Pheochromocytomas and paragangliomas are catecholamine-secreting tumors characterized by excessive adrenergic stimulation. Common manifestations include hypertension, headache, sweating, and palpitations; however, rare life-threatening conditions have also been reported and include cardiovascular shock, myocardial infarction, arrhythmias, and cardiomyopathy. We report a case of a previously healthy 31-year-old postpartum female presenting with headache who died suddenly in an emergency room.
View Article and Find Full Text PDFA 33-year-old female collapsed and died suddenly after presenting with acute dyspnea and increasing cough over the preceding several months. Autopsy revealed poorly differentiated linitis plastica adenocarcinoma of the stomach. Microscopic examination of the lungs showed features consistent with pulmonary tumor thrombotic microangiopathy (PTTM).
View Article and Find Full Text PDFDystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with affected or normal cognition and later onset. Mutations in dystroglycanopathy genes affect a specific glycoepitope on α-dystroglycan; of the 14 genes implicated to date, LARGE encodes the glycosyltransferase that adds the final xylose and glucuronic acid, allowing α-dystroglycan to bind ligands, including laminin 211 and neurexin. Only 11 patients with LARGE mutations have been reported.
View Article and Find Full Text PDFGiant fibrovascular polyps of the esophagus are rare, benign, "tumorlike" lesions that typically present as large pedunculated growths arising in the cervical esophagus. The predominant histologic component of these lesions is variable, often resulting in misdiagnosis. Clinically, these polyps present with nonspecific symptoms and are often undiagnosed or misdiagnosed until they are significant in size.
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