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Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic ...
Plasmacytoma, a localized tumor of monoclonal plasma cells without any clinical, radiological or physical evidence of plasma cell neoplasm (PCN), is a rare entity that accounts for 1% of PCN. Immunoglobulin M ...
Autoimmune bullous disorders develop due to autoantibodies targeting intercellular adhesion proteins of hemidesmosomes and desmosomes and may be triggered by viral infections and vaccines. Recent reports sugge...
The BRCA2 gene is a well-known tumor suppressor gene implicated in breast and ovarian cancers. BRCA1/2 mutations can be sensitive to poly ADP-ribose polymerase (PARP) inhibitors such as olaparib. However, some of...
Transplant recipients are at high risk of coronavirus disease 2019, and a timely supply of antivirals should be prioritized for those patients. Complicated drug‒drug interactions limit the use of Paxlovid (nir...
Current evidence linking the development of Parkinson’s disease after the use of 3,4-methylenedioxymethamphetamine is mixed and limited, with only a few positive case reports demonstrating this.
Sclerosing angiomatoid nodular transformation of the spleen is a relatively rare benign vascular lesion in both adult and pediatric age groups with unclear etiopathogenesis and variable clinical presentations....
Myxomas are the most prevalent type of heart tumors, mainly occurring in the left atrium, with approximately 20% of cases found in the right atrium. Timely diagnosis and appropriate management of myxomas are c...
Sildenafil is a selective phosphodiesterase type 5 inhibitor used for the treatment of erectile dysfunction and pulmonary hypertension. It is available over the counter in many countries. While there have been...
Posttransplant lymphoproliferative disorder is one of the most severe complications after transplantation, caused by uncontrolled proliferation of Epstein–Barr virus-positive B-cells in the setting of chronic ...
Acrometastasis is an uncommon finding in non-small cell lung cancer and is usually a sign of multimetastatic disease. Few case reports have suggested solitary digital metastasis as the single secondary lesion ...
Hemorrhoidal disease is a common anorectal pathology. Complications post hemorrhoidectomy are rare. Postoperative complications following hemorrhoidectomy include bleeding (2%), infection (0.4–8%), urinary ret...
Metformin-induced lactic acidosis with acute kidney injury is rare but well known. Here we report a case of a Japanese patient taking metformin who experienced severe acute renal failure accompanied with signi...
Intrahepatic vascular shunts “IHVS” are abnormal communications between intra-hepatic vasculature involving the arterial, portal, or hepatic venous system. Arterio-portal fistula “APF” is an intrahepatic commu...
Intussusception is a rare condition in adults, accounting for 5% of intestinal intussusception and being responsible for approximately 1% of all adult bowel obstructions. Neoplastic origin is the most common e...
Salmonella meningitis is a rare but serious complication of Salmonella infection, primarily affecting infants, children, and immunocompromised individuals.
Patients who experience angina and acute myocardial infarction often receive diagnostic coronary angiography and percutaneous coronary intervention.
Rathke’s cleft cysts are thought to have a benign clinical outcome apart from associated hypopituitarism and visual defects. Synchronous central nervous system lesions, including pituitary adenoma and intracer...
Immune checkpoint inhibitors might cause immune-related adverse events that are still largely unknown.
Small airways disease (SAD), a novel finding described in post-acute COVID-19 patients, should be suspected when respiratory symptoms continue, air trapping persists on expiratory CT scans, and imaging finding...
Obstructive jaundice has various causes, and one of the rarest is pancreaticoduodenal artery aneurysm (PDAA), which is often associated with celiac axis stenosis caused by median arcuate ligament syndrome (MALS).
Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsibl...
Myasthenia gravis is an autoimmune condition affecting the neuromuscular junction and causing muscle weakness along with fatigue (myasthenia). When the clinical manifestations of myasthenia gravis are isolated...
Vaccine-induced thrombotic thrombocytopenia is associated with the coronavirus disease 2019 vaccines. It has been reported by vector-based vaccines. To the best of our knowledge, there is no report about vacci...
Acute presentations of acquired exotropia or divergent alignment of either or both eyes are commonly observed following intracranial vascular events, trauma, orbital, and endoscopic sinus surgeries.
Clostridium botulinum is an anaerobic, Gram-positive, rod-shaped bacterium that forms spores and the neurotoxin botulinum. It is best known for its toxin-induced flaccid paralytic disease, which is deadly without...
