Rare disease

23 May 2023 : Case report
A Case of an 82-Year-Old Man with a Spinal Extradural Malignant Ossifying Fibromyxoid Tumor
Qiqi Lu, Chi Long Ho
DOI: 10.12659/AJCR.939408
Am J Case Rep 2023; 24:e939408
3,441 2,814 0

23 May 2023 : Case report
A Case of an 82-Year-Old Man with a Spinal Extradural Malignant Ossifying Fibromyxoid Tumor
Qiqi Lu, Chi Long Ho
DOI: 10.12659/AJCR.939408
Am J Case Rep 2023; 24:e939408
3441 2814 0

22 May 2023 : Case report
Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
Marija Roddate, Gita Tauriņa, Vladimirs Krutovs, Dmitrijs Rots, Viktorija Kēniņa
DOI: 10.12659/AJCR.939217
Am J Case Rep 2023; 24:e939217
3,869 4,370 0

22 May 2023 : Case report
Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
Marija Roddate, Gita Tauriņa, Vladimirs Krutovs, Dmitrijs Rots, Viktorija Kēniņa
DOI: 10.12659/AJCR.939217
Am J Case Rep 2023; 24:e939217
3869 4370 0

17 May 2023 : Case report
Rapidly Progressing Sarcomatoid Hepatocellular Carcinoma after Needle Biopsy and Radiofrequency Ablation
Masamichi Kimura
, Ryo Matsuoka, Koji Nishikawa, Jun Imamura, Kiminori Kimura
DOI: 10.12659/AJCR.939126
Am J Case Rep 2023; 24:e939126
11,297 5,899 0

17 May 2023 : Case report
Rapidly Progressing Sarcomatoid Hepatocellular Carcinoma after Needle Biopsy and Radiofrequency Ablation
Masamichi Kimura
, Ryo Matsuoka, Koji Nishikawa, Jun Imamura, Kiminori Kimura
DOI: 10.12659/AJCR.939126
Am J Case Rep 2023; 24:e939126
11297 5899 0

16 May 2023 : Case report
Clinically Aggressive Uterine Epithelioid Leiomyosarcoma with Rhabdomyoblastic Differentiation and High Proliferation Rate: A Case Report
DOI: 10.12659/AJCR.939349
Am J Case Rep 2023; 24:e939349
4,086 5,089 0

16 May 2023 : Case report
Clinically Aggressive Uterine Epithelioid Leiomyosarcoma with Rhabdomyoblastic Differentiation and High Proliferation Rate: A Case Report
DOI: 10.12659/AJCR.939349
Am J Case Rep 2023; 24:e939349
4086 5089 0

06 May 2023 : Case report
A 60-Year-Old Man with a 34-Year History of Chronic Exertional Compartment Syndrome and 3 Previous Surgical Fasciotomies, Successfully Treated with Injection of Botulinum Toxin
Yohan Sumathipala
, Shivani Khakhkhar, Michael J. Suer
DOI: 10.12659/AJCR.939431
Am J Case Rep 2023; 24:e939431
2,735 4,223 0

06 May 2023 : Case report
A 60-Year-Old Man with a 34-Year History of Chronic Exertional Compartment Syndrome and 3 Previous Surgical Fasciotomies, Successfully Treated with Injection of Botulinum Toxin
Yohan Sumathipala
, Shivani Khakhkhar, Michael J. Suer
DOI: 10.12659/AJCR.939431
Am J Case Rep 2023; 24:e939431
2735 4223 0

15 May 2023 : Case report
IgG4-Related Disease of Temporal Bone Presenting as Unilateral Mastoiditis and Cerebral Thrombosis in a 22-Year-Old Man
Natália Carasek, Aline Motta Bitencourt, Juliana Guedes Amorim Mendonça, Fayez Bahmad Jr.
DOI: 10.12659/AJCR.939013
Am J Case Rep 2023; 24:e939013
3,075 2,755 0

15 May 2023 : Case report
IgG4-Related Disease of Temporal Bone Presenting as Unilateral Mastoiditis and Cerebral Thrombosis in a 22-Year-Old Man
Natália Carasek, Aline Motta Bitencourt, Juliana Guedes Amorim Mendonça, Fayez Bahmad Jr.
DOI: 10.12659/AJCR.939013
Am J Case Rep 2023; 24:e939013
3075 2755 0

14 May 2023 : Case report
Optic Neuritis Related to Chronic Sphenoid Sinusitis as an Uncommon Cause of Vision Loss: A Case Report and Literature Review
Barbara Nowacka, Wojciech Lubiński, Jakub Lubiński
DOI: 10.12659/AJCR.939267
Am J Case Rep 2023; 24:e939267
6,437 6,980 0

