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Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal ...
Behçet’s disease is a progressive diffuse inflammatory vasculitis characterized by recurrent oral and genital ulceration and ocular inflammation. Cardiac involvement is a rare but well-documented manifestation...
Inflammatory myofibroblastic tumor is a rare tumor of a borderline malignancy. Although it is commonly seen in children, the number of childhood cases in the current literature is limited. The lung is the most...
Currently, there is no standard salvage regimen after the failure of cisplatin-based chemotherapy for advanced urothelial carcinoma. The combination of epidermal growth factor receptor inhibitor with fluoroura...
Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascul...
Heatstroke is a life-threatening condition defined by failure of heat load dissipation, resulting in a core temperature higher than 40 °C (104 °F) associated with neurological dysfunction. Topiramate may cause...
Efavirenz is a commonly prescribed antiretroviral drug that is largely well tolerated. However, seizure disorder is a rare side effect. Prompt identification and immediate replacement of efavirenz with an alte...
Primary cardiac tumors are rare and often asymptomatic or present with unspecific symptoms. Benign cardiac tumors of vascular origin are especially rare, with only few existing data in the literature.
A calcified amorphous tumor of the heart is an extremely rare cardiac mass.
Electrophysiological studies have become an established practice in the evaluation and treatment of arrhythmias. Symptomatic pulmonary embolism as a result of deep vein thrombosis arising from multiple venous ...
Neurology case reports have a long history of transmitting important medical information across many generations for the improvement of patient care. Case reports contribute much to the physician’s knowledge b...
A case report is a detailed narrative that usually illustrates a diagnostic or therapeutic problem experienced by one or several patients. Case reports commonly serve as the first line of evidence for new inte...
Clinicians use various clinical reasoning tools such as Ishikawa diagram to enhance their clinical experience and reasoning skills. Failure mode and effects analysis, which is an engineering methodology in ori...
Case reports are an increasing source of evidence in clinical medicine. Until a few years ago, such case reports were emerged into systematic reviews and nowadays they are often fitted to the development of cl...
Acute aortic dissection is an extreme emergency that is generally manifested by violent chest pain irradiating to a patient’s back and abdomen. Paraplegia due to spinal cord ischemia and infarction as a presen...
Simvastatin is commonly prescribed for hypercholesterolemia to reduce vascular risk in patients. Some of these patients have dementia with cognitive defects of several domains. Although protective effects seem...
Percutaneous renal biopsy is a valuable procedure in the management of and prognostication for patients with renal disease. Complications, although rare, occur with renal biopsies. Arteriovenous fistulas and h...
Rapidly destructive osteoarthritis of the hip and rapid chondrolysis of the lateral compartment of the knee or the shoulder are rare, but have been previously described in the medical literature. To the best o...
A honeycomb-like structure in the coronary artery is rarely diagnosed by intracoronary ultrasound or optical coherence tomography. Further, its structural mechanisms and response to interventional therapy rema...
Extramedullary plasmacytoma is a plasma cell neoplasm that presents as a solitary lesion in soft tissue. Most extramedullary plasmacytomas involve the nasopharynx or upper respiratory tract. Primary plasmacyto...
Leptomeningeal carcinomatosis is a condition in which metastatic cancer cells infiltrate the meninges of the brain and spinal cord, progressing to also involve the cerebrospinal fluid. Incidence of leptomening...
Neuropathy is a rare adverse side effect of disulfiram therapy and is under-recognized. There have been few case reports documenting this side effect.
Cellular angiofibroma represents a rare mesenchymal tumor typically involving the inguinoscrotal area in middle-aged men. Although the origin of this benign tumor is unknown, it is histologically classified as...
Thyrotoxicosis after total thyroidectomy is mostly iatrogenic. Rarely, a hyperfunctional thyroid remnant or ectopic tissue may be the cause. There are few cases of Graves’ disease arising from thyroid tissue l...
