Rare disease

25 Nov 2020 : Case report
Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
Josef Finsterer, Franco Laccone
DOI: 10.12659/AJCR.927938
Am J Case Rep 2020; 21:e927938
2,778 1,671 0

25 Nov 2020 : Case report
Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
Josef Finsterer, Franco Laccone
DOI: 10.12659/AJCR.927938
Am J Case Rep 2020; 21:e927938
2778 1671 0

24 Nov 2020 : Case report
A 45-Year-Old Man with Scleroderma Renal Crisis Associated with a History of Systemic Sclerosis Sine Scleroderma
Panupong Hansrivijit, Kelechi F. Omeonu, Halimat O. Lawal, Mounika Gangireddy, Kinjal P. Gadhiya, Ravinder S. Dhatt
DOI: 10.12659/AJCR.927030
Am J Case Rep 2020; 21:e927030
3,914 3,671 0

24 Nov 2020 : Case report
A 45-Year-Old Man with Scleroderma Renal Crisis Associated with a History of Systemic Sclerosis Sine Scleroderma
Panupong Hansrivijit, Kelechi F. Omeonu, Halimat O. Lawal, Mounika Gangireddy, Kinjal P. Gadhiya, Ravinder S. Dhatt
DOI: 10.12659/AJCR.927030
Am J Case Rep 2020; 21:e927030
3914 3671 0

23 Nov 2020 : Case report
Cerebellar Vertigo as an Unspecific Initial Presentation of Creutzfeldt-Jakob Disease
Maham Mehmood, Haider Ghazanfar, Manjeet S. Dhallu, Eghosa Omoregie
DOI: 10.12659/AJCR.927955
Am J Case Rep 2020; 21:e927955
3,087 1,660 0

23 Nov 2020 : Case report
Cerebellar Vertigo as an Unspecific Initial Presentation of Creutzfeldt-Jakob Disease
Maham Mehmood, Haider Ghazanfar, Manjeet S. Dhallu, Eghosa Omoregie
DOI: 10.12659/AJCR.927955
Am J Case Rep 2020; 21:e927955
3087 1660 0

20 Nov 2020 : Case report
A Case of Streptococcus thoraltensis Bacteremia and Prosthetic Valve Endocarditis in a 68-Year-Old Vietnamese Man
Pham Dang Hai, Pham Nguyen Son, Nguyen Thi Thu Huong, Nguyen Thanh Binh, Le Thi Viet Hoa, Nguyen Manh Dung
DOI: 10.12659/AJCR.925752
Am J Case Rep 2020; 21:e925752
4,110 2,208 0

20 Nov 2020 : Case report
A Case of Streptococcus thoraltensis Bacteremia and Prosthetic Valve Endocarditis in a 68-Year-Old Vietnamese Man
Pham Dang Hai, Pham Nguyen Son, Nguyen Thi Thu Huong, Nguyen Thanh Binh, Le Thi Viet Hoa, Nguyen Manh Dung
DOI: 10.12659/AJCR.925752
Am J Case Rep 2020; 21:e925752
4110 2208 0

19 Nov 2020 : Case report
Symptomatic Giant Primary Nonparasitic Splenic Cyst Treated with Laparoscopic Decapsulation: A Case Report and Literature Review
Salah Termos, Feras Othman, Ali Aljewaied, Afaq Mahmoud Alkhalil, Mohammad Alhunaidi, Socrates Mathew Parayil, Fahad Alabdulghani
DOI: 10.12659/AJCR.927893
Am J Case Rep 2020; 21:e927893
4,948 2,714 0

19 Nov 2020 : Case report
Symptomatic Giant Primary Nonparasitic Splenic Cyst Treated with Laparoscopic Decapsulation: A Case Report and Literature Review
Salah Termos, Feras Othman, Ali Aljewaied, Afaq Mahmoud Alkhalil, Mohammad Alhunaidi, Socrates Mathew Parayil, Fahad Alabdulghani
DOI: 10.12659/AJCR.927893
Am J Case Rep 2020; 21:e927893
4948 2714 0

18 Nov 2020 : Case report
Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
Gustavo de Sousa Arantes Ferreira, Livia Claudio de Oliveira, Luiz Roberto de Sousa Ulisses, Andre Luis Conde Watanabe, Isabela Novais Medeiros, Helen Souto Siqueira Cardoso, Inara Creão da Costa Alves, Tiago Martins de Almeida, Laura Viana de Lima, Renata Pereira Fontoura, Eduardo Resende Sousa e Silva, Pollyana Lopes de Araújo
DOI: 10.12659/AJCR.927832
Am J Case Rep 2020; 21:e927832
3,641 2,047 0