14 May 2023 : Case report
Optic Neuritis Related to Chronic Sphenoid Sinusitis as an Uncommon Cause of Vision Loss: A Case Report and Literature Review
Barbara Nowacka, Wojciech Lubiński, Jakub Lubiński
DOI: 10.12659/AJCR.939267
Am J Case Rep 2023; 24:e939267
6437 6980 0

12 May 2023 : Case report
Challenging Diagnosis of Intrapancreatic Accessory Spleen in the Tail of the Pancreas: A Case Report
Chaohui Xiao, Yan Xu, Fang Sun, Changtian Li, Rong Liu
DOI: 10.12659/AJCR.939324
Am J Case Rep 2023; 24:e939324
4,080 7,274 0

12 May 2023 : Case report
Challenging Diagnosis of Intrapancreatic Accessory Spleen in the Tail of the Pancreas: A Case Report
Chaohui Xiao, Yan Xu, Fang Sun, Changtian Li, Rong Liu
DOI: 10.12659/AJCR.939324
Am J Case Rep 2023; 24:e939324
4080 7274 0

10 May 2023 : Case report
A Young Patient with Undiagnosed Polycythemia-Paraganglioma Syndrome: A Case Report
Abdulaziz Mohammed Alaklabi
, Tarek Ziad Arabi, Mnahi N. Bin Saeedan, Ghazi Saud Alotaibi
DOI: 10.12659/AJCR.938676
Am J Case Rep 2023; 24:e938676
3,966 2,772 0

10 May 2023 : Case report
A Young Patient with Undiagnosed Polycythemia-Paraganglioma Syndrome: A Case Report
Abdulaziz Mohammed Alaklabi
, Tarek Ziad Arabi, Mnahi N. Bin Saeedan, Ghazi Saud Alotaibi
DOI: 10.12659/AJCR.938676
Am J Case Rep 2023; 24:e938676
3966 2772 0

09 May 2023 : Case report
Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Heerali Patel, Mohammed Elkhwad, Gregory C. Martin
DOI: 10.12659/AJCR.938651
Am J Case Rep 2023; 24:e938651
3,573 3,047 0

09 May 2023 : Case report
Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Heerali Patel, Mohammed Elkhwad, Gregory C. Martin
DOI: 10.12659/AJCR.938651
Am J Case Rep 2023; 24:e938651
3573 3047 0

07 May 2023 : Case report
Cryptogenic Hypervirulent Klebsiella pneumoniae Pyogenic Liver Abscess: A Case Report
Jennifer Leigh, Reza Naghdi
DOI: 10.12659/AJCR.939322
Am J Case Rep 2023; 24:e939322
4,150 2,740 0

07 May 2023 : Case report
Cryptogenic Hypervirulent Klebsiella pneumoniae Pyogenic Liver Abscess: A Case Report
Jennifer Leigh, Reza Naghdi
DOI: 10.12659/AJCR.939322
Am J Case Rep 2023; 24:e939322
4150 2740 0

05 May 2023 : Case report
Anterior Descending Coronary Artery Pseudoaneurysm in an 85-Year-Old Male Hemodialysis Patient: A Surgical Case Report
Masato Hayakawa
, Motomu Miyagi, Akira Hirata
, Maki Ogawa, Ryo Ikemura, Satoshi Yamashiro, Kiyoshi Iha
DOI: 10.12659/AJCR.939200
Am J Case Rep 2023; 24:e939200
3,088 2,778 0

05 May 2023 : Case report
Anterior Descending Coronary Artery Pseudoaneurysm in an 85-Year-Old Male Hemodialysis Patient: A Surgical Case Report
Masato Hayakawa
, Motomu Miyagi, Akira Hirata
, Maki Ogawa, Ryo Ikemura, Satoshi Yamashiro, Kiyoshi Iha
DOI: 10.12659/AJCR.939200
Am J Case Rep 2023; 24:e939200
3088 2778 0

02 May 2023 : Case report
A Huge Malignant Ovarian Tumor: A Case Report
Brahmana Askandar Tjokroprawiro
, Khoirunnisa Novitasari
, Renata Alya Ulhaq
DOI: 10.12659/AJCR.939387
Am J Case Rep 2023; 24:e939387
6,588 7,334 0

02 May 2023 : Case report
A Huge Malignant Ovarian Tumor: A Case Report
Brahmana Askandar Tjokroprawiro
, Khoirunnisa Novitasari
, Renata Alya Ulhaq
DOI: 10.12659/AJCR.939387
Am J Case Rep 2023; 24:e939387
6588 7334 0

01 May 2023 : Case report
Chest Tightness with Cycling Turned Out To Be Pneumomediastinum
Fahad Zafar, Ommar Afzal
DOI: 10.12659/AJCR.939170
Am J Case Rep 2023; 24:e939170
2,752 2,243 0

