Rare disease

18 May 2018 : Case report
Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
Ali Canbay, Meike N. Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
DOI: 10.12659/AJCR.907755
Am J Case Rep 2018; 19:577-581
2,999 1,433 0

18 May 2018 : Case report
Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
Ali Canbay, Meike N. Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
DOI: 10.12659/AJCR.907755
Am J Case Rep 2018; 19:577-581
2999 1433 0

10 May 2018 : Case report
A Case of Perforated Jejunal Diverticulum: An Unexpected Cause of Pneumoperitoneum in a Patient Presenting with an Acute Abdomen
Bruno Augusto Alves Martins, Rosana Rodrigues Galletti, Júlio Marinho dos Santos Neto, Caroline Neiva Mendes
DOI: 10.12659/AJCR.909131
Am J Case Rep 2018; 19:549-552
2,634 906 0

10 May 2018 : Case report
A Case of Perforated Jejunal Diverticulum: An Unexpected Cause of Pneumoperitoneum in a Patient Presenting with an Acute Abdomen
Bruno Augusto Alves Martins, Rosana Rodrigues Galletti, Júlio Marinho dos Santos Neto, Caroline Neiva Mendes
DOI: 10.12659/AJCR.909131
Am J Case Rep 2018; 19:549-552
2634 906 0

09 May 2018 : Case report
A Rare Case of Complete Esophageal Obstruction Following Esophageal Variceal Band Ligation (EVBL) for Esophageal Varices Performed by Esophagogastroduodenoscopy (EGD)
Muhammad Aziz, Beth Floyd, Tuba Esfandyari
DOI: 10.12659/AJCR.908232
Am J Case Rep 2018; 19:545-548
2,923 1,813 0

09 May 2018 : Case report
A Rare Case of Complete Esophageal Obstruction Following Esophageal Variceal Band Ligation (EVBL) for Esophageal Varices Performed by Esophagogastroduodenoscopy (EGD)
Muhammad Aziz, Beth Floyd, Tuba Esfandyari
DOI: 10.12659/AJCR.908232
Am J Case Rep 2018; 19:545-548
2923 1813 0

04 May 2018 : Case report
Total Gastric Necrosis Due to Mucormycosis: A Rare Case of Gastric Perforation
Salah Termos, Feras Othman, Mohammad Alali, Bader M.S. Al Bader, Talal Alkhadher, Wael Fathi Hassanaiah, Ali Taqi, Abhijit Sapkal
DOI: 10.12659/AJCR.908952
Am J Case Rep 2018; 19:527-533
3,354 1,279 0

04 May 2018 : Case report
Total Gastric Necrosis Due to Mucormycosis: A Rare Case of Gastric Perforation
Salah Termos, Feras Othman, Mohammad Alali, Bader M.S. Al Bader, Talal Alkhadher, Wael Fathi Hassanaiah, Ali Taqi, Abhijit Sapkal
DOI: 10.12659/AJCR.908952
Am J Case Rep 2018; 19:527-533
3354 1279 0

30 Apr 2018 : Case report
Clinical Benefit from Tyrosine Kinase Inhibitors in Metastatic Merkel Cell Carcinoma: A Case Series of 5 Patients
Erica S. Tarabadkar, Hannah Thomas, Astrid Blom, Upendra Parvathaneni, Thomas Olencki, Paul Nghiem, Shailender Bhatia
DOI: 10.12659/AJCR.908649
Am J Case Rep 2018; 19:505-511
3,185 983 0

30 Apr 2018 : Case report
Clinical Benefit from Tyrosine Kinase Inhibitors in Metastatic Merkel Cell Carcinoma: A Case Series of 5 Patients
Erica S. Tarabadkar, Hannah Thomas, Astrid Blom, Upendra Parvathaneni, Thomas Olencki, Paul Nghiem, Shailender Bhatia
DOI: 10.12659/AJCR.908649
Am J Case Rep 2018; 19:505-511
3185 983 0

