Rare disease

08 Dec 2022 : Case report
Budesonide with Low-Dose 6-Mercaptopurine as a Possible New Treatment for IgG4-Related Sclerosing Cholangitis and Systemic IgG4-Related Disease: A Case Report
Benjamin Peter Michael Gummlich, Ali Seif Amir Hosseini, Harald Schwörer
DOI: 10.12659/AJCR.938272
Am J Case Rep 2022; 23:e938272
6,941 1,594 0

08 Dec 2022 : Case report
Budesonide with Low-Dose 6-Mercaptopurine as a Possible New Treatment for IgG4-Related Sclerosing Cholangitis and Systemic IgG4-Related Disease: A Case Report
Benjamin Peter Michael Gummlich, Ali Seif Amir Hosseini, Harald Schwörer
DOI: 10.12659/AJCR.938272
Am J Case Rep 2022; 23:e938272
6941 1594 0

27 Nov 2022 : Case report
Combined Intrathoracic and Abdominal Splenosis
Min Gyeong Choi, Wongi Woo, Joon Young Chang, Bong Jun Kim
, Youngwoong Kim, Duk Hwan Moon, Sungsoo Lee
DOI: 10.12659/AJCR.937902
Am J Case Rep 2022; 23:e937902
3,152 1,199 0

27 Nov 2022 : Case report
Combined Intrathoracic and Abdominal Splenosis
Min Gyeong Choi, Wongi Woo, Joon Young Chang, Bong Jun Kim
, Youngwoong Kim, Duk Hwan Moon, Sungsoo Lee
DOI: 10.12659/AJCR.937902
Am J Case Rep 2022; 23:e937902
3152 1199 0

24 Nov 2022 : Case report
A 60-Year-Old Woman with Symptoms of Combined Carpal Tunnel Syndrome and Cubital Tunnel Syndrome Due to an Elastofibroma Causing Compression of the Median and Ulnar Nerves
Rayan M. Sibira, Fadi Bouri, Adham Ammar, Mohammed Muneer
DOI: 10.12659/AJCR.937787
Am J Case Rep 2022; 23:e937787
4,357 1,419 0

24 Nov 2022 : Case report
A 60-Year-Old Woman with Symptoms of Combined Carpal Tunnel Syndrome and Cubital Tunnel Syndrome Due to an Elastofibroma Causing Compression of the Median and Ulnar Nerves
Rayan M. Sibira, Fadi Bouri, Adham Ammar, Mohammed Muneer
DOI: 10.12659/AJCR.937787
Am J Case Rep 2022; 23:e937787
4357 1419 0

23 Nov 2022 : Case report
Delayed Presentation of Nail Gun-Associated Traumatic Pneumothorax with a Retained Foreign Body: A Case Report
Lisa O'Kane, Zamaan Hooda, Ida Molavi
DOI: 10.12659/AJCR.937641
Am J Case Rep 2022; 23:e937641
2,643 1,255 0

23 Nov 2022 : Case report
Delayed Presentation of Nail Gun-Associated Traumatic Pneumothorax with a Retained Foreign Body: A Case Report
Lisa O'Kane, Zamaan Hooda, Ida Molavi
DOI: 10.12659/AJCR.937641
Am J Case Rep 2022; 23:e937641
2643 1255 0

22 Nov 2022 : Case report
Lisinopril-Induced Small Bowel Angioedema: An Unusual Cause of Severe Abdominal Pain
Brooks W. Johnson
, Ann M. Rydburg, Viet D. Do
DOI: 10.12659/AJCR.937895
Am J Case Rep 2022; 23:e937895
3,732 2,845 0

22 Nov 2022 : Case report
Lisinopril-Induced Small Bowel Angioedema: An Unusual Cause of Severe Abdominal Pain
Brooks W. Johnson
, Ann M. Rydburg, Viet D. Do
DOI: 10.12659/AJCR.937895
Am J Case Rep 2022; 23:e937895
3732 2845 0

