Acardius is one of the most severe human malformations, a rare complication present only in monozygotic and monochorionic multiple pregnancies. In this disorder, the major defect is the lack of ...well-defined cardiac structure in acardiac fetus, whose irrigation is maintained through placental vascular anastomoses with the normal fetus, called fetal donor, thereby establishing a reverse arterial perfusion in the umbilical cord of the acardiac twin (TRAP sequence). The poor circulation leads to a state of hypoxia in the early stages of fetal development, causing structural abnormalities, with different phenotypes, which are classified as: Acardius acephalus, anceps, and acormus amorphus. We relate a case of an acardiac anceps fetus that interestingly was reported by the physicians to present spasmodic movements just after the delivery. Due to severe malformations observed in an acardiac twin by the time of delivery, it is likely that many cases go unnoticed or misdiagnosed. The pathological findings are briefly reviewed to provide an adequate post mortem diagnosis of acardiac fetus and placental examination.
Myocardial fatty infiltration is a diagnostic challenge for clinicians and pathologists once it may be found as part of normal myocardial tissue or may be a manifestation of diseases responsible for ...fatal outcomes like sudden death, arrhythmias and heart failure. Differential diagnosis between the diseases related to myocardial fatty infiltration as, Adipositas Cordis and Arrhythmogenic Dysplasia of the Right Ventricle requires clinical, laboratory and histopathological correlation. The authors present a case of a previously healthy patient, non obese, who unexpectedly presented a refractory hypotension after a physiologic stress characterized by immediate post operatory. The necropsy findings showed fatty infiltration of the heart characterizing the histological features of Adipostas Cordis. This finding explained the right ventricle failure and consequent refractory hypotension.
Streptococcus agalactiae
is a well-known pathogen during pregnancy and in neonates. Among non-pregnant adults, invasive infection, although rare, is showing increasing frequency, especially in ...chronically ill, immunosuppressed, or older patients. Although rare, the clinical features of meningeal infection caused by
S. agalactiae
are similar to other bacterial meningitis. The authors report the case of a middle-aged man previously diagnosed with hypertension, diabetes mellitus, and alcoholic liver cirrhosis, who was admitted at the emergency department with a Glasgow Coma Scale of 11/12, generalized spasticity, bilateral Babinski sign, and hypertension. The clinical outcome was bad, with refractory shock and death within 24 hours of hospitalization. The bacteriological work-up isolated
S. agalactiae
in the cerebral spinal fluid (CSF), blood, and urine. An autopsy revealed meningoencephalitis, acute myocardial infarction, and pyelonephritis due to septic emboli. The authors point out the atypical CSF findings, the rapid fatal outcome, and the importance of including this pathogen among the etiologic possibilities of invasive infections in this group of patients.
The authors describe a peculiar form of Epstein-Barr virus (EBV)-associated T-cell lymphoma in an HIV-positive patient presenting an aggressive clinical course. Unlike most other EBV-positive ...T-cell/natural-killer (NK)-cell lymphomas, the disease was characterized by predominant nodal involvement at presentation. T-cell lineage was confirmed by T-cell receptor-rearrangement, and neoplastic cells exhibited strong and diffuse CD56 expression. A marked intravascular component was detected in the skin, the liver, and the lung parenchyma. This entity was not predicted in the WHO 2008 classification, but has been recently identified in immunocompromised patients. This case report refers to a middle-aged man with AIDS, who presented a 4-month history of weight loss, fever, hepatosplenomegaly, peripheral and deep-chain lymphadenopathy. A blood smear showed lymphocytosis with a marked presence of atypia. The outcome was unfavorable and the patient could not be treated. The autopsy revealed multivisceral involvement, including lymph nodes, spleen, bone marrow, liver, lungs, skin, and kidneys.