28 Apr 2018 : Case report
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center
Hebah M. Musalem, Qais S. Dirar, Selwa A.F. Al-Hazzaa, Abdul-Aziz A. Al Zoba, Jeylan El-Mansoury
DOI: 10.12659/AJCR.908036
Am J Case Rep 2018; 19:500-504
2,862 1,066 0

28 Apr 2018 : Case report
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center
Hebah M. Musalem, Qais S. Dirar, Selwa A.F. Al-Hazzaa, Abdul-Aziz A. Al Zoba, Jeylan El-Mansoury
DOI: 10.12659/AJCR.908036
Am J Case Rep 2018; 19:500-504
2862 1066 0

25 Apr 2018 : Case report
Urbanorum Spp: First Report in Brazil
Raí Pablo Sousa de Aguiar, Lumar Lucena Alves
DOI: 10.12659/AJCR.908653
Am J Case Rep 2018; 19:486-490
3,196 971 0

25 Apr 2018 : Case report
Urbanorum Spp: First Report in Brazil
Raí Pablo Sousa de Aguiar, Lumar Lucena Alves
DOI: 10.12659/AJCR.908653
Am J Case Rep 2018; 19:486-490
3196 971 0

23 Apr 2018 : Case report
Lipid-Rich Variant of Urothelial Carcinoma Presenting as the Dominant Morphology in a Recurrent Tumor After Local Therapy
Archi Patel, Rowena E. Velilla, Muhammad Salah Shurbaji
DOI: 10.12659/AJCR.908317
Am J Case Rep 2018; 19:478-481
2,415 906 0

23 Apr 2018 : Case report
Lipid-Rich Variant of Urothelial Carcinoma Presenting as the Dominant Morphology in a Recurrent Tumor After Local Therapy
Archi Patel, Rowena E. Velilla, Muhammad Salah Shurbaji
DOI: 10.12659/AJCR.908317
Am J Case Rep 2018; 19:478-481
2415 906 0

20 Apr 2018 : Case report
Hirschsprung's Disease-Related Giant Sigmoid Volvulus Complicated by Refractory Hypertension in an Elderly Man
Shaohan Wu, Xiaofang Sun, Yawei Yu, Yiyu Shen
DOI: 10.12659/AJCR.908389
Am J Case Rep 2018; 19:467-471
2,904 1,281 0

20 Apr 2018 : Case report
Hirschsprung's Disease-Related Giant Sigmoid Volvulus Complicated by Refractory Hypertension in an Elderly Man
Shaohan Wu, Xiaofang Sun, Yawei Yu, Yiyu Shen
DOI: 10.12659/AJCR.908389
Am J Case Rep 2018; 19:467-471
2904 1281 0

17 Apr 2018 : Case report
Acute Lymphoblastic Leukemia Presenting with Liver Infiltration and Severe Lactic Acidosis
Ayman Hassan Sayyed, Aamer Aleem, Mohammad Sami Al-Katari, Fatma Algahtani, Khaldoon Aljerian, Talha A. Aleem, Khalid Alsaleh
DOI: 10.12659/AJCR.907383
Am J Case Rep 2018; 19:453-457
3,517 1,282 0

17 Apr 2018 : Case report
Acute Lymphoblastic Leukemia Presenting with Liver Infiltration and Severe Lactic Acidosis
Ayman Hassan Sayyed, Aamer Aleem, Mohammad Sami Al-Katari, Fatma Algahtani, Khaldoon Aljerian, Talha A. Aleem, Khalid Alsaleh
DOI: 10.12659/AJCR.907383
Am J Case Rep 2018; 19:453-457
3517 1282 0

13 Apr 2018 : Case report
A Rare Case of Relapsed Pediatric Acute Promyelocytic Leukemia with Skin Involvement by Myeloid Sarcoma
Nathalia Silva Araújo, Claudio José dos Santos Júnior, Vitória Mikaelly da Silva Gomes, Luiz Arthur Calheiros Leite, Luana Novaes Bomfim, Amanda Katielly Firmino da Silva Gusmão, Maria Jordana Rocha Gomes Alves, Cyndi Myrelle da Silva Barros Romão, Arthur Moacir Costa Sampaio Batinga, Maria Rosa da Silva, Célio Fernando de Sousa Rodrigues
DOI: 10.12659/AJCR.907847
Am J Case Rep 2018; 19:438-441
2,671 800 0

