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  1. Spinal muscular atrophy is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy and even paralysis. Spinal muscular atrophy usually associated with a...

    Authors: Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Irwan Taufiqur Rachman and Nur Imma Fatimah Harahap

    Citation: Journal of Medical Case Reports 2022 16:14

    Content type: Case report

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  2. Fenestration of the cervical segment of the internal carotid artery is a very rare finding, and its origin is still not fully understood. Explanations of its genesis range from dissections leading to the fenes...

    Authors: Nasel Christian, Poetsch Angelina, Brunner Cornelia and Moser Ewald

    Citation: Journal of Medical Case Reports 2022 16:13

    Content type: Case report

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  3. Symptomatic pituitary metastasis is rare; furthermore, it can result in diabetes insipidus and panhypopituitarism. Since diabetes insipidus is masked by concurrent panhypopituitarism, it can impede the diagnos...

    Authors: Hiroaki Hashimoto, Tomoyuki Maruo, Masami Nakamura, Yukitaka Ushio, Masayuki Hirata and Haruhiko Kishima

    Citation: Journal of Medical Case Reports 2022 16:12

    Content type: Case report

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  4. Kawasaki disease is an idiopathic medium-sized vasculitis that occurs primarily in infants and children younger than 5 years of age. Atypical Kawasaki disease applies to patients who do not fulfill the complet...

    Authors: Walaa Alshammasi, Abeer Bargawi, Aljuhara Abdulrahman, Mariam Alhaji, Fakherah AL Qahtani and Ali Aldajani

    Citation: Journal of Medical Case Reports 2022 16:11

    Content type: Case report

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  5. Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the ki...

    Authors: Mohammad Barzegar, Fatemeh Valaee and Shadi Ghoreishizadeh

    Citation: Journal of Medical Case Reports 2022 16:23

    Content type: Case report

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  6. Tumor-induced osteomalacia is a rare, acquired paraneoplastic syndrome, including hypophosphatemia, high serum alkaline phosphatase, reduced active vitamin D, suboptimal bone mineral density, bone pain, fragil...

    Authors: Khalid Aligail, Joel A. Dave and Ian Louis Ross

    Citation: Journal of Medical Case Reports 2022 16:22

    Content type: Case report

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  7. Cervical thymoma is a rare thymic epithelial neoplasm. Evidence supports an increased risk of second primary malignancies in patients with thymoma. We report a rare case of a patient with synchronous cervical ...

    Authors: Chutima Kunacheewa, Sattawut Wongwiangjunt and Sanya Sukpanichnant

    Citation: Journal of Medical Case Reports 2022 16:10

    Content type: Case report

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  8. Acquired long QT syndrome is an important and preventable cause of cardiac arrest. Certain medications and electrolyte disturbance are common contributors, and often coexist. In this case, we report five contr...

    Authors: K. D. Tiver, D. Dharmaprani, J. X. Quah, A. Lahiri, K. E. Waddell-Smith and A. N. Ganesan

    Citation: Journal of Medical Case Reports 2022 16:9

    Content type: Case report

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  9. The globus pallidus internus is the main target for the treatment of dystonia by deep brain stimulation. Unfortunately, for some genetic etiologies, the therapeutic outcome of dystonia is less predictable. In ...

    Authors: Andrea Giorni, Terry Coyne, Peter A. Silburn, George D. Mellick, Pankaj Sah and François Windels

    Citation: Journal of Medical Case Reports 2022 16:15

    Content type: Case report

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  10. Osteoma is a benign tumor of the bones, which can be classified as central or peripheral. The occurrence in the jawbones is uncommon, but when it occurs, there is a greater prevalence of the mandible. The etio...

    Authors: Isabela Wolf-Grotto, Lucas M. Nogueira, Basilio Milani and Erica C. Marchiori

    Citation: Journal of Medical Case Reports 2022 16:8

    Content type: Case report

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  11. Dislocation of the knee is a serious and potentially limb-threatening injury. There are three types of dislocation around the knee joint: patellofemoral, tibiofemoral, and tibiofibular. Tibiofemoral dislocatio...

    Authors: Ernest Chew, Aadhar Sharma and Chinmay Gupte

    Citation: Journal of Medical Case Reports 2022 16:7

    Content type: Case report

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  12. Patients with chikungunya virus infection commonly present with fever, skin rash, and severe joint pain. The vesiculobullous rash is rare in adults but common in infants. In addition, septic shock and acute re...

    Authors: Saovanee Benjamanukul, Jira Chansaenroj, Chintana Chirathaworn and Yong Poovorawan

    Citation: Journal of Medical Case Reports 2022 16:5

    Content type: Case report

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  13. Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodig...

