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Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is requir...
Basal cell nevus syndrome, also known as Gorlin or Gorlin–Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, incl...
Autoimmune hepatitis is a chronic liver disease marked by immune-mediated inflammation, necrosis, and the potential to progress to cirrhosis if not treated. This case report presents a rare and atypical presen...
Sarcoidosis is a multisystem inflammatory disease of unknown etiology characterized by the formation of noncaseating epithelioid granulomas. Clinically significant renal involvement is rare in sarcoidosis. It ...
Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. “Porto-sinusoidal vascular disease” has be...
Nephrogenic diabetes insipidus is a rare, often underrecognized complication of long-term lithium therapy. Lithium-induced nephrogenic diabetes insipidus results from chronic renal exposure, leading to signifi...
Low-grade fibromyxoid sarcoma is a rare soft tissue tumor characterized by a benign histological appearance but with a high potential for recurrence and metastasis. First described by Evans in 1987, recurrence...
Nocardia infections are rare infections in immunocompetent patients and occur mostly in immunocompromised individuals. Usually, nocardia affects skin, brain, and lungs, but in disseminated forms, which occurred m...
Heterotaxia is characterized by an abnormal positioning of the thoracic and/or abdominal organs, resulting in various physiological and hemodynamic implications. Congenital heart disease involves structural ir...
Mantle cell lymphoma is a diverse B-cell lymphoma with varying clinical behaviors. Treating relapsed or refractory mantle cell lymphoma is challenging, with Bruton’s tyrosine kinase inhibitors proving effectiv...
Severe acute respiratory syndrome coronavirus infection is responsible for multisystemic disease and has high transmissibility. It culminated in a pandemic, challenging scientific knowledge and care capacity. ...
Malignant mesotheliomas are aggressive forms of tumors arising from mesothelial cells. The most common type is malignant pleural mesothelioma, which progresses rapidly and leads to pleural effusion. It typical...
Osteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. The majority of osteogenesis imperfecta cases are inherite...
Central retinal vein occlusion and cilioretinal artery occlusion are rare but serious ocular conditions that can lead to significant visual impairment. While few cases of central retinal vein occlusion and cil...
Intrathecal baclofen therapy can substantially improve symptoms in patients with severe spasticity owing to traumatic spinal cord injury, multiple sclerosis, cerebral paresis, or tethered cord syndrome. Proble...
Meniere’s disease arises when an abnormal fluid accumulation results in heightened pressure within the inner ear or labyrinth. Its symptoms encompass vertigo, tinnitus, hearing loss, and a sensation of fullnes...
The coexistence of pheochromocytoma and hyperaldosteronism is a rare and clinically significant finding with diagnostic challenges that need to be considered in the workup of patients with hypertension.
Headaches are more prevalent in patients with multiple sclerosis compared with the general population. However, headaches are still considered a rare symptom of multiple sclerosis, especially when they appear ...
Interventional therapy of trigeminal neuropathic pain has been well documented; however, intraoperative monitoring and management of pain hypersensitivity remains barely reported, which may pose a great challe...
Undifferentiated pleomorphic sarcoma, previously called malignant fibrous histiocytoma, is a type of malignant mesenchymal tumor (sarcoma) of soft tissue and sometimes bone. It is uncommon in the oral cavity a...
Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein,...
Amyand’s hernia, an uncommon condition characterized by the presence of the appendix within an inguinal hernial sac (< 1% incidence), poses diagnostic and therapeutic challenges. Often it is an intraoperative ...
The diagnosis and management of female genital conditions (Rodriguez et al. in Clin Anat 34(1):103–107, 2020. https://doi.org/10.1002/ca.23654) are often cha...
Superficial acral fibromyxoma is a noncancerous, benign tumor of soft tissue with an unidentified origin. Occurrences of abnormalities on the palm are less frequently documented.
Horseshoe kidney is the most common renal fusion anomaly, occurring in approximately 1 in 500 individuals worldwide. It is characterized by abnormalities in kidney position, rotation, and vascular supply. Whil...
While the potentially hazardous effects of intraocular perfluorocarbon gases during air travel have been recognized, the equivalent risk of intraocular air tamponade is less known and has, to the best of our k...