22 Nov 2022 : Case report
Case Report of Multisystem Inflammatory Syndrome in Adults (MIS-A): A 31-Year-Old Man with Fever, Rash, and Cardiac Symptoms 6 Weeks Following SARS-CoV-2 Infection, Successfully Resuscitated Following Cardiac Arrest
Grant Gerstner
, Thomas A. Rafalski, Debra Pankiewicz
DOI: 10.12659/AJCR.938127
Am J Case Rep 2022; 23:e938127
4,659 1,534 0

22 Nov 2022 : Case report
Case Report of Multisystem Inflammatory Syndrome in Adults (MIS-A): A 31-Year-Old Man with Fever, Rash, and Cardiac Symptoms 6 Weeks Following SARS-CoV-2 Infection, Successfully Resuscitated Following Cardiac Arrest
Grant Gerstner
, Thomas A. Rafalski, Debra Pankiewicz
DOI: 10.12659/AJCR.938127
Am J Case Rep 2022; 23:e938127
4659 1534 0

21 Nov 2022 : Case report
Solitary Involvement of the Liver: A Rare Manifestation of Langerhans Cell Histiocytosis
Margarita Consing, Hee Eun Lee, Heidi Jess, Shifteh Vahidi
DOI: 10.12659/AJCR.937628
Am J Case Rep 2022; 23:e937628
3,854 1,113 0

21 Nov 2022 : Case report
Solitary Involvement of the Liver: A Rare Manifestation of Langerhans Cell Histiocytosis
Margarita Consing, Hee Eun Lee, Heidi Jess, Shifteh Vahidi
DOI: 10.12659/AJCR.937628
Am J Case Rep 2022; 23:e937628
3854 1113 0

19 Nov 2022 : Case report
Neck Pain and Headache After Pinealectomy: Improvement with Multimodal Chiropractic Therapies
Eric Chun-Pu Chu
, Robert J. Trager
DOI: 10.12659/AJCR.937906
Am J Case Rep 2022; 23:e937906
5,590 2,383 0

19 Nov 2022 : Case report
Neck Pain and Headache After Pinealectomy: Improvement with Multimodal Chiropractic Therapies
Eric Chun-Pu Chu
, Robert J. Trager
DOI: 10.12659/AJCR.937906
Am J Case Rep 2022; 23:e937906
5590 2383 0

18 Nov 2022 : Case report
A 6-Day-Old Male Infant with Severe Hyperbilirubinemia Diagnosed with Hereditary Spherocytosis at a Tertiary Hospital in East Java, Indonesia: A Diagnostic and Management Challenge in a Developing Country
Brigitta I.R.V. Corebima
, Charity Monica
, Eko Sulistijono
, Susanto Nugroho
, Sony Wicaksono
, Setya Mithra Hartiastuti
DOI: 10.12659/AJCR.937416
Am J Case Rep 2022; 23:e937416
4,894 3,697 0

18 Nov 2022 : Case report
A 6-Day-Old Male Infant with Severe Hyperbilirubinemia Diagnosed with Hereditary Spherocytosis at a Tertiary Hospital in East Java, Indonesia: A Diagnostic and Management Challenge in a Developing Country
Brigitta I.R.V. Corebima
, Charity Monica
, Eko Sulistijono
, Susanto Nugroho
, Sony Wicaksono
, Setya Mithra Hartiastuti
DOI: 10.12659/AJCR.937416
Am J Case Rep 2022; 23:e937416
4894 3697 0

16 Nov 2022 : Case report
Thoracic Schwannoma as an Unusual Cause of Sciatic Pain in the Chiropractic Office: A Case Report
Eric Chun-Pu Chu
, Robert J. Trager
DOI: 10.12659/AJCR.938448
Am J Case Rep 2022; 23:e938448
5,259 2,201 0

16 Nov 2022 : Case report
Thoracic Schwannoma as an Unusual Cause of Sciatic Pain in the Chiropractic Office: A Case Report
Eric Chun-Pu Chu
, Robert J. Trager
DOI: 10.12659/AJCR.938448
Am J Case Rep 2022; 23:e938448
5259 2201 0