    Authors: Matheus V. M. B Wilke, Bibiana M. Oliveira, Alessandra Pereira, Maria Juliana R. Doriqui, Fernando Kok and Carolina F. M. Souza

    Citation: Journal of Medical Case Reports 2022 16:4

    Content type: Case report

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  14. Sodium–glucose cotransporter 2 inhibitors are among the new-generation oral antihyperglycemic agents that have been used in the treatment of type 2 diabetes mellitus. With the recent coronavirus disease 2019 p...

    Authors: Edwin Sze Sian Yii, Athirah Wan Azli and Premela Naidu Sitaram

    Citation: Journal of Medical Case Reports 2022 16:17

    Content type: Case report

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  15. Fusobacterium nucleatum is an anaerobic bacterium mainly responsible for acute or chronic infection of the ear, nose, and throat, potentially bacteremic with a risk of extraoral metastatic infection. Bacteremia o...

    Authors: Johnny Michel, Luc-Marie Joly and Virginie Eve Lvovschi

    Citation: Journal of Medical Case Reports 2022 16:16

    Content type: Case report

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  16. Dermatomyositis is a rare autoimmune disease characterized by noninfectious inflammatory damage of skin and predominant muscles in the belts. It is believed to be associated with about 1 in 1000 cases of nasop...

    Authors: Souleymane Panandtigri, Nioka Pierre Xavier Siaˡ, Meryeme Charkaouiˡ, Nadia Benchakrounˡ, Zineb Bouchbikaˡ, Hassan Jouhadiˡ, Nezha Tawfiqˡ, Souha Sahraouiˡ and Abdellatif Beniderˡ

    Citation: Journal of Medical Case Reports 2022 16:3

    Content type: Case report

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  17. The postoperative complications of mandibular fracture include malocclusion, infection, nonunion, osteomyelitis, and sensorial mental nerve dysfunction. However, there are no reports regarding postoperative dy...

    Authors: Shinsuke Yamamoto, Masanori Nashi, Keigo Maeda, Naoki Taniike and Toshihiko Takenobu

    Citation: Journal of Medical Case Reports 2022 16:6

    Content type: Case report

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  18. In patients receiving single lung transplantation for idiopathic pulmonary fibrosis, worsening of fibrosis of the native lung is usually progressive over time, with no significant effects on gas exchange.

    Authors: Tiphaine Goletto, Sixtine Decaux, Vincent Bunel, Gaëlle Weisenburger, Jonathan Messika, Samer Najem, Chahine Medraoui, Cendrine Godet, Marie Pierre Debray, Brice Lortat-Jacob, Pierre Mordant, Yves Castier, Lila Bouadma, Raphael Borie and Hervé Mal

    Citation: Journal of Medical Case Reports 2022 16:2

    Content type: Case report

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  19. Coats’ disease was originally defined as a unilateral idiopathic exudative retinopathy in young males, characterized by abnormal retinal vascular telangiectasia with intraretinal and subretinal lipid exudation...

    Authors: Simanta Khadka, Raghunandan Byanju and Sabina Parajuli

    Citation: Journal of Medical Case Reports 2021 15:631

    Content type: Case report

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  20. 49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000–100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case see...

    Authors: N. P. G. C. R. Naotunna, C. Liyanage and N. Atapattu

    Citation: Journal of Medical Case Reports 2021 15:630

    Content type: Case report

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  21. Dysthyroid optic neuropathy is the most commonly suspected diagnosis of optic neuropathy in Graves’ patients; however, other causes need to be ruled out. We present a unique case of optic neuropathy secondary ...

    Authors: Miki Sato-Akushichi, Reiko Kinouchi, Naoko Kawai and Kenichiro Nomura

    Citation: Journal of Medical Case Reports 2021 15:618

    Content type: Case report

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  22. Ganglioneuromas are a benign tumor originating from neural crest cells. As one of the neuroblastic tumors, ganglioneuromas are most common in children, with a mean age at presentation of 7 years. Ganglioneurom...

    Authors: Elliott Lebby, Daniel Kwan, Thanh-Lan Bui, Ryan O’Connell, Mani Seetharaman and Roozbeh Houshyar

    Citation: Journal of Medical Case Reports 2021 15:634

    Content type: Case report

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  23. Diagnosis of breast cancer during gestation is a rare occurrence. In addition, the diagnosis of breast cancer in a patient with Crohn’s disease is not common. We present a rare case of gestational breast cance...

    Authors: Mohammed Al-Arsan Al-Yaseen, Salah Aldin Haydar, Mousa Alali and Maher Saifo

    Citation: Journal of Medical Case Reports 2021 15:633

    Content type: Case report

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  24. Juvenile dermatomyositis is an inflammatory disease of muscles, skin, and blood vessels of unknown cause affecting all age and ethnic groups, with a reported incidence of 1.9–4.1 per million. It manifests with...

