Mahapop Janchua, Pimkul Luamprapat, Piramon Chawanpaiboon, Suphisara Maimaen
DOI: 10.12659/AJCR.946909
Am J Case Rep 2025; 26:e946909
1,247 3,099 0

13 Apr 2025 : Case report
Managing Life-Threatening Spontaneous Liver Rupture in Pregnancy: A Case Study
Saifon Chawanpaiboon
, Mahapop Janchua, Pimkul Luamprapat, Piramon Chawanpaiboon, Suphisara Maimaen
DOI: 10.12659/AJCR.946909
Am J Case Rep 2025; 26:e946909
1247 3099 0

10 Apr 2025 : Case report
Navigating Fertility Preservation in Epithelioid Peritoneal Mesothelioma: A Case Study
Daniel Wang Qiu
, Yi-Jin Lin Lee
, Garima Tripathi, Dito Anurogo
, Cheng-Fu Ni, Wei-Chin Chang
, Hao-Sheng Fu, J. Timothy Qiu
DOI: 10.12659/AJCR.946585
Am J Case Rep 2025; 26:e946585
1,784 2,282 0

10 Apr 2025 : Case report
Navigating Fertility Preservation in Epithelioid Peritoneal Mesothelioma: A Case Study
Daniel Wang Qiu
, Yi-Jin Lin Lee
, Garima Tripathi, Dito Anurogo
, Cheng-Fu Ni, Wei-Chin Chang
, Hao-Sheng Fu, J. Timothy Qiu
DOI: 10.12659/AJCR.946585
Am J Case Rep 2025; 26:e946585
1784 2282 0

21 Mar 2025 : Case report
Laparoscopic Repair of Ureteral Obturator Hernia Using Extended TAPP Technique: A Case Report
Jennifer Neureiter
, Tina Goerl, Claudia Tolla-Jensen, Reiko Wiessner
DOI: 10.12659/AJCR.948017
Am J Case Rep 2025; 26:e948017
1,039 1,993 0

21 Mar 2025 : Case report
Laparoscopic Repair of Ureteral Obturator Hernia Using Extended TAPP Technique: A Case Report
Jennifer Neureiter
, Tina Goerl, Claudia Tolla-Jensen, Reiko Wiessner
DOI: 10.12659/AJCR.948017
Am J Case Rep 2025; 26:e948017
1039 1993 0

04 Apr 2025 : Case report
Airway Management for Tracheal Perforation After Left Hemi-Thyroid Lobectomy: A Case Report
Masato Ryo
, Shunsaku Goto
, Keiko Hamada, Yasuko Nagasaka
DOI: 10.12659/AJCR.946437
Am J Case Rep 2025; 26:e946437
1,303 1,965 0

04 Apr 2025 : Case report
Airway Management for Tracheal Perforation After Left Hemi-Thyroid Lobectomy: A Case Report
Masato Ryo
, Shunsaku Goto
, Keiko Hamada, Yasuko Nagasaka
DOI: 10.12659/AJCR.946437
Am J Case Rep 2025; 26:e946437
1303 1965 0

08 Apr 2025 : Case report
Acremonium strictum Sphenoid Sinusitis in an Immunocompetent Patient
Yuting Wang, Qingzhong Liu, Huiming Sheng
, Shuohui Yang
DOI: 10.12659/AJCR.946501
Am J Case Rep 2025; 26:e946501
872 1,388 0

08 Apr 2025 : Case report
Acremonium strictum Sphenoid Sinusitis in an Immunocompetent Patient
Yuting Wang, Qingzhong Liu, Huiming Sheng
, Shuohui Yang
DOI: 10.12659/AJCR.946501
Am J Case Rep 2025; 26:e946501
872 1388 0

23 Mar 2025 : Case report
Early-Onset Autoimmune Hemolytic Anemia from Pembrolizumab in a Patient with Metastatic Lung Cancer: A Case Report
Femi Williams Adeoye
, Sanggeeta Surandran, Nida Jaffar, Shankari Serumadar, Gulshad Begum
DOI: 10.12659/AJCR.946630
Am J Case Rep 2025; 26:e946630
1,853 4,202 0

23 Mar 2025 : Case report
Early-Onset Autoimmune Hemolytic Anemia from Pembrolizumab in a Patient with Metastatic Lung Cancer: A Case Report
Femi Williams Adeoye
, Sanggeeta Surandran, Nida Jaffar, Shankari Serumadar, Gulshad Begum
DOI: 10.12659/AJCR.946630
Am J Case Rep 2025; 26:e946630
1853 4202 0

03 Apr 2025 : Case report
A Rare Case of Metastatic Adrenocorticotrophic Hormone – Secreting Pancreatic Neuroendocrine Tumor Causing Ectopic Cushing Syndrome in a 46-Year-Old Woman
Jessica Y. Huang, Nikitha A. Cherayil
, Paul Boyd
, Maher Ali, Shazia Samanani
DOI: 10.12659/AJCR.945653
Am J Case Rep 2025; 26:e945653
1,482 3,055 0

03 Apr 2025 : Case report
A Rare Case of Metastatic Adrenocorticotrophic Hormone – Secreting Pancreatic Neuroendocrine Tumor Causing Ectopic Cushing Syndrome in a 46-Year-Old Woman
Jessica Y. Huang, Nikitha A. Cherayil
, Paul Boyd
, Maher Ali, Shazia Samanani
DOI: 10.12659/AJCR.945653
Am J Case Rep 2025; 26:e945653
1482 3055 0

02 Apr 2025 : Case report
Two Case Reports of Interferon-γ Therapy in Patients with Aspergillus Tracheobronchitis Who Developed an Immunocompromised State After Severe Abdominal Sepsis
Teun Tramper, Jeroen Schouten, Matthijs Kox, Dorien Kiers
DOI: 10.12659/AJCR.945318
Am J Case Rep 2025; 26:e945318
1,109 2,164 0

02 Apr 2025 : Case report
Two Case Reports of Interferon-γ Therapy in Patients with Aspergillus Tracheobronchitis Who Developed an Immunocompromised State After Severe Abdominal Sepsis
Teun Tramper, Jeroen Schouten, Matthijs Kox, Dorien Kiers
DOI: 10.12659/AJCR.945318
Am J Case Rep 2025; 26:e945318
1109 2164 0

31 Mar 2025 : Case report
Overcoming Cytomegalovirus Induced Immune Thrombocytopenia in Immunocompetent Adults – A Case of Antiviral Therapy Efficacy
Sujatha Baddam, Mrudula Thiriveedi, Siddharth Patel
DOI: 10.12659/AJCR.947070
Am J Case Rep 2025; 26:e947070
1,375 1,972 0

31 Mar 2025 : Case report
Overcoming Cytomegalovirus Induced Immune Thrombocytopenia in Immunocompetent Adults – A Case of Antiviral Therapy Efficacy
Sujatha Baddam, Mrudula Thiriveedi, Siddharth Patel
DOI: 10.12659/AJCR.947070
Am J Case Rep 2025; 26:e947070
1375 1972 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952909
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950868
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952931
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952577
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