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β-Thalassemia major is a complex, multisystemic condition. Effective transfusion programs, optimal iron chelation therapy, and progresses in magnetic resonance imaging have significantly improved patient survi...
Fragility fractures of the pelvis are low-energy pelvic ring fractures commonly occurring in older adults. Early diagnosis of fragility fractures of the pelvis is important because of the possibility of fractu...
Choroidal metastasis is the most common intraocular malignancy in adults, commonly presenting in later stages of the disease and associated with poor prognosis. This is the first case to describe choroidal inv...
Mycosis fungoides is a type of cutaneous T-cell malignancy that gives different skin manifestations. Hyperpigmented mycosis fungoides is a very rare type of mycosis fungoides that presents with hyperpigmented ...
Despite appropriate interventions, healing following hamstring strain tends to be slow. Prediction for return to play is inconsistent, and recurrence of injuries is high, which poses a challenge and burden to ...
Systemic lupus erythematosus is a chronic autoimmune multisystemic disease in which ocular manifestations occur in up to one-third of patients. Although retinal vasculitis is a recognized feature of systemic l...
Vaccine uptake has declined since the coronavirus disease 2019 pandemic began. The pandemic changed people’s perception about vaccination due to factors such as increasing mistrust in government, spread of mis...
Tubulocystic renal cell carcinoma is a rare type of renal cell carcinoma (< 1%). Tubulocystic renal cell carcinoma was first acknowledged by the World Health Organization in 2016. Tubulocystic renal cell carci...
A rare finding, the glomus tumor is made up of cells that resemble modified smooth muscle cells. It usually arises in the deep dermis of the palms and the wrists. However, it can still appear in atypical place...
Rhabdomyolysis is a clinical syndrome resulting from skeletal muscle damage and the release of its breakdown products into the bloodstream. It can range from asymptomatic cases to severe conditions such as acu...
Kearns–Sayre syndrome is a rare autosomal recessive mitochondrial disorder characterized by progressive external ophthalmoplegia and pigmentary retinopathy. Onset typically occurs before the age of 20 years an...
Salivary gland tumors are rare, representing 6–8% of head and neck tumors. Adenoid cystic carcinoma represents approximately 10% of salivary gland tumors. The preferential sites of metastases are the lung and ...
Neuroendocrine neoplasms are a group of neoplasms often originating from the neuroendocrine cells in the gastrointestinal tract, pancreas, and respiratory tract. Neuroendocrine neoplasms rarely occur in female...
Cervical esophageal adenocarcinoma is a rare tumor often associated with Barrett’s esophagus, and its prevalence is lower than distal esophageal adenocarcinoma. Upper esophageal malignancies are usually squamo...
Pediatric antiphospholipid syndrome is a rare systemic autoimmune disorder characterized by recurrent thrombotic events in the presence of antiphospholipid antibodies. Isolated right renal vein thrombosis resu...
Renal-origin Ewing’s sarcoma is an extremely rare malignancy often misdiagnosed owing to its nonspecific presentation and similarities to other renal tumors. Accurate diagnosis requires a combination of clinic...
While 20% of ectopic ureters are bilateral, bilateral single-system ectopic ureters constitute a rare occurrence. They present as continuous incontinence in females owing to the ectopic ureteral openings being...
Pulmonary artery thrombosis in neonates is a rare entity. We describe a neonate with this diagnosis as well as his presentation, evaluation, and management. This case highlights the importance of cardiac ultra...
Chemotherapy can cause oral complications either directly, by inducing mucosal degeneration, or indirectly, through myelosuppression leading to neutropenia. Neutropenia, a common side effect, is often associat...
Mixed sex cord stromal tumor is defined as a tumor consisting of various combinations of sex cord stromal elements, and the tumor is extremely rare.
Bronchopleural fistula is a rare and severe condition characterized by an abnormal connection between the bronchial tree and pleural space, often leading to significant morbidity and mortality. Although typica...
Chromophobe renal cell carcinoma is a rare histological subtype, accounting for only 5–6% of renal cell carcinoma cases. It exhibits low aggressiveness and has an overall favorable prognosis with a very low ri...
Cerebral venous sinus thrombosis is a rare but potentially life-threatening condition resulting from the formation of a thrombus in the venous sinuses in the brain, resulting in impaired venous drainage, incre...