Sickle Cell Disease encompasses a group of disorders related with the hemoglobin S and other hemoglobin genotypes. The clinical manifestation and the severity of symptoms are dependent on the ...specific genotype. In this setting, homozygous genotype (HbSS) presents an early onset of symptoms and a low expectancy of lifetime. However, the SC genotype (HbSC), which apparently shows a less severe clinical course, may exhibit the same complications of HbSS. These complications are usually manifested late in the course of life, when compared with the HbSS patients. It is noteworthy that HbSC may present a normal hematocrit, and therefore stays unknown until the first complication, that may be disastrous. The authors report a case of an African-Descendant woman, aging 65 years, with no previous diagnosis of anemia who sought medical attention because of a thoracic back pain followed by fever and altered mental status. The clinical picture deteriorated very fast with multiple organ failure and death. The autopsy findings concluded by generalized vaso-occlusive crisis, bone marrow necrosis and bone marrow and fat embolism, mainly to the lungs and kidney. The authors call attention for the knowledge of this severe life threatening complication, mainly in a country with a high Afro-Descendant population.
Sickle Cell Disease encompasses a group of disorders related with the hemoglobin S and other hemoglobin genotypes. The clinical manifestation and the severity of symptoms are dependent on the ...specific genotype. In this setting, homozygous genotype (HbSS) presents an early onset of symptoms and a low expectancy of lifetime. However, the SC genotype (HbSC), which apparently shows a less severe clinical course, may exhibit the same complications of HbSS. These complications are usually manifested late in the course of life, when compared with the HbSS patients. It is noteworthy that HbSC may present a normal hematocrit, and therefore stays unknown until the first complication, that may be disastrous. The authors report a case of an African-Descendant woman, aging 65 years, with no previous diagnosis of anemia who sought medical attention because of a thoracic back pain followed by fever and altered mental status. The clinical picture deteriorated very fast with multiple organ failure and death. The autopsy findings concluded by generalized vaso-occlusive crisis, bone marrow necrosis and bone marrow and fat embolism, mainly to the lungs and kidney. The authors call attention for the knowledge of this severe life threatening complication, mainly in a country with a high Afro-Descendant population.
First described by Berti in 1866, gastric volvulus (GV) is an uncommon and potentially lethal entity. GV occurs when the stomach twists by more than 180º resulting in obstruction of the alimentary ...tract, visceral ischemia, necrosis, and perforation. It is classified according to the rotation axis in organoaxial, mesenteroaxial or a combination of both. The clinical presentation can be acute, and is usually severe or chronic, which sometimes may be asymptomatic. It predominantly occurs in the fifth decade of life, but children, mainly those under the age of 1 year, may be affected. No ethnicity or gender was observed to show predominance. This entity is related to gastric, diaphragmatic disorders as well as laxity of gastric ligaments. Acute GV may complicate with incarceration and strangulation of the stomach when gastric necrosis ensues. These cases show a mortality rate of 60%. The authors report the fatal case of a surgically treated GV in a 43-year-old female patient who looked for medical care only after 1 month of initial symptoms. Diagnosis was confirmed with a thoracic and abdominal axial computed tomography. Besides the entire stomach being herniated and twisted into the thoracic cavity, the pancreas was pulled up through the hiatal orifice, provoking acute pancreatitis. Because of gastric necrosis and perforation, gastroenteric fluid drained into the mediastinum and left pleural space. The postoperative outcome was unfavorable resulting in the patient’s death. The authors call attention to the severeness of the disease, and therefore the need of precocity of diagnosis and surgical treatment.