    Authors: Fatima Mussa, Neema Nalitolela and Francis Fredrick

    Citation: Journal of Medical Case Reports 2021 15:632

    Content type: Case report

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  25. Drug reaction with eosinophilia and systemic symptoms syndrome is a rare but severe and potentially life-threatening hypersensitivity reaction, with significant morbidity and mortality. The clinical presentati...

    Authors: Hawa Ozien Abu, Sajjadh M. J. Ali, Anil Phuyal, Akil Sherif, Gregory T. Williams and Iryna Chastain

    Citation: Journal of Medical Case Reports 2021 15:613

    Content type: Case report

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  26. Patients with large cutaneous squamous cell carcinoma of the scalp are a treatment challenge. We report a case of dramatic radiotherapy response of a patient with a giant cutaneous squamous cell carcinoma of t...

    Authors: Isabella Gruber and Oliver Koelbl

    Citation: Journal of Medical Case Reports 2021 15:610

    Content type: Case report

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  27. Disruption of the Neurobeachin gene is a rare genetic mutation that has been implicated in the development of autism and enhanced long-term potentiation of the hippocampal CA1 region, causing a heightened conditi...

    Authors: Christina Y. Cantwell, Jamie Fortman and Alexis Seegan

    Citation: Journal of Medical Case Reports 2021 15:612

    Content type: Case report

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  28. Facial onset sensory and motor neuropathy is a very rare sensorimotor disorder characterized by facial onset and gradual progression, with approximately 100 cases reported worldwide in 2020. We report on our e...

    Authors: Hiroki Hanawa, Ryo Nagaoka, Yuya Fukuda, Kazuya Akutsu, Teppei Yamada and Shinsuke Hamaguchi

    Citation: Journal of Medical Case Reports 2021 15:609

    Content type: Case report

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  29. Bisphosphonates are frequently used for osteoporosis. Medication-related osteonecrosis of the jaw, a complication of bone-modifying agents, including bisphosphonates or angiogenic inhibitors, can be challengin...

    Authors: Kunio Yoshizawa, Akinori Moroi, Ran Iguchi, Akihiro Takayama, Junko Goto, Yutaka Takayama and Koichiro Ueki

    Citation: Journal of Medical Case Reports 2021 15:608

    Content type: Case report

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  30. Femoral neck stress fractures are rare and often recognized as overuse injuries that occur in young athletes or military personnel. A case following osteonecrosis of the femoral head is quite rare; even more u...

    Authors: Tomofumi Nishino, Hisashi Sugaya, Naoya Kikuchi, Yu Watanabe, Hajime Mishima and Masashi Yamazaki

    Citation: Journal of Medical Case Reports 2021 15:607

    Content type: Case report

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  31. An adrenocortical tumor is a rare tumor in pediatrics, which can be functional or nonfunctional. Functional tumors present with virilization, feminization, or hypercortisolism. Feminizing adrenal tumors, thoug...

    Authors: Eman Abdalla Ali Elnaw, Areej Ahmed Bashier Ibrahim and Mohamed Ahmed Abdullah

    Citation: Journal of Medical Case Reports 2021 15:605

    Content type: Case report

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  32. Recent advances in cancer immunotherapy have been remarkable, with many reports on the clinical effects of immune checkpoint inhibitors. Nivolumab has been covered by the national health insurance in Japan as ...

    Authors: Tomoya Takami, Koji Yasuda, Nozomi Uozumi, Yutaka Musiake, Hiroshi Shintani, Naoki Kataoka, Tomoyuki Yamaguchi and Shinichiro Makimoto

    Citation: Journal of Medical Case Reports 2021 15:604

    Content type: Case report

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  33. Acute kidney injury is a major challenge for today’s healthcare systems around the globe. Renal replacement therapy has been shown to be beneficial in acute kidney injury, but treatment highly depends on the c...

    Authors: B. Marahrens, K. Amann, K. Asmus, S. Erfurt and D. Patschan

    Citation: Journal of Medical Case Reports 2021 15:629

    Content type: Case report

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  34. Progressive multifocal leukoencephalopathy is a rare central nervous system disease, resulting from reactivation of latent John Cunningham virus. Monoclonal antibodies have recently become a relevant risk fact...

    Authors: Nicoletta D’Ettore, Valentina Scheggi, Brunetto Alterini and Niccolò Marchionni

    Citation: Journal of Medical Case Reports 2021 15:603

    Content type: Case report

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  35. Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enab...

