Sarcoidose como diagnóstico diferencial de mieloma múltiplo / Sarcoidosis as a differential diagnosis of multiple myeloma

A sarcoidose caracteriza-se como doença granulomatosa que acomete diferentes órgãos humanos, especialmente os pulmões, sendo sua patogênese pouco conhecida. No caso em questão, a paciente iniciou com sintomas inespecíficos, como fraqueza, perda ponderal e tosse seca esporádica, sendo internada para extensão da propedêutica. Sugeriu-se como hipótese diagnóstica inicial possível quadro de mieloma múltiplo, tendo em vista a anemia, a disfunção renal, a hipercalcemia e, sobretudo, as lesões osteolíticas apresentadas pela paciente. Todavia, o diagnóstico de sarcoidose foi selado a partir das biópsias de medula óssea e de linfonodo inguinal, que evidenciaram mielite e linfadenite granulomatosas, respectivamente. A terapêutica instituída baseou-se na administração de corticosteroides e em medidas de redução da calcemia. A paciente recebeu alta, com melhora do quadro clínico, para acompanhamento ambulatorial da doença. Conclui-se que a sarcoidose não possui tratamento curativo, mas a terapêutica imunossupressora é eficaz no controle da progressão da enfermidade, fazendo com que o paciente tenha um prognóstico favorável.

Sarcoidosis is characterized as a granulomatous disease that affects different human organs, especially the lungs, and its pathogenesis is little known. In this case, the patient started with nonspecific symptoms, such as weakness, weight loss, and sporadic dry cough, being hospitalized for extension of the propaedeutics. The initial diagnostic hypothesis suggested was a possible case of multiple myeloma, based on the anemia, renal dysfunction, hypercalcemia and, above all, the osteolytic lesions presented by the patient. However, the diagnosis of sarcoidosis was made after bone marrow and inguinal lymph node biopsies that showed granulomatous myelitis and lymphadenitis, respectively. The therapy instituted was based on the administration of corticosteroids and on measures to reduce the level of calcium. The patient was discharged, with clinical improvement, for outpatient follow-up of the disease. It is concluded that sarcoidosis has no curative treatment, but immunosuppressive therapy is effective in controlling the progression of the disease, giving the patient a favorable prognosis.

An unusual presentation of gastric diverticulum: a rare form of diverticulum of the gastrointestinal tract

Report of two cases of gastric diverticulum (GD) documented by upper gastrointestinal contrast radiographic studies and computed tomography (CT).

Cryptococcoma mimicking a brain tumor in an immunocompetent patient: case report of an extremely rare presentation

ABSTRACT CONTEXT: Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. Case Report: A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. CONCLUSIONS: Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.

Locoregional recurrence of Frantz' tumor: a case report and review of the literature

SUMMARY Frantz' tumours or solid pseudopapillary tumours of the pancreas are rare neoplasms with low malignant potential. Young women in the second to third decades of life are more frequently affected. The treatment of choice is resection of the lesion, which is often curative. The recurrence is uncommon when radical surgical resection is used. Radiological characteristics are important for the correct diagnosis, since the preoperative planning is fundamental to obtain the cure. The objective of this study is to report a rare case of locoregional recurrence and to review the radiological findings of solid pseudopapillary tumours of the pancreas in the literature, as well to know the incidence and risk factors of tumor recurrence. This case report is from a 37-year-old female patient evaluated at an Oncologic Hospital, in the city of São Paulo, Brazil, who presented an uncommon evolution of the disease, characterized by local recurrence despite the complete resection of the primary lesion with free margins.