Antibiomania is the manifestation of manic symptoms secondary to taking an antibiotic, which is a rare side effect. In these cases, the antibiotics most often incriminated are macrolides and quinolones, but to...
Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kin...
Crohn’s disease and irritable bowel syndrome may both cause abdominal pain and diarrhea. Irritable bowel syndrome not only is an important differential diagnosis for Crohn’s disease but also occurs in one out ...
Purulent bacterial pericarditis is a potentially fatal disease with mortality rates reaching 100% if left untreated.
The Compress is designed to achieve bone formation and stability by applying pressure at the bone–implant interface, minimizing the likelihood of aseptic loosening, which is a complication of stem implants. He...
Cardiac tamponade is a life-threatening condition resulting from fluid accumulation in the pericardial sac, leading to decreased cardiac output and shock. Various etiologies can cause cardiac tamponade, includ...
Intra-aural tick infestations, though uncommon, pose a serious clinical challenge owing to the risk of acute labyrinthitis—an inflammatory condition of the inner ear. This inflammation can lead to severe compl...
McKittrick–Wheelock syndrome is an uncommon and severe disorder caused by large hypersecretory tumors located in the distal colorectal area. Excessive secretion from adenomas is an unusual clinical manifestati...
Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescen...
Adenoid cystic carcinoma of the breast is a rare subtype, constituting less than 3.5% of primary breast carcinomas. Despite being categorized as a type of triple-negative breast cancer, it generally has a favo...
Although rare, melanoma confined to the dermis or subcutaneous tissue without evidence of a primary cutaneous site should provoke consideration of melanoma of unknown primary. This diagnosis carries a favorabl...
Severe acute respiratory syndrome coronavirus 2 was found first in Wuhan and declared a pandemic by the World Health Organization. Coinfection with other respiratory viruses may occur, complicating the diagnos...
Idiopathic CD4+ T lymphocytopenia is a rare immune dysfunction disease that is usually found after opportunistic infections. Mycobacterium abscessus is a rapidly growing mycobacterium that can cause pulmonary inf...
Ectopic pregnancy, occurring outside the uterine cavity, poses a significant health risk, with Fallopian tube involvement being predominant. Recurrent ectopic pregnancy, particularly in the ipsilateral remnant...
Maxillary canine impaction can result in malocclusion, temporomandibular joint complications, and esthetic concerns, thus influencing craniofacial development. Although cases of impacted canines are not uncomm...
Aluminum phosphide is a cheap and commonly used rodenticide that is also an effective solid fumigant and frequently used for grain preservation. The pill contains around 44% inert elements (ammonium carbonate)...
Leprosy (Hansen’s disease) is an infectious disease most common in resource-limited countries caused by the acid-fast bacilli Mycobacterium leprae and Mycobacterium lepromatosis that frequently affects the skin a...
Evans syndrome is a rare disorder characterized by the simultaneous or sequential combination of autoimmune hemolytic anemia and immunological thrombocytopenia, together with a positive direct antiglobulin tes...
Open and crushed forearm injury is a complex and rare injury affecting the upper extremity. It results in damage to various structures, including bones, soft tissues, and neurovascular bundles, ultimately lead...
Tropheryma whipplei pneumonia is an infrequent medical condition. The clinical symptoms associated with this disease are nonspecific, often resulting in misdiagnosis or missed diagnosis. Therefore, sharing and su...
Immunotherapy, including the use of immune checkpoint inhibitors such as nivolumab, is increasingly common in cancer treatment and can lead to various immune-related adverse effects, including rare cases of di...
Sleep disorders are a common health problem that can be classified into many types that are distinguished by their history and characteristics. In this case report, we discuss a case of a patient suffering fro...
Klinefelter syndrome is considered one of the most common sex chromosome disorders affecting males. The presence of an extra X chromosome can alter the tendency to develop various cancers, including lymphomas....
NeoDura (Medprin Biotech Gmbh) is an absorbable dural repair patch consisting of degradable poly-l-lactic acid and porcine gelatin that provides a hermetic closure of the dura mater (Medprin Biotech. Neodura. Dur...
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Journal of Medical Case Reports