18 Nov 2020 : Case report
Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
Gustavo de Sousa Arantes Ferreira, Livia Claudio de Oliveira, Luiz Roberto de Sousa Ulisses, Andre Luis Conde Watanabe, Isabela Novais Medeiros, Helen Souto Siqueira Cardoso, Inara Creão da Costa Alves, Tiago Martins de Almeida, Laura Viana de Lima, Renata Pereira Fontoura, Eduardo Resende Sousa e Silva, Pollyana Lopes de Araújo
DOI: 10.12659/AJCR.927832
Am J Case Rep 2020; 21:e927832
3641 2047 0

03 Dec 2020 : Case report
A Fatal Case of Kaposi Sarcoma Immune Reconstitution Syndrome (KS-IRIS) Complicated by Kaposi Sarcoma Inflammatory Cytokine Syndrome (KICS) or Multicentric Castleman Disease (MCD): A Case Report and Review
Igor Dumic, Milan Radovanovic, Oladapo Igandan, Ivana Savic, Charles W. Nordstrom, Djordje Jevtic, Anand Subramanian, Poornima Ramanan
DOI: 10.12659/AJCR.926433
Am J Case Rep 2020; 21:e926433
8,048 4,810 0

03 Dec 2020 : Case report
A Fatal Case of Kaposi Sarcoma Immune Reconstitution Syndrome (KS-IRIS) Complicated by Kaposi Sarcoma Inflammatory Cytokine Syndrome (KICS) or Multicentric Castleman Disease (MCD): A Case Report and Review
Igor Dumic, Milan Radovanovic, Oladapo Igandan, Ivana Savic, Charles W. Nordstrom, Djordje Jevtic, Anand Subramanian, Poornima Ramanan
DOI: 10.12659/AJCR.926433
Am J Case Rep 2020; 21:e926433
8048 4810 0

15 Nov 2020 : Case report
Langerhans Cell Histiocytosis with Uncommon Liver Involvement: A Case Report
Alfonso Reginelli, Maria Pignatiello, Fabrizio Urraro, Maria Paola Belfiore, Giorgio Toni, Giovanna Vacca, Salvatore Cappabianca
DOI: 10.12659/AJCR.923505
Am J Case Rep 2020; 21:e923505
3,080 2,735 0

15 Nov 2020 : Case report
Langerhans Cell Histiocytosis with Uncommon Liver Involvement: A Case Report
Alfonso Reginelli, Maria Pignatiello, Fabrizio Urraro, Maria Paola Belfiore, Giorgio Toni, Giovanna Vacca, Salvatore Cappabianca
DOI: 10.12659/AJCR.923505
Am J Case Rep 2020; 21:e923505
3080 2735 0

13 Nov 2020 : Case report
Contrast-Induced Transient Neurological Symptoms Following Percutaneous Coronary Intervention: A Case Report
Aishah Albakr, Noman Ishaque, Danah Aljaafari, Sabah N. Sairafi
DOI: 10.12659/AJCR.926956
Am J Case Rep 2020; 21:e926956
3,074 1,740 0

13 Nov 2020 : Case report
Contrast-Induced Transient Neurological Symptoms Following Percutaneous Coronary Intervention: A Case Report
Aishah Albakr, Noman Ishaque, Danah Aljaafari, Sabah N. Sairafi
DOI: 10.12659/AJCR.926956
Am J Case Rep 2020; 21:e926956
3074 1740 0

12 Nov 2020 : Case report
Possible Azithromycin-Induced Life-Threatening Arrhythmia Requiring Extracorporeal Membrane Oxygenation Support: A Case Report
Abdulrazaq S. Al-Jazairi, Haifa S. Alotaibi
DOI: 10.12659/AJCR.926951
Am J Case Rep 2020; 21:e926951
3,183 2,643 0

12 Nov 2020 : Case report
Possible Azithromycin-Induced Life-Threatening Arrhythmia Requiring Extracorporeal Membrane Oxygenation Support: A Case Report
Abdulrazaq S. Al-Jazairi, Haifa S. Alotaibi
DOI: 10.12659/AJCR.926951
Am J Case Rep 2020; 21:e926951
3183 2643 0