    Authors: Benoît Mbiya Mukinayi, John Mpoyi Kalenda, Didier Kalombo Kalenda, Ghislain Disashi Tumba and Béatrice Gulbis

    Citation: Journal of Medical Case Reports 2021 15:628

    Content type: Case report

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  36. Treatment of hepatitis C infection has evolved dramatically since 2011. Previous conventional therapy with interferon and ribavirin used to have a low sustained virological response rate of less than 40%. In t...

    Authors: Abdulrahman Qatomah, Majidah Bukhari, Edward Cupler, Hosam Alardati and Mohammad Mawardi

    Citation: Journal of Medical Case Reports 2021 15:627

    Content type: Case report

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  37. Takotsubo syndrome is a sudden and an acute form of transient cardiac dysfunction, triggered by mental and physical stress. The treatment for Takotsubo syndrome is not well understood and is incompletely estab...

    Authors: Shunsuke Todani and Mao Takahashi

    Citation: Journal of Medical Case Reports 2021 15:626

    Content type: Case report

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  38. We report a case of platypnea–orthodeoxia syndrome observed in a complex clinical situation associating a bilateral pleural effusion, lobar pulmonary embolism, and a partial anomalous pulmonary venous return.

    Authors: João Pinto Pereira, Benoit Ghaye, Pierre-François Laterre and Philippe Hantson

    Citation: Journal of Medical Case Reports 2021 15:600

    Content type: Case report

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  39. Peripheral ossifying fibroma is an inflammatory or reactive hyperplasia of the gingiva that is usually small. It is formed by hard tissue in fibrous tissue, and the name “neoplastic lesion” has tended to be us...

    Authors: Takeshi Karube, Kanako Munakata, Yuka Yamada, Yuta Yasui, Shosuke Yajima, Nobuyuki Horie, Hiromasa Kawana, Shuji Mikami, Taneaki Nakagawa and Seiji Asoda

    Citation: Journal of Medical Case Reports 2021 15:599

    Content type: Case report

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  40. Human immunodeficiency virus-infected patients are 100 times more likely to develop aseptic osteonecrosis compared with the general population. While 90% of cases concern the femoral head, the involvement of h...

    Authors: Kalilou Diallo, Bruce Shinga Wembulua, Mohamadou Aidara, Armel Alleyo and Noel Magloire Manga

    Citation: Journal of Medical Case Reports 2021 15:624

    Content type: Case report

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  41. Mast cells are closely associated with epithelium, serving as sentinels responsible for the recognition of tissue injury and coordination of the initial inflammatory response. Upon detection of the injured cel...

    Authors: Isabelle Brock, Nicole Eng and Anne Maitland

    Citation: Journal of Medical Case Reports 2021 15:620

    Content type: Case report

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  42. Patients with celiac disease present with not only gastrointestinal symptoms but also extraintestinal manifestations such as anemia, osteopathy, dermatitis herpetiformis, and celiac neuropathy. Despite a fairl...

    Authors: S. N. Bardakov, Minh Duc Tran, S. V. Lapin, A. N. Moshnikova, E. U. Kalinina, E. G. Bogdanova, A. V. Bolekhan and B. L. Gavriluk

    Citation: Journal of Medical Case Reports 2021 15:615

    Content type: Case report

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  43. Nutcracker syndrome is a condition in which the left renal vein is pinched between the abdominal aorta and the superior mesenteric artery, resulting in an increase in renal vein pressure and certain symptoms. ...

    Authors: Akihito Yamamoto, Seiryu Kamoi and Shunji Suzuki

    Citation: Journal of Medical Case Reports 2021 15:602

    Content type: Case report

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  44. Mesenchymal stem cells are currently a research focus because of the possibility of cartilage regeneration through several mechanisms, including mesenchymal stem cell sheets. However, there are no published re...

    Authors: Ayano Kuwasawa and Kotaro Nihei

    Citation: Journal of Medical Case Reports 2021 15:598

    Content type: Case report

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  45. The ankle-brachial index measurement is used for screening and diagnosis of lower-extremity peripheral artery disease and cardiovascular risk assessment. However, the value is occasionally unreliable since the...

    Authors: Tatsuya Maruhashi, Shogo Matsui, Farina Mohamad Yusoff, Shinji Kishimoto, Masato Kajikawa and Yukihito Higashi

    Citation: Journal of Medical Case Reports 2021 15:622

    Content type: Case report

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  46. Pneumatosis cystoides intestinalis is a rare and usually benign condition in which multiple thin-walled cysts develop in the submucosa or subserosa of the gastrointestinal tract. While usually asymptomatic, se...

    Authors: Elliott Lebby, Medhat Hanna, Thanh-Lan Bui, Adam Rudd, Whayoung Lee and Roozbeh Houshyar

    Citation: Journal of Medical Case Reports 2021 15:597

    Content type: Case report

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