The coexistence of glial high grade tumors (glioblastoma, anaplastic astrocytoma) and cerebral aneurysms is common but the association with optic glioma is rare. The treatment of these associated lesions is pr...
Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for...
We present a case of amyloid light-chain amyloidosis with occult plasma cell dyscrasia, with the rare initial presentation of gastroparesis. While amyloidosis is known to affect the gastrointestinal system, ra...
Migration to the UK has increased considerably, which is reflected in the diverse multicultural population which includes asylum seekers and economic migrants. Differences in ethnic and cultural values between...
Dravet syndrome, a rare genetic disorder with early-onset epileptic encephalopathy, was first described by Dravet in 1978. Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding...
Acute cholestatic hepatitis without features of infectious mononucleosis is a rare presentation of primary Epstein–Barr infection, with only several cases previously reported in the medical literature. Early i...
Septic arthritis of the sternoclavicular joint is rare. It can be associated with serious complications such as osteomyelitis, chest wall abscess, and mediastinitis. In this report, we describe a case of an ot...
Esophageal verrucous carcinoma is a rare variant of esophageal squamous cell carcinoma. In most cases, verrucous carcinoma presents as an exophytic, slow-growing mass with an extensive superficial growth patte...
Penetrating neck trauma involving foreign bodies is a rare event in European countries. Due to its relatively high mortality rate, the correct management strategy must be initiated from the beginning to preven...
Dengue viral infections are known to pose a significant risk during travel to tropical regions, but it is surprising to find dengue transmission in the hilly region of Nepal, which is over 1800mtr above sea le...
Distinguishing an atypical lipomatous tumor/well-differentiated liposarcoma from a benign lipomatous tumor on morphology alone can be difficult and there is an established role for MDM2 fluorescent in situ hybrid...
We present a case of unsuspected Paget-Schroetter syndrome (also called effort thrombosis), one of the rare causes of upper extremity deep vein thrombosis. To the best of our knowledge, this was the first such ca...
Osseous choristoma is a very rare, benign lesion in the maxillofacial region. It appears as a benign mass of normally matured bony tissue covered by the normal epithelium of the tongue. It is usually seen in f...
Monomelic amyotrophy is an uncommon, benign, unilateral disorder of the lower motor neurons, affecting predominantly the hand and forearm muscles. Proximal involvement of the arm and shoulder muscles is an unu...
An estimated 3700 individuals are seen annually in US emergency departments for nail gun-related injuries. Approximately 45 cases have been reported in the literature concerning nail gun injuries penetrating t...
Inflammatory pseudotumor is a rare clinical condition that can be related to immunoglobulin G4 disease. Only a few cases of spinal inflammatory pseudotumors have been reported in the literature and an associat...
Uterine carcinosarcoma is well known for its aggressive behavior. There is little evidence regarding the gold standard combination chemotherapy in metastatic or locally advanced carcinosarcoma, due to poor sur...
Non-Hodgkin lymphomas are a heterogeneous group, which involve either B or T lymphocytes. The most used treatment is a chemotherapy regimen, which includes cyclophosphamide, hydroxydaunorubicin, oncovin and pr...
Spontaneous coronary artery dissection is an uncommon syndrome. Its prevalence among patients with polycystic kidney disease is very rare, with no previously reported involvement of the right posterior descend...
Several approaches for treating severe uterine cervical stenosis after conization for cervical intraepithelial neoplasia have been reported; yet, the condition can still be difficult to treat successfully.
Penile cancer is a relatively uncommon cancer in developed nations. Metastatic disease is rare, but lymphatic or vascular spreading has been previously reported to the liver, lungs, bones, brain, heart and skin.
Painless legs and moving toes syndrome is a very rare syndrome characterized by continuous and involuntary movement of the toes. The etiology of the disease is not clear though it has been linked to a wide ran...
Invasive urothelial carcinoma, lymphoma-like/plasmacytoid variant, is a rare histological type of bladder cancer similar to plasma cells and is an aggressive variant of urothelial carcinoma associated with a p...
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Journal of Medical Case Reports