Novel Pathogenic Variant of Fumarate Hydratase in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Case Report
1.1. Background: Hereditary leiomyomatosis and renal cell car cinoma syndrome (HLRCC) is a rare genetic disease, which is caused by the mutation of fumarate hydratase (FH) gene and in herited by autosomal dominance.
Acute ST-Elevation Myocardial Infarction in a 32-Year-Old Male Less than 2 Months after a Normal Coronary Computed Tomography Angiography
1.1. Background: Acute myocardial infarction (AMI) is an un common finding in young patients under age 35 and determination of etiological factors can be challenging. Coronavirus disease-2019 (COVID-19) and misuse of androgenic anabolic steroids (AAS) have both been associated with thrombotic events.
Eosinophilic gastroenteritis (EGE) is a rare disease characterized by the presence of gastrointestinal symptoms with an abnormal eosinophilic infiltrate of the intestinal wall and exclusion of oth er causes of secondary eosinophilic infiltration. EGE has various gastrointestinal symptoms depending on the depth of eosinophilic infiltration of the bowel wall: mucosal, muscular, or subserosal. In particular, EGE with ascites is uncommon among them, and mainly appeared in subserosal type.
Neuro-cysticercosis, a parasitic infection of the brain caused by T. solium, is the most common central nervous system parasitosis globally. Seizures, headaches, hydrocephalus and varying degrees of loss of consciousness are common manifestations. Most patients have few intracranial lesions but few present with encephalitic fea tures due to widespread multiple intracranial lesions. We report a one-year-old boy, who presented with low-grade fever, altered sensorium, seizures and features of raised intracranial tension.