15 Nov 2022 : Case report
Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment
Satsuki Yamamoto, Shun Yamashita
, Toshihiko Kakiuchi
, Kazuya Kurogi, Tomoyo M. Nishi, Masaki Tago
, Shu-ichi Yamashita
DOI: 10.12659/AJCR.937658
Am J Case Rep 2022; 23:e937658
3,771 3,694 0

15 Nov 2022 : Case report
Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment
Satsuki Yamamoto, Shun Yamashita
, Toshihiko Kakiuchi
, Kazuya Kurogi, Tomoyo M. Nishi, Masaki Tago
, Shu-ichi Yamashita
DOI: 10.12659/AJCR.937658
Am J Case Rep 2022; 23:e937658
3771 3694 0

13 Nov 2022 : Case report
Case of Mitral Valve Prolapse – Associated Sudden Cardiac Death in Pregnancy
Nguyen Ngoc Khoi Truong, Vu Hoang Vu, Binh Quang Truong
DOI: 10.12659/AJCR.938000
Am J Case Rep 2022; 23:e938000
6,250 3,820 0

13 Nov 2022 : Case report
Case of Mitral Valve Prolapse – Associated Sudden Cardiac Death in Pregnancy
Nguyen Ngoc Khoi Truong, Vu Hoang Vu, Binh Quang Truong
DOI: 10.12659/AJCR.938000
Am J Case Rep 2022; 23:e938000
6250 3820 0

20 Oct 2022 : Case report
Bilateral Salpingo-Oophorectomy for Intracardiac Leiomyomatosis: A Case Report
Jinxiao Liang, Lijuan Wang, Xiaoting Ling, Lingling Xie, Mingwei Xie, Chunxian Huang
DOI: 10.12659/AJCR.937266
Am J Case Rep 2022; 23:e937266
3,049 1,016 0

20 Oct 2022 : Case report
Bilateral Salpingo-Oophorectomy for Intracardiac Leiomyomatosis: A Case Report
Jinxiao Liang, Lijuan Wang, Xiaoting Ling, Lingling Xie, Mingwei Xie, Chunxian Huang
DOI: 10.12659/AJCR.937266
Am J Case Rep 2022; 23:e937266
3049 1016 0

15 Nov 2022 : Case report
Large Desmoid Tumor of the Pancreas: A Report of a Rare Case and Review of the Literature
Alexis Litchinko, Camille Brasset
, Matthieu Tihy
, Marie-Laure Amram, Frederic Ris
DOI: 10.12659/AJCR.937324
Am J Case Rep 2022; 23:e937324
7,000 3,090 0

15 Nov 2022 : Case report
Large Desmoid Tumor of the Pancreas: A Report of a Rare Case and Review of the Literature
Alexis Litchinko, Camille Brasset
, Matthieu Tihy
, Marie-Laure Amram, Frederic Ris
DOI: 10.12659/AJCR.937324
Am J Case Rep 2022; 23:e937324
7000 3090 0

11 Nov 2022 : Case report
A 70-Year-Old Woman Presenting with Confusion and Muscle Spasms Due to Serotonin Syndrome Associated with Paroxetine and Quetiapine Treatment
Elizabeth Mostel, Savan Patel, Brian G. Wiener
DOI: 10.12659/AJCR.938268
Am J Case Rep 2022; 23:e938268
4,249 7,245 0

11 Nov 2022 : Case report
A 70-Year-Old Woman Presenting with Confusion and Muscle Spasms Due to Serotonin Syndrome Associated with Paroxetine and Quetiapine Treatment
Elizabeth Mostel, Savan Patel, Brian G. Wiener
DOI: 10.12659/AJCR.938268
Am J Case Rep 2022; 23:e938268
4249 7245 0

07 Nov 2022 : Case report
Isolated First Branchial Cleft Anomalies of the External Auditory Canal
Alessandro Milani, Giuseppe Magliulo, Valeria Rossetti
, Roberta Polimeni
, Annalisa Pace
DOI: 10.12659/AJCR.936809
Am J Case Rep 2022; 23:e936809
2,806 1,937 0

