Squamous cell carcinoma of the hypopharynx in a young woman with Fanconi's anemia.

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.

Cardiac sarcoidosis with severe involvement of the right ventricle: a case report.

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.

Pheochromocytoma-induced shock: a case report.

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.

Necrópsia e educação médica / Autopsy and medical education

Desde os anos 1970, assiste-se, em todo o mundo, a uma progressiva queda no número de necrópsias em casos de morte decorrente de causas naturais. Atribui-se esse fato, entre outras razões, ao excesso de confiança por parte de muitos dos médicos contemporâneos que,por disporem de refinados métodos de diagnóstico, julgam-se imunes ao erro. No entanto, contrariando as expectativas, a incidência de erros detectados pelas necrópsias permanece elevada, particularmente em se tratando de pacientes idosos e/ou daqueles atendidos em estado crítico. Como consequência da queda do número de necrópsias, os tradicionais exercícios de correlação anatomoclínica desenvolvidos a partir do exame do cadáver estão ameaçados de extinção, com indiscutível prejuízo para a formação das novas gerações de médicos. Na condição de coordenador, desde 1995, das Sessões Anatomoclínicas do Hospital das Clínicas da UFMG, o autor advoga a reincorporação dessa atividade ao currículo dasescolas médicas, sob pena de se perder um até hoje insuperável recurso pedagógico.

In recent decades, there has been a increasingly worldwide fall in non-forensic autopsy rates. This is due, among other factors, to the overconfidence of modern physicians. In fact, having access to cutting-edge diagnostic technologies, they are inclined to consider themselves immune to error. Nevertheless, contrary to expectations, the incidenceof diagnostic errors uncovered by autopsy remains quite significant, particularly regarding the elderly and critically ill patients. As a consequence of the dramatic fall in autopsy rates, Clinicopathological Conferences, a seminal tool for medical education, face extinction. Taking into account the extraordinary heuristic value of autopsy-basedanatomoclinical exercises, the author advocates the revitalization of this traditional practice in medical schools.

Carcinoma de células escamosas da hipofaringe em mulher jovem com anemia de Fanconi / Squamous cell carcinoma of the hypopharynx in a young woman with Fanconi's anemia

A anemia de Fanconi é um raro distúrbio autossômico recessivo caracterizado por malformações congênitas, aplasia da medula óssea e instabilidade genômica, com predisposição ao desenvolvimento de neoplasias malignas, em especial as leucemias e os tumores do trato aerodigestivo alto. Em razão de características inerentes à síndrome em questão, o tratamento de tais neoplasias é particularmente difícil. Relata-se o caso de anemia de Fanconi uma jovem de 24 anos, que desenvolveu carcinoma de células escamosas da hipofaringe, na ausência de fatores de risco como o tabagismo e o alcoolismo, e faz-se uma revisão sumária da literatura a respeito do tema.

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 FanconiÆs 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

Luigi Bogliolo / Luigi Bogliolo

Registra-se, de forma sumária, a trajetória do notável patologista sardo Luigi Bogliolo, docente das Universidades de Sassari, Bari e Pisa, que, obrigado a emigrar para o Brasil em virtude de sua posição antifascista, criou em Belo Horizonte, a partir de 1944, na Faculdade de Medicina da UMG (depois UFMG), uma Escola de Patologia que se imporia, por seu alto nível, no cenário científico do pais adotivo.

The author presents a brief biography of Luigi Bogliolo, a sardinian pathologist who emigrated to Brasil during the World War II and created in Belo Horizonte (MG) an important School of Pathology.

Carbúnculo renal / Renal carbuncle

Os autores relatam um caso de carbúnculo renal tratado com sucesso, mediante a administraçäo prolongada de oxacilina e chamam a atençäo para a importância dos métodos de diagnóstico por imagem no reconhecimento da afecçäo.

Pielonefrite xantogranulomatosa: relato de cinco casos e revisäo da literatura / Xanthogranulomatous pyelonephritis: report of five cases and review of the literature

Os autores descrevem cinco casos de pielonefrite xantogranulomatosa em mulheres com idades variando entre 22 e 67 anos e fazem uma revisäo da literatura a respeito dessa instigante afecçäo. Uma paciente (caso 3) apresentou-se em franca insuficiência renal e com sinais de doença bilateral. Todas as pacientes foram submetidas à nefrectomia. Em dois casos (4 e 5) suspeitou-se do diagnóstico no pré-operatório: ambas as pacientes exibiam uma massa no flanco esquerdo acompanhada, no caso 4, de um extenso derrame pleural ipsilateral e, no caso 5, de drenagem de material purulento ao nível da regiäo lombar. No caso 1, no sexto dia pós-operatório, desenvolveu-se uma fístula estercoral, fazendo-se necessária a realizaçäo de uma colostomia transversa seguida, nove meses depois, da reconstituiçäo do trânsito intestinal.