01 May 2023 : Case report
Chest Tightness with Cycling Turned Out To Be Pneumomediastinum
Fahad Zafar, Ommar Afzal
DOI: 10.12659/AJCR.939170
Am J Case Rep 2023; 24:e939170
2752 2243 0

30 Apr 2023 : Case report
Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
DOI: 10.12659/AJCR.938896
Am J Case Rep 2023; 24:e938896
6,403 2,642 0

30 Apr 2023 : Case report
Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
DOI: 10.12659/AJCR.938896
Am J Case Rep 2023; 24:e938896
6403 2642 0

26 Apr 2023 : Case report
Rare Case of Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome with Monoclonal Gammopathy of Undetermined Significance
Alpana Garg
, Alexander A. Garza, Sachin Goyal, Petar Lenert
DOI: 10.12659/AJCR.939650
Am J Case Rep 2023; 24:e939650
3,444 3,105 0

26 Apr 2023 : Case report
Rare Case of Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome with Monoclonal Gammopathy of Undetermined Significance
Alpana Garg
, Alexander A. Garza, Sachin Goyal, Petar Lenert
DOI: 10.12659/AJCR.939650
Am J Case Rep 2023; 24:e939650
3444 3105 0

24 Apr 2023 : Case report
An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome
Christoforos S. Kosmidis, Christina Michael, Chrysi Maria Mystakidou, Vasiliki Theodorou, Evanthia Papadopoulou, Konstantina Papadopoulou, Charilaos Koulouris, Nikolaos Varsamis, Georgios Koimtzis
, Panagiota Roullia, Marios Ntager, Christina Sevva
, Nikolaos Iason Katsios, Ioannis Charalampous, Katerina Zarampouka, Sofia Baka
DOI: 10.12659/AJCR.939117
Am J Case Rep 2023; 24:e939117
3,197 3,603 0

24 Apr 2023 : Case report
An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome
Christoforos S. Kosmidis, Christina Michael, Chrysi Maria Mystakidou, Vasiliki Theodorou, Evanthia Papadopoulou, Konstantina Papadopoulou, Charilaos Koulouris, Nikolaos Varsamis, Georgios Koimtzis
, Panagiota Roullia, Marios Ntager, Christina Sevva
, Nikolaos Iason Katsios, Ioannis Charalampous, Katerina Zarampouka, Sofia Baka
DOI: 10.12659/AJCR.939117
Am J Case Rep 2023; 24:e939117
3197 3603 0

24 Apr 2023 : Case report
Jessner’s Lymphocytic Infiltration of the Skin in a 73-Year-Old Woman: A Case Report
Carmen Elena Sánchez, María del Carmen Cabezas, Silvana Narváez, Henry Jaramillo, Camila Miño
DOI: 10.12659/AJCR.938969
Am J Case Rep 2023; 24:e938969
3,279 4,638 0

24 Apr 2023 : Case report
Jessner’s Lymphocytic Infiltration of the Skin in a 73-Year-Old Woman: A Case Report
Carmen Elena Sánchez, María del Carmen Cabezas, Silvana Narváez, Henry Jaramillo, Camila Miño
DOI: 10.12659/AJCR.938969
Am J Case Rep 2023; 24:e938969
3279 4638 0

23 Apr 2023 : Case report
Kidney Transplantation from a Deceased Donor with COVID-19 Ad26.COV2-S Vaccine-Induced Thrombotic Thrombocytopenia
Ivan Neretljak, Franjo Jurenec, Hrvoje Smojver, Zeljka Jurekovic
DOI: 10.12659/AJCR.938730
Am J Case Rep 2023; 24:e938730
3,307 2,512 0

23 Apr 2023 : Case report
Kidney Transplantation from a Deceased Donor with COVID-19 Ad26.COV2-S Vaccine-Induced Thrombotic Thrombocytopenia
Ivan Neretljak, Franjo Jurenec, Hrvoje Smojver, Zeljka Jurekovic
DOI: 10.12659/AJCR.938730
Am J Case Rep 2023; 24:e938730
3307 2512 0

22 Apr 2023 : Case report
Classical Presentation of Disseminated Blastomycosis in a 44-Year-Old Healthy Man 3 Months After Diagnosis of COVID-19
Diana Fan, Ali Ahmad
, Jared Frisby, Kavita Darji, Ashley Ojeaga, Ramona Behshad, M. Yadira Hurley, Mallory Abate, Paul Kunnath
DOI: 10.12659/AJCR.938659
Am J Case Rep 2023; 24:e938659
4,095 4,248 0