07 Nov 2022 : Case report
Isolated First Branchial Cleft Anomalies of the External Auditory Canal
Alessandro Milani, Giuseppe Magliulo, Valeria Rossetti
, Roberta Polimeni
, Annalisa Pace
DOI: 10.12659/AJCR.936809
Am J Case Rep 2022; 23:e936809
2806 1937 0

06 Nov 2022 : Case report
Gynecomastia and Malignancy: A Case of Male Invasive Ductal Breast Carcinoma Treated with Neoadjuvant Chemotherapy
Erinie Mekheal, Brooke E. Kania, Poona Kumari, Vinod Kumar, Michael Maroules
DOI: 10.12659/AJCR.937370
Am J Case Rep 2022; 23:e937370
4,907 1,720 0

06 Nov 2022 : Case report
Gynecomastia and Malignancy: A Case of Male Invasive Ductal Breast Carcinoma Treated with Neoadjuvant Chemotherapy
Erinie Mekheal, Brooke E. Kania, Poona Kumari, Vinod Kumar, Michael Maroules
DOI: 10.12659/AJCR.937370
Am J Case Rep 2022; 23:e937370
4907 1720 0

05 Nov 2022 : Case report
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
Alja Kavčič, Matjaž Homan, Milanka Živanović, Maruša Debeljak, Tita Butenko, Ana Drole Torkar, Mojca Žerjav Tanšek, Sara Bertok, Tadej Battelino, Urh Groselj
DOI: 10.12659/AJCR.937220
Am J Case Rep 2022; 23:e937220
4,272 1,757 0

05 Nov 2022 : Case report
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
Alja Kavčič, Matjaž Homan, Milanka Živanović, Maruša Debeljak, Tita Butenko, Ana Drole Torkar, Mojca Žerjav Tanšek, Sara Bertok, Tadej Battelino, Urh Groselj
DOI: 10.12659/AJCR.937220
Am J Case Rep 2022; 23:e937220
4272 1757 0

03 Nov 2022 : Case report
Recurrent Gastrointestinal Bleed Due to Small Bowel Vascular Malformation in a Patient with Turner Syndrome Diagnosed with Surgically Assisted Push Enteroscopy
Alvaro G. Flores Lopez, David J. Freestone, Megan K. Fuller, Nicole Wozny, Andrew S. Huang-Pacheco
DOI: 10.12659/AJCR.937259
Am J Case Rep 2022; 23:e937259
3,826 2,077 0

03 Nov 2022 : Case report
Recurrent Gastrointestinal Bleed Due to Small Bowel Vascular Malformation in a Patient with Turner Syndrome Diagnosed with Surgically Assisted Push Enteroscopy
Alvaro G. Flores Lopez, David J. Freestone, Megan K. Fuller, Nicole Wozny, Andrew S. Huang-Pacheco
DOI: 10.12659/AJCR.937259
Am J Case Rep 2022; 23:e937259
3826 2077 0

03 Nov 2022 : Case report
Injury to the Posterior Horn of the Lateral Meniscus from a Misplaced Tibial Tunnel for Anterior Cruciate Ligament Reconstruction: A Case Report
Amar S. Vadhera
, Jonathan S. Lee, Harsh Singh, Safa Gursoy, Kyle N. Kunze
, Nikhil N. Verma, Jorge Chahla
DOI: 10.12659/AJCR.937581
Am J Case Rep 2022; 23:e937581
6,751 2,155 0

03 Nov 2022 : Case report
Injury to the Posterior Horn of the Lateral Meniscus from a Misplaced Tibial Tunnel for Anterior Cruciate Ligament Reconstruction: A Case Report
Amar S. Vadhera
, Jonathan S. Lee, Harsh Singh, Safa Gursoy, Kyle N. Kunze
, Nikhil N. Verma, Jorge Chahla
DOI: 10.12659/AJCR.937581
Am J Case Rep 2022; 23:e937581
6751 2155 0