13 Apr 2018 : Case report
A Rare Case of Relapsed Pediatric Acute Promyelocytic Leukemia with Skin Involvement by Myeloid Sarcoma
Nathalia Silva Araújo, Claudio José dos Santos Júnior, Vitória Mikaelly da Silva Gomes, Luiz Arthur Calheiros Leite, Luana Novaes Bomfim, Amanda Katielly Firmino da Silva Gusmão, Maria Jordana Rocha Gomes Alves, Cyndi Myrelle da Silva Barros Romão, Arthur Moacir Costa Sampaio Batinga, Maria Rosa da Silva, Célio Fernando de Sousa Rodrigues
DOI: 10.12659/AJCR.907847
Am J Case Rep 2018; 19:438-441
2671 800 0

10 Apr 2018 : Case report
Corneal Opacity Leading to Multiple Myeloma Diagnosis: A Case Report and Literature Review
Naiyang Li, Zhe Zhu, Gengrong Yi, Sheng Li, Xiaotong Han
DOI: 10.12659/AJCR.908475
Am J Case Rep 2018; 19:421-425
2,846 927 0

10 Apr 2018 : Case report
Corneal Opacity Leading to Multiple Myeloma Diagnosis: A Case Report and Literature Review
Naiyang Li, Zhe Zhu, Gengrong Yi, Sheng Li, Xiaotong Han
DOI: 10.12659/AJCR.908475
Am J Case Rep 2018; 19:421-425
2846 927 0

05 Apr 2018 : Case report
Cervical Esophagotomy for Foreign Body Extraction: A Case Report and Extensive Literature Review of the Last 20 Years
Pasquale Cianci, Nicola Tartaglia, Amedeo Altamura, Alessandra Di Lascia, Alberto Fersini, Vincenzo Neri, Antonio Ambrosi
DOI: 10.12659/AJCR.908373
Am J Case Rep 2018; 19:400-405
2,618 691 0

05 Apr 2018 : Case report
Cervical Esophagotomy for Foreign Body Extraction: A Case Report and Extensive Literature Review of the Last 20 Years
Pasquale Cianci, Nicola Tartaglia, Amedeo Altamura, Alessandra Di Lascia, Alberto Fersini, Vincenzo Neri, Antonio Ambrosi
DOI: 10.12659/AJCR.908373
Am J Case Rep 2018; 19:400-405
2618 691 0

30 Mar 2018 : Case report
Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene
Karlos Z. Oregel, Geoffrey P. Shouse, Cyrus Oster, Freddy Martinez, Jun Wang, Michael Rosenzweig, Jeremy K. Deisch, Chien-Shing Chen, Gayathri Nagaraj
DOI: 10.12659/AJCR.907550
Am J Case Rep 2018; 19:374-381
2,302 847 0

30 Mar 2018 : Case report
Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene
Karlos Z. Oregel, Geoffrey P. Shouse, Cyrus Oster, Freddy Martinez, Jun Wang, Michael Rosenzweig, Jeremy K. Deisch, Chien-Shing Chen, Gayathri Nagaraj
DOI: 10.12659/AJCR.907550
Am J Case Rep 2018; 19:374-381
2302 847 0

28 Mar 2018 : Case report
Torsion of the Vermiform Appendix: A Case Report and Review of Literature
Wan Amir Wan Hassan, Yeng Kwang Tay, Marjan Ghadiri
DOI: 10.12659/AJCR.908725
Am J Case Rep 2018; 19:365-368
2,592 908 0

28 Mar 2018 : Case report
Torsion of the Vermiform Appendix: A Case Report and Review of Literature
Wan Amir Wan Hassan, Yeng Kwang Tay, Marjan Ghadiri
DOI: 10.12659/AJCR.908725
Am J Case Rep 2018; 19:365-368
2592 908 0