22 Apr 2023 : Case report
Classical Presentation of Disseminated Blastomycosis in a 44-Year-Old Healthy Man 3 Months After Diagnosis of COVID-19
Diana Fan, Ali Ahmad
, Jared Frisby, Kavita Darji, Ashley Ojeaga, Ramona Behshad, M. Yadira Hurley, Mallory Abate, Paul Kunnath
DOI: 10.12659/AJCR.938659
Am J Case Rep 2023; 24:e938659
4095 4248 0

20 Apr 2023 : Case report
Dermoid Cyst of the Parotid Gland: Case Report of a Rare Entity and Review of the Literature
Zahra Z. Alhusain, Karolina Witczak, Ahmed Shabaik
DOI: 10.12659/AJCR.939411
Am J Case Rep 2023; 24:e939411
4,610 2,830 0

20 Apr 2023 : Case report
Dermoid Cyst of the Parotid Gland: Case Report of a Rare Entity and Review of the Literature
Zahra Z. Alhusain, Karolina Witczak, Ahmed Shabaik
DOI: 10.12659/AJCR.939411
Am J Case Rep 2023; 24:e939411
4610 2830 0

27 Apr 2023 : Case report
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care
Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Mohamed-Syarif Mohamed-Yassin, Noorhida Baharudin, Suraya Abdul Razak, Siti Fatimah Badlishah-Sham, Hasidah Abdul-Hamid, Aznida Firzah Abdul Aziz, Alyaa Al-Khateeb, Yung An Chua, Noor Alicezah Mohd Kasim, Siti Hamimah Sheikh Abdul Kadir, Hapizah Nawawi, Nadeem Qureshi, Anis Safura Ramli
DOI: 10.12659/AJCR.939489
Am J Case Rep 2023; 24:e939489
3,983 4,894 0

27 Apr 2023 : Case report
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care
Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Mohamed-Syarif Mohamed-Yassin, Noorhida Baharudin, Suraya Abdul Razak, Siti Fatimah Badlishah-Sham, Hasidah Abdul-Hamid, Aznida Firzah Abdul Aziz, Alyaa Al-Khateeb, Yung An Chua, Noor Alicezah Mohd Kasim, Siti Hamimah Sheikh Abdul Kadir, Hapizah Nawawi, Nadeem Qureshi, Anis Safura Ramli
DOI: 10.12659/AJCR.939489
Am J Case Rep 2023; 24:e939489
3983 4894 0

17 Apr 2023 : Case report
Acute Deterioration of Patient with Sudden Onset of Shock Caused by Group G Streptococcus Infection after Revision Total Knee Arthroplasty: A Case Report
Kensuke Wada, Tomoyuki Matsumoto, Kemmei Ikuta, Masanori Tsubosaka, Naoki Nakano, Toshihisa Maeda
, Yuichi Kuroda, Shinya Hayashi, Ryosuke Kuroda
DOI: 10.12659/AJCR.938905
Am J Case Rep 2023; 24:e938905
4,264 2,482 0

17 Apr 2023 : Case report
Acute Deterioration of Patient with Sudden Onset of Shock Caused by Group G Streptococcus Infection after Revision Total Knee Arthroplasty: A Case Report
Kensuke Wada, Tomoyuki Matsumoto, Kemmei Ikuta, Masanori Tsubosaka, Naoki Nakano, Toshihisa Maeda
, Yuichi Kuroda, Shinya Hayashi, Ryosuke Kuroda
DOI: 10.12659/AJCR.938905
Am J Case Rep 2023; 24:e938905
4264 2482 0

15 Apr 2023 : Case report
Adjuvant Radiotherapy for Dissected Parotid Lymph Nodes Containing Merkel Cell Carcinoma from an Unknown Primary Skin Site: 2 Case Reports
Tzu-Yun Lai, Fang-Hui Liu, Peng-An Lai, Chi-Yuan Peter Yeh
DOI: 10.12659/AJCR.939183
Am J Case Rep 2023; 24:e939183
2,645 2,492 0

15 Apr 2023 : Case report
Adjuvant Radiotherapy for Dissected Parotid Lymph Nodes Containing Merkel Cell Carcinoma from an Unknown Primary Skin Site: 2 Case Reports
Tzu-Yun Lai, Fang-Hui Liu, Peng-An Lai, Chi-Yuan Peter Yeh
DOI: 10.12659/AJCR.939183
Am J Case Rep 2023; 24:e939183
2645 2492 0

13 Apr 2023 : Case report
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi
, Hidehito Kondo, Erina Nakahara
, Keiko Shimojima Yamamoto
, Hitoshi Kanno
, Yoshinori Katayama
DOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
2,919 3,334 0

13 Apr 2023 : Case report
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi
, Hidehito Kondo, Erina Nakahara
, Keiko Shimojima Yamamoto
, Hitoshi Kanno
, Yoshinori Katayama
DOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
2919 3334 0
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954163
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954178
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954110
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953469
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