04 Nov 2022 : Case report
Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
Vachiravit Sriprakoon, Chalisa Ittagornpunth, Nakorn Puapaiboon, Aekasit Bunyahathaipat, Punnapat Piriyanon, Sookkasem Khositseth, Kitiwan Rojnueangnit
DOI: 10.12659/AJCR.937695
Am J Case Rep 2022; 23:e937695
4,812 2,585 0

04 Nov 2022 : Case report
Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
Vachiravit Sriprakoon, Chalisa Ittagornpunth, Nakorn Puapaiboon, Aekasit Bunyahathaipat, Punnapat Piriyanon, Sookkasem Khositseth, Kitiwan Rojnueangnit
DOI: 10.12659/AJCR.937695
Am J Case Rep 2022; 23:e937695
4812 2585 0

31 Oct 2022 : Case report
Neck pain and Headache Complicated by Persistent Syringomyelia After Foramen Magnum Decompression for Chiari I Malformation: Improvement with Multimodal Chiropractic Therapies
Eric Chun-Pu Chu
, Robert J. Trager
, Gabriel Siu Nam Ng, John Sing Fai Shum
DOI: 10.12659/AJCR.937826
Am J Case Rep 2022; 23:e937826
10,545 4,841 0

31 Oct 2022 : Case report
Neck pain and Headache Complicated by Persistent Syringomyelia After Foramen Magnum Decompression for Chiari I Malformation: Improvement with Multimodal Chiropractic Therapies
Eric Chun-Pu Chu
, Robert J. Trager
, Gabriel Siu Nam Ng, John Sing Fai Shum
DOI: 10.12659/AJCR.937826
Am J Case Rep 2022; 23:e937826
10545 4841 0

30 Oct 2022 : Case report
A 56-Year-Old Woman with Acute Cholecystitis and a Moynihan’s Hump, or Caterpillar Configuration, of the Right Hepatic Artery Identified During Laparoscopic Cholecystectomy
Isabelle Uhe, Abdul Ghyas Ghyasi, Mickael Chevallay, Floryn Cherbanyk
DOI: 10.12659/AJCR.936835
Am J Case Rep 2022; 23:e936835
4,035 3,099 0

30 Oct 2022 : Case report
A 56-Year-Old Woman with Acute Cholecystitis and a Moynihan’s Hump, or Caterpillar Configuration, of the Right Hepatic Artery Identified During Laparoscopic Cholecystectomy
Isabelle Uhe, Abdul Ghyas Ghyasi, Mickael Chevallay, Floryn Cherbanyk
DOI: 10.12659/AJCR.936835
Am J Case Rep 2022; 23:e936835
4035 3099 0

29 Oct 2022 : Case report
Pneumatosis Cystoides Coli Presenting as Acute Abdomen in a Patient with Complicated Behcet’s Disease: A Case Report
Rachel Gefen
, Brigitte Helou, Noam Shussman, Anna Elia
, Liat Appelbaum, Alon Pikarsky, Jonathan Abraham Demma
DOI: 10.12659/AJCR.937677
Am J Case Rep 2022; 23:e937677
4,084 1,323 0

29 Oct 2022 : Case report
Pneumatosis Cystoides Coli Presenting as Acute Abdomen in a Patient with Complicated Behcet’s Disease: A Case Report
Rachel Gefen
, Brigitte Helou, Noam Shussman, Anna Elia
, Liat Appelbaum, Alon Pikarsky, Jonathan Abraham Demma
DOI: 10.12659/AJCR.937677
Am J Case Rep 2022; 23:e937677
4084 1323 0

28 Oct 2022 : Case report
Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy
Joanna Korzycka, Ewa Pawłowicz-Szlarska
, Anna Masajtis-Zagajewska
, Michał Nowicki
DOI: 10.12659/AJCR.936565
Am J Case Rep 2022; 23:e936565
3,213 1,333 0

28 Oct 2022 : Case report
Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy
Joanna Korzycka, Ewa Pawłowicz-Szlarska
, Anna Masajtis-Zagajewska
, Michał Nowicki
DOI: 10.12659/AJCR.936565
Am J Case Rep 2022; 23:e936565
3213 1333 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.949976
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950290
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950607
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950985
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