25 Mar 2018 : Case report
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova
DOI: 10.12659/AJCR.907395
Am J Case Rep 2018; 19:347-353
2,582 779 0

25 Mar 2018 : Case report
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova
DOI: 10.12659/AJCR.907395
Am J Case Rep 2018; 19:347-353
2582 779 0

23 Mar 2018 : Case report
Splenic Rupture as the First Manifestation of Babesia Microti Infection: Report of a Case and Review of Literature
Igor Dumic, Janki Patel, Melissa Hart, Eric R. Niendorf, Scott Martin, Poornima Ramanan
DOI: 10.12659/AJCR.908453
Am J Case Rep 2018; 19:335-341
3,350 1,204 0

23 Mar 2018 : Case report
Splenic Rupture as the First Manifestation of Babesia Microti Infection: Report of a Case and Review of Literature
Igor Dumic, Janki Patel, Melissa Hart, Eric R. Niendorf, Scott Martin, Poornima Ramanan
DOI: 10.12659/AJCR.908453
Am J Case Rep 2018; 19:335-341
3350 1204 0

22 Mar 2018 : Case report
Pyogenic Ventriculitis and Meningitis Caused by Streptococcus Acidominimus in Humans: A Case Report
Gaurang S. Shah
DOI: 10.12659/AJCR.908000
Am J Case Rep 2018; 19:329-334
2,937 996 0

22 Mar 2018 : Case report
Pyogenic Ventriculitis and Meningitis Caused by Streptococcus Acidominimus in Humans: A Case Report
Gaurang S. Shah
DOI: 10.12659/AJCR.908000
Am J Case Rep 2018; 19:329-334
2937 996 0

18 Mar 2018 : Case report
A Case of Lown-Ganong-Levine Syndrome: Due to an Accessory Pathway of James Fibers or Enhanced Atrioventricular Nodal Conduction (EAVNC)?
Juanita Hunter, Emmanouil Tsounias, John Cogan, Ming-Lon Young
DOI: 10.12659/AJCR.906767
Am J Case Rep 2018; 19:309-313
3,973 3,489 0

18 Mar 2018 : Case report
A Case of Lown-Ganong-Levine Syndrome: Due to an Accessory Pathway of James Fibers or Enhanced Atrioventricular Nodal Conduction (EAVNC)?
Juanita Hunter, Emmanouil Tsounias, John Cogan, Ming-Lon Young
DOI: 10.12659/AJCR.906767
Am J Case Rep 2018; 19:309-313
3973 3489 0

17 Mar 2018 : Case report
Living Donor Liver Transplantation for Wilson’s Disease Associated with Fulminant Hepatic Failure: A Case Report
Yu Huang, Mitsuhisa Takatsuki, Akihiko Soyama, Masaaki Hidaka, Shinichiro Ono, Tomohiko Adachi, Takanobu Hara, Satomi Okada, Takashi Hamada, Susumu Eguchi
DOI: 10.12659/AJCR.907494
Am J Case Rep 2018; 19:304-308
2,602 923 0

17 Mar 2018 : Case report
Living Donor Liver Transplantation for Wilson’s Disease Associated with Fulminant Hepatic Failure: A Case Report
Yu Huang, Mitsuhisa Takatsuki, Akihiko Soyama, Masaaki Hidaka, Shinichiro Ono, Tomohiko Adachi, Takanobu Hara, Satomi Okada, Takashi Hamada, Susumu Eguchi
DOI: 10.12659/AJCR.907494
Am J Case Rep 2018; 19:304-308
2602 923 0

14 Mar 2018 : Case report
A Case of Low-Grade Primary Cardiac Lymphoma with Pericardial Effusion Diagnosed by Combined 18F-Fluorodeoxyglucose Positron Emission Tomography and Computed Tomography (FDG-PET/CT) Imaging and Effusion Cytology
Hisanori Fukunaga, Yasuko Tatewaki, Tatsushi Mutoh, Hideo Shimomura, Shuzo Yamamoto, Chiaki Terao, Tomoko Totsune, Manabu Nakagawa, Yasuyuki Taki
DOI: 10.12659/AJCR.908385
Am J Case Rep 2018; 19:292-295
2,397 866 0