RESUMO Os tumores de Frantz ou tumores pseudopapilares sólidos do pâncreas são neoplasias raras, que apresentam baixo potencial maligno. A maioria acomete mulheres jovens na segunda a terceira década de vida. O tratamento de escolha é a ressecção da lesão, uma vez que é frequentemente curativa. A recidiva é incomum quando é empregada ressecção cirúrgica completa. As características radiológicas são importantes para a hipótese diagnóstica, uma vez que o planejamento pré-operatório é fundamental para a obtenção da cura. O presente estudo tem como objetivo relatar um caso raro de recidiva locorregional e rever na literatura os achados radiológicos dos tumores pseudopapilares sólidos do pâncreas, assim como conhecer a incidência e os fatores de risco da recorrência tumoral. Este relato de caso é de uma paciente do sexo feminino, de 37 anos, avaliada em um hospital de referência oncológica, na cidade de São Paulo, Brasil, que apresentou uma evolução incomum da doença, caracterizada pela recorrência locorregional, apesar da ressecção da lesão primária com margens livres.

Peliosis hepatis and systemic lupus erythematosus: A rare condition identified by magnetic resonance imaging / Peliose hepática e lúpus eritematoso sistêmico: uma rara condição identificada pela ressonância nuclear magnética

Summary Peliosis hepatis is a rare benign disorder characterized by the presence of multiple cavities filled with blood with no preferential localization in the liver parenchyma. It may be related to several etiologic conditions, especially infections and toxicity of immunosuppressive drugs. To our knowledge, there are only three articles reporting the association between peliosis hepatis and systemic lupus erythematosus. In this report, we describe a case of this rare condition, highlighting the importance of magnetic resonance imaging. A short review of this subject is also presented.

Resumo Peliose hepática é uma patologia benigna rara caracterizada pela presença de múltiplas cavidades preenchidas por sangue sem localização preferencial no parênquima do fígado. Pode estar relacionada a uma série de condições etiológicas, dentre elas doenças infecciosas e toxicidade por drogas imunossupressoras. Para nosso conhecimento, existem apenas três artigos que abordam a associação entre peliose hepática e lúpus eritematoso sistêmico. Neste relato, descrevemos um caso desta rara condição, destacando a importância da ressonância magnética. Uma breve revisão sobre o tema é apresentada.

Superficial siderosis of the central nervous system is a rare and possibly underdiagnosed disorder / Siderose superficial do sistema nervoso central é uma doença rara e possivelmente subdiagnosticada

ABSTRACT Superficial siderosis (SS) of the central nervous system (CNS) is a rare and possibly underdiagnosed disorder resulting from chronic or intermittent bleeding into the subarachnoid space, leading to deposition of blood products in the subpial layers of the meninges. Magnetic resonance imaging (MRI) shows a characteristic curvilinear pattern of hypointensity on its blood-sensitive sequences. Methods Series of cases collected from Brazilian centers. Results We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion SS-CNS is a rare disease that may remain undiagnosed for long periods. Awareness of this condition is essential for the clinician.

RESUMO Siderose superficial (SS) do sistema nervoso central (SNC) é uma doença rara e provavelmente subdiagnosticada, resultante de sangramento crônico no espaço subaracnóide, levando ao depósito de produtos sanguíneos nas camadas meníngeas subpiais. Ressonância magnética (RM) mostra um padrão curvilíneo característico com hipointensidade nas suas sequências sensíveis a sangue. Métodos Série de casos coletados de centros brasileiros. Resultados Apresentamos 13 casos de pacientes com história progressiva de disfunção neurológica causada por SS-SNC. Os achados clínicos mais frequentes destes pacientes foram ataxia progressiva da marcha, perda auditiva, hiperreflexia e disfunção cognitiva. O diagnóstico de SS-SNC foi firmado de sete meses a 30 anos após o início da doença. Conclusão SS-SNC é uma condição rara que pode permanecer sem diagnóstico por longos períodos. O conhecimento desta entidade é essencial ao clínico.

Bullous systemic lupus erythematosus in a 10-year-old child

Abstract: Bullous systemic lupus erythematosus (BSLE) is a rare autoimmune subepidermal blistering disease, with few cases described in childhood. It has different clinical-pathological features. We report a case of BSLE in a 10-year-old child with systemic lupus erythematosus, treated with prednisone and hydroxychloroquine. There was complete remission with dapsone, with no recurrence of skin lesions throughout one year of follow-up. We highlight the rarity and early age of occurrence.