We report a case of prenatal coronavirus disease 2019, which evolved 6 days after birth into severe pneumonia with signs of multiple organ failure, in a mother with asymptomatic coronavirus disease 2019.
Hypercalcemia of malignancy, as a paraneoplastic syndrome, is the most common metabolic disorder that accounts for 30% of malignancies and usually has a poor prognosis. Neuroendocrine tumors are uncommon and a...
Granulomatosis with polyangiitis (GPA) is a rare small vessel vasculitis predominantly affecting upper and lower respiratory tract and kidneys. Unilateral diaphragmatic palsy could be a rare manifestation of G...
Acute myeloid leukemia is a rare event in post-liver-transplantation recipients. In the present report, we described a case of extramedullary acute myeloid leukemia, M4/M5 subtype, following orthotopic liver tran...
Bariatric surgery candidates commonly suffer from conditions that constitute the metabolic syndrome. But they also have a higher risk for autoimmune and malignant diseases. Obesity-associated comorbidities asi...
Immune checkpoint inhibitors have revolutionized therapy of advanced and metastatic cancers. However, a significant proportion of patients do not respond to immune checkpoint inhibitors or develop resistance. ...
Prostate cancer has been well known to have a high prevalence among middle-aged and older men, with high incidence of metastases to the bone—the main metastatic site. However, prostate cancer among those less ...
Intrauterine devices are a widely used method of contraception worldwide. These devices are reliable, cost-effective, long-acting, and reversible. Their placement in the uterus is usually simple and safe. Forg...
Since the identification of multiple therapeutic targets, as is the case of anaplastic lymphoma kinase (ALK) translocation, the paradigm of treating patients with non-small cell lung cancer (NSCLC) has improve...
There is some evidence supporting the idea that double parathyroid adenomas represent a different entity from multiglandular hyperplasia; however, the distinction among them is not straightforward.
There could be misdiagnosis of coronavirus disease 2019 for malaria and vice versa because of their similar presentations, particularly when clinicians rely mainly on symptoms for diagnosis. Coinfection with c...
Mediastinal Liposarcoma (ML) is an exceedingly rare neoplasm, accounting for less than 1% of all liposarcomas. Surgical resection is the most effective therapeutic modality, while adjuvant radiation therapy ma...
Fibrous dysplasia (FD) is a benign neoplasm with a broad spectrum of presentations. The treatment of FD in the hip region is controversial among orthopedic surgeons. Several treatment options exist, including ...
Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications. The presentation...
A spontaneous rupture of an omental vessel can cause severe intraabdominal hemorrhage. We present a case of idiopathic omental hemorrhage caused by a vascular malformation. The literature is systematically rev...
Deep neck space infections are uncommon in infants. Retropharyngeal abscess (RPA) is a deep space neck infection that can present with subtle signs and symptoms. Delay in diagnosis can lead to life-threatening...
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a systemic autoimmune disease characterized by mononuclear cell infiltration and small and medium-sized blood vessel destruction leading to r...
Intestinal Malrotation is congenital that complicates 1 in every 200 births. It results from abnormal fixation and rotation of the gut tube during fetal development. It is usually asymptomatic and most cases a...
Chest X-ray offers high sensitivity and acceptable specificity as a tuberculosis screening tool, but in areas with a high burden of tuberculosis, there is often a lack of radiological expertise to interpret ch...
Urinary bladder masses in children are extremely rare. Certain benign conditions (e.g., ureterocele) can mimic malignant bladder masses. In this report, we present a unique case of a urachal cyst masquerading ...
The Warburg effect is a rare condition in tumor biology, illustrated by significant lactate production in the presence of oxygen. The Warburg effect is associated with very poor prognosis in patients with mali...
Melioidosis is a serious disease caused by the bacterium Burkholderia pseudomallei which affects humans and animals. It results in a wide spectrum of clinical manifestations, mainly in the respiratory tract, prog...
Antiphospholipid syndrome (APS), defined by thrombotic events or obstetric complications in the presence of persistently high antiphospholipid antibodies, is characterized by a wide variety of clinical present...
Gorham–Stout disease is a rare condition with fewer than 400 reported cases in the literature. The presentation of Gorham–Stout disease varies on the basis of location, extent, fracture, and accompanying sympt...
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Journal of Medical Case Reports