12 Nov 2020 : Case report
IgG4-Related Fibrous Thyroiditis (Riedel’s Thyroiditis): A Case Report
Valeria Navarro-Sánchez, Luis Antonio Marín-Castañeda, Cecilia A. Gallegos, Oscar Quiroz, Miguel Ahumada-Ayala
DOI: 10.12659/AJCR.928046
Am J Case Rep 2020; 21:e928046
3,754 4,018 0

12 Nov 2020 : Case report
IgG4-Related Fibrous Thyroiditis (Riedel’s Thyroiditis): A Case Report
Valeria Navarro-Sánchez, Luis Antonio Marín-Castañeda, Cecilia A. Gallegos, Oscar Quiroz, Miguel Ahumada-Ayala
DOI: 10.12659/AJCR.928046
Am J Case Rep 2020; 21:e928046
3754 4018 0

11 Nov 2020 : Case report
Cardiac Amyloidosis Detected on Imaging of Patients with Heart Failure
Siniša Roginić, Ozren Vinter, Matias Trbušić, Martina Roginić, Edina Ćatić Ćuti
DOI: 10.12659/AJCR.926290
Am J Case Rep 2020; 21:e926290
3,589 2,188 0

11 Nov 2020 : Case report
Cardiac Amyloidosis Detected on Imaging of Patients with Heart Failure
Siniša Roginić, Ozren Vinter, Matias Trbušić, Martina Roginić, Edina Ćatić Ćuti
DOI: 10.12659/AJCR.926290
Am J Case Rep 2020; 21:e926290
3589 2188 0

09 Nov 2020 : Case report
Diffuse Pulmonary Meningotheliomatosis: A Rare Lung Disease Presenting with Diffuse Ground-Glass Opacities and Cavitation
Adham K. Alkurashi, Yahya Almodallal, Hasan Ahmad Hasan Albitar, John C. Cheville, Vivek N. Iyer
DOI: 10.12659/AJCR.926172
Am J Case Rep 2020; 21:e926172
4,311 2,524 0

09 Nov 2020 : Case report
Diffuse Pulmonary Meningotheliomatosis: A Rare Lung Disease Presenting with Diffuse Ground-Glass Opacities and Cavitation
Adham K. Alkurashi, Yahya Almodallal, Hasan Ahmad Hasan Albitar, John C. Cheville, Vivek N. Iyer
DOI: 10.12659/AJCR.926172
Am J Case Rep 2020; 21:e926172
4311 2524 0

08 Nov 2020 : Case report
The Role of Ultrasound in Dunbar Syndrome: Lessons Based on a Case Report
Renato Farina, Pietro Valerio Foti, Andrea Conti, Francesco Aldo Iannace, Isabella Pennisi, Serafino Santonocito, Luigi Fanzone, Giuseppe Mazzone, Stefano Palmucci, Antonio Basile
DOI: 10.12659/AJCR.926778
Am J Case Rep 2020; 21:e926778
7,988 6,083 0

08 Nov 2020 : Case report
The Role of Ultrasound in Dunbar Syndrome: Lessons Based on a Case Report
Renato Farina, Pietro Valerio Foti, Andrea Conti, Francesco Aldo Iannace, Isabella Pennisi, Serafino Santonocito, Luigi Fanzone, Giuseppe Mazzone, Stefano Palmucci, Antonio Basile
DOI: 10.12659/AJCR.926778
Am J Case Rep 2020; 21:e926778
7988 6083 0

07 Nov 2020 : Case report
A Rare Case of a Primary Spinal Solitary Fibrous Tumor/Hemangiopericytoma in a 9-Month-Old Patient
Edrick G. Lugo Millan, Hans W. Hess, Juan Carlos Carballo-Santiago, Roman Velez-Rosario, Eduardo J. Labat
DOI: 10.12659/AJCR.923176
Am J Case Rep 2020; 21:e923176
3,155 1,522 0

07 Nov 2020 : Case report
A Rare Case of a Primary Spinal Solitary Fibrous Tumor/Hemangiopericytoma in a 9-Month-Old Patient
Edrick G. Lugo Millan, Hans W. Hess, Juan Carlos Carballo-Santiago, Roman Velez-Rosario, Eduardo J. Labat
DOI: 10.12659/AJCR.923176
Am J Case Rep 2020; 21:e923176
3155 1522 0