NTRODUÇÃO: Neoplasias mucinosas primárias do ovário apresentam muitos pontos de controvérsias em relação ao seu padrão de diferenciação, sendo classificadas como tumores benignos, borderline e ...malignos.Elas também são classificadas em diferentes fenótipos, recentemente designadas como gastrointestinal e seromucinoso. Sua heterogeneidade tem produzido não somente dificuldades na classificação morfológica e no diagnóstico diferencial com neoplasias metastáticas, mas também na compreensão da patogênese e na interpretação imunoistoquímica. O fenótipo gastrointestinal tem sido pouco explorado em relação a possíveis diferenças entre os padrões de diferenciação gástrico e intestinal, desde que os dois são geralmente analisados juntos. Os tumores mucinosos borderline, considerado um estágio precoce da carcinogênese dos tumores mucinosos, são freqüentemente associados com pseudomixoma peritoneal (PMP), o qual foi recentemente relacionado a neoplasias mucinosas do apêndice cecal. O propósito deste estudo foi analizar os diferentes padrões morfológicos de apresentação dos tumores mucinosos do ovário e sua associação com o potencial de malignidade e o perfil imunoistoquímico. MATERIAL E MÉTODOS: Este estudo retrospectivo incluiu 72 tumores de 63 pacientes com diagnóstico patológico presumido de tumor mucinoso primário de ovário selecionados dos arquivos da Divisão de Patologia Cirúrgica da Faculdade de Medicina da Universidade de São Paulo, de 1996 a 2005. Todos as lâminas da população de pacientes foram revisadas e classificadas de acordo com os critérios da WHO. Marcação imunoistoquímica para produtos do gene de mucina (MUC1, MUC2, MUC5AC e MUC6), RE, RP, CK7, CK20, CA19.9 e CA125 foram feitos em tissue microarrays. RESULTADOS: Nossos resultados mostraram 28 tumores benignos, 35 borderline e 9 malignos distribuídos nos fenótipos: pilórico (11), intestinal (30), gastrointestinal (20), mülleriano (4) e misto (gastrointestinal e mülleriano) (7). Seis pacientes tinham PMP associados. O estudo imunoistoquímico foi realizado em 67 tumores. Os tumores pilóricos apresentaram-se mais freqüentemente como tumores benignos (72.7%) e tiveram um perfil imunoistoquímico diferente de MUC2 (p= 0.003) e CA19.9 (p= 0.04) quando comparado com o fenótipo intestinal. MUC1 foi mais expresso entre os tumores com diferenciação mülleriana (pura ou mista) (100%, p= 0.02) quando comparado aos tumores de outros fenótipos. Os receptores hormonais foram positivos somente no fenótipo mülleriano. Os tumores borderline foram mais freqüentes nos fenótipos intestinal e gastrointestinal (37.1% e 40%), e estavam associados a PMP em 25% dos casos. Todos os tumores ovarianos associados a PMP eram de tipo histológico borderline e com fenótipo intestinal. O perfil dos tumores borderline de tipo intestinal, mesmo nos casos sem PMP, foi distinto dos outros tumores mucinosos de tipo intestinal e caracterizado pela expressão XVII de MUC2 e CK20. A média de idade das pacientes com tumores borderline de tipo intestinal sem PMP foi menor que daquelas com PMP. CONCLUSÃO: O subgrupo de tumores mucinosos de ovário de fenótipo gastrointestinal é o mais freqüente, mas é hetetogênio e composto por uma população de células de tipos pilórico e intestinal que diferem entre si em relação ao potencial de malignidade e perfil imunoistoquímico. Os tumores de fenotipo intestinal são mais freqüentemente malignos e borderline. Os tumores ovarianos associados com PMP e provavelmente também a maioria dos tumores borderline de fenótipo intestinal, mesmo sem PMP, devem ser considerados como tumores secundários, quando uma origem em apêndice cecal parece a mais provável.
