Fatal Catecholamine-Induced Cardiotoxicity Associated with Pheochromocytoma: Report of a Postpartum Case and Review of the Literature.

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. Autopsy revealed a pheochromocytoma of the right adrenal with significantly elevated metanephrine concentrations and acute "myocarditis." Sudden excessive catecholamine release can cause cardiovascular complications and be rapidly fatal without significant elevation of blood pressure. Awareness of this association by the medical examiner/coroner is vital in order to properly classify the death and apprise relatives of the potential utility of genetic screening.

Sudden Death by Occult Metastatic Carcinoma.

A 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). PTTM is a well-described complication in patients with adenocarcinoma. The typical presentation involves acute pulmonary hypertension, right-sided heart failure, and sudden death, often before the adenocarcinoma is discovered. The pathophysiology of PTTM remains elusive; it has been suggested that carcinoma cells may produce substances that influence pulmonary vasculature. Our patient had classic clinical and histologic features of PTTM in addition to prominent extravascular compression by intralymphatic tumor cells. These features undoubtedly caused her precipitous decline and lethal pulmonary hypertension, induced by underlying adenocarcinoma. This case demonstrates that sudden death can occur from pulmonary hypertension induced by metastatic carcinoma with remarkably little prior symptomatology.

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Dystroglycanopathies 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. We report the clinical, neuroimaging, and genetic features of 4 additional patients. We confirm that gross deletions and rearrangements are important mutational mechanisms for LARGE. The brain abnormalities overshadowed the initially mild muscle phenotype in all 4 patients. We present the first comprehensive postnatal neuropathology of the brain, spinal cord, and eyes of a patient with a homozygous LARGE mutation at Cys443. In this patient, polymicrogyria was the predominant cortical malformation; densely festooned polymicrogyria were overlaid by a continuous agyric surface. In view of the severity of these abnormalities, Cys443 may be a functionally important residue in the LARGE protein, whereas the mutation p.Glu509Lys of Patient 1 in this study may confer a milder phenotype. Overall, these results expand the clinical and genetic spectrum of dystroglycanopathy.

Asphyxiation caused by giant fibrovascular polyp of the esophagus.

Giant 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. Diagnosis is best made by upper endoscopic evaluation; surgical excision is the definitive treatment. Although rare, asphyxia resulting from obstruction of the glottis is the most serious complication. We describe a case of asphyxiation caused by laryngeal occlusion by a giant esophageal polyp and we provide a review of the literature.