06 Nov 2020 : Case report
Parapharyngeal Neuroglial Heterotopia: A Case Report and Literature Review
Hoda A. Alsayid, Ibrahim S. Alnoury
DOI: 10.12659/AJCR.926300
Am J Case Rep 2020; 21:e926300
3,333 1,559 0

06 Nov 2020 : Case report
Parapharyngeal Neuroglial Heterotopia: A Case Report and Literature Review
Hoda A. Alsayid, Ibrahim S. Alnoury
DOI: 10.12659/AJCR.926300
Am J Case Rep 2020; 21:e926300
3333 1559 0

06 Nov 2020 : Case report
Surgical Treatment of Celiacomesenteric Trunk Aneurysm: Report of 2 Cases
Atsumi Oishi, Taira Yamamoto, Kan Kajimoto, Atsushi Amano
DOI: 10.12659/AJCR.927077
Am J Case Rep 2020; 21:e927077
2,241 2,035 0

06 Nov 2020 : Case report
Surgical Treatment of Celiacomesenteric Trunk Aneurysm: Report of 2 Cases
Atsumi Oishi, Taira Yamamoto, Kan Kajimoto, Atsushi Amano
DOI: 10.12659/AJCR.927077
Am J Case Rep 2020; 21:e927077
2241 2035 0

05 Nov 2020 : Case report
Refractory Urticaria with Raised Antistreptolysin O (ASO) Titer: An Intriguing Case of Adult-Onset Still’s Disease
Abdulkarim Y. Aldehaim, Norah A. Alnegheimish, Amany A. Fathaddin
DOI: 10.12659/AJCR.927936
Am J Case Rep 2020; 21:e927936
4,556 3,692 0

05 Nov 2020 : Case report
Refractory Urticaria with Raised Antistreptolysin O (ASO) Titer: An Intriguing Case of Adult-Onset Still’s Disease
Abdulkarim Y. Aldehaim, Norah A. Alnegheimish, Amany A. Fathaddin
DOI: 10.12659/AJCR.927936
Am J Case Rep 2020; 21:e927936
4556 3692 0

31 Oct 2020 : Case report
A 44-Year-Old Hispanic Man with Loss of Taste and Bilateral Facial Weakness Diagnosed with Guillain-Barré Syndrome and Bell’s Palsy Associated with SARS-CoV-2 Infection Treated with Intravenous Immunoglobulin
Misbahuddin Khaja, Gabriella P. Roa Gomez, Yaneidy Santana, Nolberto Hernandez, Asim Haider, Jose Luis Perez Lara, Rene Elkin
DOI: 10.12659/AJCR.927956
Am J Case Rep 2020; 21:e927956
6,796 4,360 0

31 Oct 2020 : Case report
A 44-Year-Old Hispanic Man with Loss of Taste and Bilateral Facial Weakness Diagnosed with Guillain-Barré Syndrome and Bell’s Palsy Associated with SARS-CoV-2 Infection Treated with Intravenous Immunoglobulin
Misbahuddin Khaja, Gabriella P. Roa Gomez, Yaneidy Santana, Nolberto Hernandez, Asim Haider, Jose Luis Perez Lara, Rene Elkin
DOI: 10.12659/AJCR.927956
Am J Case Rep 2020; 21:e927956
6796 4360 0

29 Oct 2020 : Case report
Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation
Diego A. Ávila-Sánchez, Esther Cambronero-Cortinas, Manuel Barreiro-Pérez, Juan L. Rodríguez-Hernández, Brais Díaz-Fernández, Pedro L. Sánchez
DOI: 10.12659/AJCR.925631
Am J Case Rep 2020; 21:e925631
3,578 1,847 0

29 Oct 2020 : Case report
Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation
Diego A. Ávila-Sánchez, Esther Cambronero-Cortinas, Manuel Barreiro-Pérez, Juan L. Rodríguez-Hernández, Brais Díaz-Fernández, Pedro L. Sánchez
DOI: 10.12659/AJCR.925631
Am J Case Rep 2020; 21:e925631
3578 1847 0

02 Oct 2020 : Case report
Volumetric Flow Changes in Extracranial Arteries in a Symptomatic Patient with Significant Bilateral Carotid Artery Stenosis: A Case Study and Literature Review
Jerzy Leszczyński, Piotr Kaszczewski, Michał Elwertowski, Kamil Stępkowski, Rafał Maciąg, Aleksandra Elwertowska, Zbigniew Gałązka
DOI: 10.12659/AJCR.927202
Am J Case Rep 2020; 21:e927202
4,235 1,958 0

