RESUMO
We report a case of gastric sarcoidosis in a 36-year old woman. The clinical and endoscopic ultrasonography findings initially suggested linitis plastica. Subsequently the discovery of unexpected gastric and then, bronchial granulomas after bronchoscopy and bilateral ocular fixation on gallium scanning, led to the diagnosis of sarcoidosis. Endoscopic ultrasonography showed abnormal hypertrophy of the third hyperechoic layer. These findings usually suggest among the etiologies of giant gastric folds, malignant diseases and particularly linitis plastica.
Assuntos
Sarcoidose/diagnóstico , Gastropatias/diagnóstico , Adulto , Feminino , Gastroscopia , Humanos , Sarcoidose/diagnóstico por imagem , Gastropatias/diagnóstico por imagem , UltrassonografiaRESUMO
Ultrastructural and immunohistochemical studies were made of the testicular interstitial tissue from eight human fetuses of 15 to 27 weeks gestation. Three cell types developed in mesenchymal cells: Leydig cells and peritubular cells, as already reported, and cells of the mononuclear phagocyte system (MPS), which are located in the intermediate area of the interstitial tissue. Located at the periphery of Leydig cells, these gradually differentiate between 16 and 20 weeks and later acquire the ultrastructural characteristic of histiocytes during the involution phase of the fetal testis. Immunohistochemical studies using monoclonal antibodies (Mo Ab) to antigens of human myelomonocytic cells isolated a cell subpopulation in the interstitial tissue that is distinct from the peritubular (fibroblastic) and the Leydig cells. This subpopulation expressed all or some of these antigens according to their stage of differentiation; all cells are labelled by MY7 Mo Ab which is directed against myelomonocytic cells, including stem cell. Using monoclonal antibodies directed against more mature cells (MY4, MO1 and MO2), the number of labelled cells decreased in this mesenchymal population. MY4 Mo Ab, which detect myelomonocytic cells excluding stem cell, label fewer than MY7 Mo Ab. MO1 MO Ab and MO2 Mo Ab, respectively, directed against antigens of more mature or mature monocytic cells, label less number of mesenchymal cells, which are histiocytes after 20 weeks. These ultrastructural and immunohistochemical findings suggest that cells of the MPS differentiate within the interstitium.
Assuntos
Feto/anatomia & histologia , Células Intersticiais do Testículo/ultraestrutura , Fagócitos/ultraestrutura , Testículo/citologia , Anticorpos Monoclonais/análise , Antígenos de Diferenciação/análise , Diferenciação Celular , Humanos , Células Intersticiais do Testículo/imunologia , Masculino , Microscopia Eletrônica , Fagócitos/imunologia , Testículo/imunologia , Testículo/ultraestruturaRESUMO
The authors report a case of Schwartz-Jampel syndrome (osteo-chondro muscular dystrophy with myotonia). The diagnosis was made when the child was 3 1/2 year old. Then, there were no clinical symptoms; however, the electromyographic and histologic patterns of the disease were found. Two years later, the clinical status provided confirmation of the diagnosis. The discussion focuses on the difficulty of the diagnosis and the relevance of electrophysiological studies and muscular biopsy in order to distinguish this disease from others with similar clinical pattern (as Freeman-Sheldon, or Marden Walker syndromes).
Assuntos
Músculos/patologia , Osteocondrodisplasias/diagnóstico , Pré-Escolar , Eletromiografia , Humanos , Masculino , Osteocondrodisplasias/patologia , Osteocondrodisplasias/fisiopatologiaRESUMO
A case of Tangier disease with results of histological and ultrastructural studies is reported. The clinical, biological and histological picture was typical, with enlarged liver and spleen, voluminous tonsils, low blood levels of alpha-lipoproteins and cholesterol and high blood levels of triglycerides. The histological study revealed widespread tissue storage of cholesterol esters in the Mononuclear Phagocyte System. Lipid deposits were located in foamy histiocytes by staining with lipid-specific stains. The ultrastructural study revealed intracytoplasmic vacuoles unbounded by membranes and often confluent. Unlike other previously described cases, this one had a rapid fatal outcome.
Assuntos
Medula Óssea/patologia , Hipolipoproteinemias/patologia , Mucosa Intestinal/patologia , Fígado/patologia , Baço/patologia , Doença de Tangier/patologia , Adolescente , Humanos , Células de Kupffer/ultraestrutura , Lipídeos/sangue , Lipoproteínas/sangue , Fígado/ultraestrutura , Masculino , Reto , Baço/ultraestrutura , Doença de Tangier/sangueRESUMO
The authors report the results of 221 post-mortem examinations of fetuses, newborns, and infants performed during 26 months and theirs involvements in genetic counselling. 10,8% of these cases are provided by therapeutic terminations of pregnancy; necropsy confirmed the diagnosis afforded except for maternal infectious diseases contracted during pregnancy in which post-mortem examination revealed generally no abnormality. Genetic diseases represented 33,7%: in these cases anatomic examination took variable role, it is more important in multivisceral malformative syndromes, sudden death of infancy, and histologically prominent feature diseases. In 38,5% of cases, medical acquired disease were found; it elucidated cause of death and generally permitted to carry out favourable genetic counselling. At least 17,1% of cases stayed unexplained after necropsy.
Assuntos
Morte Fetal/patologia , Aconselhamento Genético , Doenças do Recém-Nascido/patologia , Autopsia , Feminino , Morte Fetal/genética , Doenças Fetais/diagnóstico , Humanos , Recém-Nascido , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/mortalidade , Gravidez , Diagnóstico Pré-Natal , Estudos RetrospectivosRESUMO
Rectal tumors are rare in childhood. The description of both hamartomatous inverted polyps of the rectum and polymalformative syndrome in the same adolescent, gives the opportunity to remind the manifestations of this unusual tumor and to bring an additional argument to the Schannon Allen's malformative theory.