Because of its rarity, together with the variability and nonspecificity of its signs and symptoms, pheochromocytoma, a tumor arising from chromaffin cells, creates an unlucky paradox: it is often missed but only rarely found. Besides the association with arterial hypertension, often in the form of paroxysmal attacks, pheochromocytoma may also be associated, in up to 40% of cases, with orthostatic hypotension which, when present, provides a clue to the diagnosis of the tumor. Far more rare (about 2% of cases) is the clinical presentation in the form of shock, a possibility that, among other attributes, justifies the epithet “the great mimic” applied to the neoplasia. The authors report the case of a 51-year-old hypertensive woman whose death was erroneously attributed to septic shock. Autopsy disclosed an unsuspected left adrenal bulky pheochromocytoma with areas of hemorrhage and extensive central necrosis, pronounced pulmonary edema, left ventricular mural thrombus, and histological evidence of acute myocardial injury.
Knowledge of human anatomy was acquired through dissections of the human body that may have begun as long as 4000 years ago, in Babylonian times. Later documentation was in Egyptian times (3000 BC-1600 BC), as exemplified with the Ebers and other papyri. Around 300 BC, the Greek physician, Herophilus (335-280 BC), wrote a treatise on human anatomy and Erasistratus (304-250 BC), his student and colleague at the medical school of Alexandria, produced the first description, albeit brief, of liver cirrhosis observing that the liver of a man who died with anasarca ("hydrops") was "as hard as a rock", contrasting it with the soft consistency of the liver of another man who died from the bite of a poisonous snake. This description is evidence of Erasistratus's ability, based on observation, to correlate the diseased organ with the consequence of its involvement and may be the first example of a clinicopathological correlation.
We present the case of a patient who underwent cardiac transplantation with the diagnosis of idiopathic dilated cardiomyopathy. Once the explanted heart was examined, a type of granulomatous myocarditis compatible with cardiac sarcoidosis was observed. However, there was severe involvement of the right ventricle, with markedly reduced width of the muscular layer and extensive fibrofatty replacement, findings similar to the ones encountered in cases of arrhythmogenic right ventricular cardiomyopathy (ARVC). Confocal immunofluorescence analysis revealed a reduced signal for plakoglobin and desmoplakin at the cardiac intercalated disks. The immunoreactive signal for desmin showed the typical sarcomeric distribution but not a concentrated signal at the intercalated disks, a pattern previously seen in an 11-year-old girl with Carvajal syndrome bearing a C-terminal truncating mutation in the desmoplakin gene. This case illustrates the difficult and challenging work involved in performing a differential diagnosis among idiopathic dilated cardiomyopathy, isolated cardiac sarcoidosis, and ARVC, all of which are clinical entities known to masquerade as one another.
Fanconi 's anemia is a rare autosomal recessive disorder characterized by congenital malformation, bone marrow failure and genomic instability, with a predisposition to develop malignancies, especially the leukemias and upper aerodigestive tract tumors. Due to inherent characteristics to this syndrome, the treatment of such neoplasms is particularly difficult. In this paper we report the case of a 24-year-old woman with Fanconi's anemia who developed a squamous cell carcinoma of the hypopharynx; she had none of the traditional risk factors, such as smoking and alcohol abuse. We also briefly review the literature about this topic Keywords: fanconi's anemia, squamous cell carcinoma, hypopharynx. Rev Bras Otorrinolaringol 2006;72(6): 845-8. CASE REPORT
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