02 Oct 2020 : Case report
Volumetric Flow Changes in Extracranial Arteries in a Symptomatic Patient with Significant Bilateral Carotid Artery Stenosis: A Case Study and Literature Review
Jerzy Leszczyński, Piotr Kaszczewski, Michał Elwertowski, Kamil Stępkowski, Rafał Maciąg, Aleksandra Elwertowska, Zbigniew Gałązka
DOI: 10.12659/AJCR.927202
Am J Case Rep 2020; 21:e927202
4235 1958 0

27 Oct 2020 : Case report
A 47-Year-Old Woman with Immunoglobulin G4 (IgG4)-Related Disease Involving the Right Ovary
Mohammed S. Alorjani, Nail A. Obeidat, Emad I. Ababneh, Abdulrahman A. Salem, Ismail I Matalka
DOI: 10.12659/AJCR.926803
Am J Case Rep 2020; 21:e926803
2,839 1,448 0

27 Oct 2020 : Case report
A 47-Year-Old Woman with Immunoglobulin G4 (IgG4)-Related Disease Involving the Right Ovary
Mohammed S. Alorjani, Nail A. Obeidat, Emad I. Ababneh, Abdulrahman A. Salem, Ismail I Matalka
DOI: 10.12659/AJCR.926803
Am J Case Rep 2020; 21:e926803
2839 1448 0

24 Oct 2020 : Case report
Delayed Presentation of Acute Generalized Exanthematous Pustulosis Following Treatment with Cefepime in a Patient with COVID-19 without the Use of Hydroxychloroquine
Samantha Haraszti, Selin Sendil, Nichole Jensen
DOI: 10.12659/AJCR.926901
Am J Case Rep 2020; 21:e926901
5,700 2,912 0

24 Oct 2020 : Case report
Delayed Presentation of Acute Generalized Exanthematous Pustulosis Following Treatment with Cefepime in a Patient with COVID-19 without the Use of Hydroxychloroquine
Samantha Haraszti, Selin Sendil, Nichole Jensen
DOI: 10.12659/AJCR.926901
Am J Case Rep 2020; 21:e926901
5700 2912 0

27 Oct 2020 : Case report
Neonatal Acute Lymphoblastic Leukemia with t(9;11) Translocation Presenting as Blueberry Muffin Baby: Successful Treatment by ALL-BFM Induction Therapy, Allogeneic Stem Cell Transplantation from an Unrelated Donor, and PCR-MRD-Guided Post-Transplant Follow-Up
Simon Schlegel, Henning Hamm, Alexandra Reichel, Hermann Kneitz, Karen Ernestus, Oliver Andres, Verena G. Wiegering, Matthias Eyrich, Matthias Wölfl, Paul-Gerhardt Schlegel
DOI: 10.12659/AJCR.927153
Am J Case Rep 2020; 21:e927153
5,173 4,058 0

27 Oct 2020 : Case report
Neonatal Acute Lymphoblastic Leukemia with t(9;11) Translocation Presenting as Blueberry Muffin Baby: Successful Treatment by ALL-BFM Induction Therapy, Allogeneic Stem Cell Transplantation from an Unrelated Donor, and PCR-MRD-Guided Post-Transplant Follow-Up
Simon Schlegel, Henning Hamm, Alexandra Reichel, Hermann Kneitz, Karen Ernestus, Oliver Andres, Verena G. Wiegering, Matthias Eyrich, Matthias Wölfl, Paul-Gerhardt Schlegel
DOI: 10.12659/AJCR.927153
Am J Case Rep 2020; 21:e927153
5173 4058 0

22 Oct 2020 : Case report
Iatrogenic Cerebral Air Embolism During Esophago-Gastroduodenoscopy
Manuel Betancourt-Torres, Adriana Perez-Torres, Laura Figueroa-Diaz, Eduardo J. Labat Alvarez
DOI: 10.12659/AJCR.925046
Am J Case Rep 2020; 21:e925046
3,667 2,198 0

22 Oct 2020 : Case report
Iatrogenic Cerebral Air Embolism During Esophago-Gastroduodenoscopy
Manuel Betancourt-Torres, Adriana Perez-Torres, Laura Figueroa-Diaz, Eduardo J. Labat Alvarez
DOI: 10.12659/AJCR.925046
Am J Case Rep 2020; 21:e925046
3667 2198 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952921
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953836
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953506
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953059
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