14 Mar 2018 : Case report
A Case of Low-Grade Primary Cardiac Lymphoma with Pericardial Effusion Diagnosed by Combined 18F-Fluorodeoxyglucose Positron Emission Tomography and Computed Tomography (FDG-PET/CT) Imaging and Effusion Cytology
Hisanori Fukunaga, Yasuko Tatewaki, Tatsushi Mutoh, Hideo Shimomura, Shuzo Yamamoto, Chiaki Terao, Tomoko Totsune, Manabu Nakagawa, Yasuyuki Taki
DOI: 10.12659/AJCR.908385
Am J Case Rep 2018; 19:292-295
2397 866 0

12 Mar 2018 : Case report
A Case of Carcinoid Syndrome Due to Malignant Metastatic Carcinoid Tumor with Carcinoid Heart Disease Involving Four Cardiac Valves
Brianna J. Shinn, Laura J. Tafe, Pantila Vanichakarn
DOI: 10.12659/AJCR.906486
Am J Case Rep 2018; 19:284-288
2,328 680 0

12 Mar 2018 : Case report
A Case of Carcinoid Syndrome Due to Malignant Metastatic Carcinoid Tumor with Carcinoid Heart Disease Involving Four Cardiac Valves
Brianna J. Shinn, Laura J. Tafe, Pantila Vanichakarn
DOI: 10.12659/AJCR.906486
Am J Case Rep 2018; 19:284-288
2328 680 0

08 Mar 2018 : Case report
Multiple Lymphomatous Polyposis of the Intestine with Ileocecal Intussusception Due to Mantle Cell Lymphoma: A Case Report of a 34-Year-Old Man
Chuan-gao Xie, Xiao-ming Xu, Shu-mei Wei
DOI: 10.12659/AJCR.907804
Am J Case Rep 2018; 19:262-266
2,834 770 0

08 Mar 2018 : Case report
Multiple Lymphomatous Polyposis of the Intestine with Ileocecal Intussusception Due to Mantle Cell Lymphoma: A Case Report of a 34-Year-Old Man
Chuan-gao Xie, Xiao-ming Xu, Shu-mei Wei
DOI: 10.12659/AJCR.907804
Am J Case Rep 2018; 19:262-266
2834 770 0

02 Mar 2018 : Case report
Right Ventricular Heart Failure from a Cardiac Yolk Sac Tumor
Nicholas Isom, Aniket S. Rali, Ivan Damjanov, Kevin Hubbard, Joel Grigsby, Kamal Gupta
DOI: 10.12659/AJCR.907639
Am J Case Rep 2018; 19:229-233
3,412 935 0

02 Mar 2018 : Case report
Right Ventricular Heart Failure from a Cardiac Yolk Sac Tumor
Nicholas Isom, Aniket S. Rali, Ivan Damjanov, Kevin Hubbard, Joel Grigsby, Kamal Gupta
DOI: 10.12659/AJCR.907639
Am J Case Rep 2018; 19:229-233
3412 935 0

01 Mar 2018 : Case report
Intracardiac Abscess and Pacemaker Lead Infection Secondary to Hematogenous Dissemination of Methicillin-Sensitive Staphylococcus Aureus from a Prior Diabetic Foot Ulcer and Osteomyelitis
Kristopher S. Pfirman, Robel Haile
DOI: 10.12659/AJCR.906227
Am J Case Rep 2018; 19:224-228
3,222 811 0

01 Mar 2018 : Case report
Intracardiac Abscess and Pacemaker Lead Infection Secondary to Hematogenous Dissemination of Methicillin-Sensitive Staphylococcus Aureus from a Prior Diabetic Foot Ulcer and Osteomyelitis
Kristopher S. Pfirman, Robel Haile
DOI: 10.12659/AJCR.906227
Am J Case Rep 2018; 19:224-228
3222 811 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952819
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952834
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953320
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952980
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