NTRODUCTION: Primary ovarian neoplasms of mucinous type carry many controversial points regarding their pattern of differentiation, classified as benign, borderline and malignant tumors. They are also classified into different morphological phenotypes, recently called as gastrointestinal and seromucinous. Their heterogeneity has produced not only difficulty into morphological classification and differential diagnostic with metastatic neoplasms, but also on understanding the pathogenesis and immunohistochemical interpretation. The gastrointestinal phenotype has been little explored with respect to possible differences between the gastric and intestinal morphological patterns of differentiation, since the two have generally been analyzed together. The mucinous borderline tumors, thought to be an intermediary stage of mucinous carcinogenesis, were frequently associated with pseudomyxoma peritonei (PMP), which was recently linked to appendiceal mucinous neoplasms. The purpose of the study was to analyze the different morphological patterns of presentation of mucinous ovarian tumors and their association with malignant potential and immunohistochemical profile. MATERIAL AND METHODS: This retrospective study included 72 tumors from 63 patients with pathological diagnosis of presumed primary mucinous ovarian tumor selected from the files of the Division of Surgical Pathology of University of Sao Paulo Medical School, from 1996 to 2005. All slides from the patient cohort were reviewed and classified according to WHO criteria. Immunohistochemical staining for mucin genes products (MUC1, MUC2, MUC5AC and MUC6), ER, PR, CK7, CK20, CA19.9 and CA125 were performed in tissue microarrays. RESULTS: Our results showed 28 benign, 35 borderline and 9 malignant tumors distributed in phenotypes: pyloric (11), intestinal (30), gastrointestinal (20), müllerian (4) and mixed (7) gastrointestinal and müllerian). Six patients had PMP associated. The immunohistochemical study was performed in 67 tumors. The pyloric tumors presented more frequently as benign tumors (72.7%) and had a differential immunohistochemical profile of MUC2 (p= 0.003) and CA19.9 (p= 0.04) when compared with intestinal phenotype. MUC1 was more expressed between tumors with müllerian differentiation (pure or mixed) (100%, p= 0.02) when compared with the others. The hormonal receptors were positive only in müllerian phenotype. Borderline tumors were more frequently of intestinal and gastrointestinal phenotypes (37.1% and 40%), and were associated to PMP in 25% of the cases. All ovarian tumors associated to PMP were of borderline histology and of intestinal type. The profile of intestinal borderline tumors, even in cases without PMP, was distinct from that of other primary mucinous tumors of the intestinal type and characterized by MUC2 and CK20 expression. The median age of patients with intestinal borderline tumors without PMP was lower than those with PMP. XIX CONCLUSION: The gastrointestinal subgroup of mucinous ovarian tumors is the more frequent, but it is heterogeneous and composed of pyloric, and intestinal cell population that differ regarding malignant potential and immunoprofile. The intestinal tumors are more frequently malignant and borderline. Ovarian tumors associated with PMP and probably most intestinal borderline tumors, even without PMP, should be considered as secondary tumor when the appendiceal origin seems the most probable.
Hemophagocytic lymphohistiocytosis or hemophagocytic syndrome is represented by an uncontrolled inflammatory response characterized by marked histiocyte activation and a cytokine storm. The entity ...may present a primary or genetic type, and the secondary type is usually triggered by infectious diseases of any kind, autoimmune disease, or neoplasia. This entity, although well described and with definite diagnostic criteria, still remains misdiagnosed because of the overlap presentation with other inflammatory processes. The authors present the case of a 13-year-old girl who was submitted to an appendicectomy complicated with a pericolic abscess, which required a second operation in order to be drained surgically. During the postoperative period of this second surgical procedure, the patient remained febrile, developing cytopenias, and multiple organ failure. Unfortunately, she died despite the efforts of the intensive care. The autopsy findings were characteristic of hemophagocytic syndrome. The authors report the case to call attention to this diagnosis whenever unexpected outcomes of infections are experienced.
The authors describe a peculiar form of Epstein-Barr virus (EBV)-associated T-cell lymphoma in an HIV-positive patient presenting an aggressive clinical course. Unlike most other EBV-positive ...T-cell/natural-killer (NK)-cell lymphomas, the disease was characterized by predominant nodal involvement at presentation. T-cell lineage was confirmed by T-cell receptor-rearrangement, and neoplastic cells exhibited strong and diffuse CD56 expression. A marked intravascular component was detected in the skin, the liver, and the lung parenchyma. This entity was not predicted in the WHO 2008 classification, but has been recently identified in immunocompromised patients. This case report refers to a middle-aged man with AIDS, who presented a 4-month history of weight loss, fever, hepatosplenomegaly, peripheral and deep-chain lymphadenopathy. A blood smear showed lymphocytosis with a marked presence of atypia. The outcome was unfavorable and the patient could not be treated. The autopsy revealed multivisceral involvement, including lymph nodes, spleen, bone marrow, liver, lungs, skin, and kidneys.
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