Diagnóstico prenatal y manejo perinatal en enfermedades raras / Prenatal diagnosis and management of rare diseases

El diagnóstico y manejo prenatal de enfermedades raras involucra un estudio multidisciplinario. Desde una visión obstétrica, herramientas de imagenología como la ultrasonografía y en menor medida la resonancia magnética fetal (RMF) son esenciales para el diagnóstico de anomalías morfológicas y sospecha de defectos cromosómicos. Para el diagnóstico de enfermedades cromosómicas el estudio de cariograma obtenido de vellosidades coriales, líquido amniótico o sangre fetal mediante técnicas invasivas tal como biopsia corial, amniocentesis o cordocentesis ha sido hasta hace poco el gold standard del diagnóstico. Nuevas técnicas moleculares capaces de detectar microdeleciones como es el microarray nos ha permitido aproximarnos al origen de las enfermedades raras. Se revisarán además algunos de los defectos anatómicos raros y su enfoque neonatal.

Prenatal diagnosis and management of rare diseases is a multidisciplinary task. From the obstetric vision, prenatal diagnosis is based on fetal images obtained by ultrasound or magnetic resonance and fetal chromosomes study. The study of fetal morphology allows us the diagnosis of fetal abnormalities and the suspicion of chromosomal defects. Fetal chromosomal study is obtained either by chorionic villus sampling, amniocentesis and cordocentesis, all associated to fetal risk. New screening techniques such as fetal DNA on maternal blood or the study of fetal micro deletions using micro Array on amniotic fluid has extended diagnostic opportunity of rare fetal diseases. We will review some of the most common rare diseases and the neonatal approach.

Syndrome in question

Abstract The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.

Spontaneous Intramural Full-Length Dissection of Esophagus Treated with Surgical Intervention: Multidetector CT Diagnosis with Multiplanar Reformations and Virtual Endoscopic Display

Intramural esophageal dissection (IED) is an uncommon disorder characterized by separation of the mucosal and submucosal layers of the esophagus. Iatrogenic intervention is the most common cause of IED, but spontaneous dissection is rare. We report an unusually complicated case of spontaneous IED that involved the full-length of the esophagus that necessitated surgical intervention due to infection of the false lumen. In this case, chest computed tomography successfully established the diagnosis and aided in pre-operative evaluation with the use of various image post-processing techniques.

Divertículo gigante de colon: presentación de un caso / Giant Divertículo of colon. Presentation of a case

El divertículo gigante de colon es una enfermedad rara que ocurre como complicación de la diverticulosis colónica, principalmente sigmoidea. Se presenta el caso de una paciente de 84 años tratada en el servicio de Cirugía General del Hospital Hermanos Ameijeiras en marzo de 2006 por presentar un divertículo gigante del colon sigmoides. La radiografía simple de abdomen, el colon por enema, el tránsito intestinal y la tomografía axial computadorizada demostraron la lesión quística llena de aire con nivel hidroaéreo. La intervención comprendió la resección segmentaria de colon en bloque con el divertículo. El período posoperatorio transcurrió sin ninguna complicación y la paciente se encuentra asintomática al momento de redactar este artículo(AU)

The giant divertículo of colon is a strange illness that happens as complication of the colonic diverticulosis, mainly sigmoidea. The case of a 84 year-old patient is presented tried in the service of General Surgery of the Hospital Siblings Ameijeiras in March of 2006 to present a giant divertículo of the colon sigmoides. The simple x-ray of abdomen, the colon for enema, the intestinal traffic and the tomografía axial computadorizada demonstrated the cystic lesion full with air with level hidroaéreo. The intervention understood the segmental resection of colon in block with the divertículo. The period posoperatorio lapsed without any complication and the patient is asintomática to the moment to edit this article(AU)