Retinal artery occlusion due to infective endocarditis is rare, and only a few cases have been reported in literature. Systematic and comprehensive studies of patients with this ophthalmological disease may he...
Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This cond...
Baclofen can relax muscle spasticity by inhibiting the transmission of both mono- and polysynaptic reflexes at the spinal cord. It has been increasingly used off-label for the management of spinal cord lesions...
Pheochromocytoma is a rare adrenal medulla tumor that overproduces catecholamines, causing major cardiovascular issues. It is often found incidentally during imaging, but large tumors pose unique perioperative...
Female inguinal hernias are rare to see. All inguinal hernias in females occur as indirect hernias. A single hernia sac is usually seen, but the occurrence of more than one sac in female indirect inguinal hern...
Free fibula reconstruction of the mandible has been the gold standard for reconstruction of mandible owing to its rich periosteal and peroneal blood vessel supply. This demands a multidisciplinary approach of ...
Brucellosis is one of the most prevalent zoonotic diseases worldwide, posing a significant public health concern across both developed and developing nations. While musculoskeletal system involvement is the mo...
Ankle arthrodesis is the most frequently performed salvage procedure for pyogenic arthritis. However, its failed fusion rate of approximately 15% has been considered problematic. Herein, we present a case of p...
The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis an...
Acute necrotizing encephalopathy is a rare, clinically distinct subgroup of acute encephalopathy, which may be a complication of coronavirus disease 2019.
Intestinal myiasis is a type of myiasis resulting from the accidental consumption of Clogmia albipunctata larvae. This type of myiasis generally displays symptoms such as nausea, vomiting, abdominal distention an...
Hereditary antithrombin deficiency, an autosomal-dominant thrombotic disease caused by a SERPINC1 gene deficiency, is extremely rare, although it is the leading cause of hereditary thrombophilias. Herein we repor...
Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular d...
Hookworm infection remains of considerable importance to public health. However, because critical cases caused by hookworm infection are rarely observed in China, accurate and prompt diagnoses are difficult to...
Eosinophilic esophagitis is a condition characterized clinically by symptoms related to esophageal dysfunction and histologically by a marked eosinophilic infiltrate in the esophageal mucosa. The most typical ...
Gastric xanthelasma is a rare, benign lesion with uncertain clinical significance. Despite its asymptomatic nature, it may coexist with conditions like chronic gastritis and iron deficiency anemia.
This case report explores the rare complication of a pseudocyclops lesion within an anterior cruciate ligament autograft, identified in a patient with a recent knee injury and an existing anterior cruciate lig...
Even in the era of new-generation drug-eluting stents, in-stent restenosis remains a common and challenging problem of percutaneous coronary intervention. Among the many factors that contribute to in-stent res...
Systemic lupus erythematosus is a systemic autoimmune disease affecting different organ systems. Gastrointestinal symptoms in patients with systemic lupus erythematosus are common. But systemic lupus erythemat...
To date, there have been few detailed reports of the clinical findings in cases of fungal blepharitis. In this report, we present a rare case of anterior blepharitis in a Japanese child in whom Candida albicans w...
Tuberculosis immune reconstitution inflammatory syndrome is an uncommon condition caused by excessive immune response against Mycobacterium tuberculosis. We report on a case which may have been precipitated by co...
Follicular variant papillary thyroid carcinoma is a distinct subtype of papillary thyroid carcinoma that can occasionally present with aggressive features, including distant metastases and extrathyroidal exten...
Weil’s disease is an infection caused by Leptospira bacteria. Leptospirosis may cause arrhythmias, such as atrial fibrillation and ST-T segment changes. We report a rare case of total atrioventricular block induc...
Cutaneous tuberculosis is reported to be rare, especially in human immunodeficiency virus-negative patients but probably also underdiagnosed. This is because it presents with pictorial and anatomoclinical poly...
Vasculitis encompasses a group of disorders characterized by inflammation of blood vessel walls, leading to diverse clinical presentations on the basis of the size and location of the affected vessels. Gastroi...
Tuberculosis is one of the deadliest diseases worldwide, with an estimated incidence of more than 10 million new cases annually. As part of bone and joint tuberculosis (5–6% of all extrapulmonary tuberculosis ...
Leishmaniasis is a zoonotic disease caused by unicellular protozoa of the Leishmania genus. The infection can spread through zoonotic or anthroponotic transmission, depending on the species, with the phlebotomine...
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Journal of Medical Case Reports