An autopsy case of Cornelia de Lange syndrome with intracranial germinoma is reported. Clinically, the patient was diagnosed as having this syndrome at one year of age, she was found to be suffering from diabetes insipidus at 18 years of age and soon she had an accidental death.
The autopsy disclosed that the tumor grew from the hypothalamus to the optic nerve and the posterior lobe of the hypophysis. Microscopically, this tumor was a germinoma with a “two cell pattern”. On the other hand, examination by peroxidase‐antiperoxidase complex (PAP) method of the anterior lobe of the hypophysis demonstrated that thyroid‐stimulating hormone (TSH) and follicle‐stimulating hormone (FSH) producing cells had decreased.
Lung tissue of a worker in an abrasive manufacturing plant, whose duration of dust exposure was about 10 years, was analyzed by means of bulk analysis and in situ analytical electron microanalysis. The content of the total dust in the lung was 120 mg/g of the dried lung tissue. This value is close to the average concentration of the total dust in the lungs of coal miners with massive fibrosis. The lung dust composition in this case was approximately 43% silicon carbide, 24% aluminium oxide, 2.3% cristobalite, 2.0% quartz, and trace of talc and feldspar. Silicon carbide may be one of the major etiologic agents in this case of pneumoconiosis.
A case of systemic light chain deposition disease in a 48‐year‐old man is presented. Clinically, the patient showed the signs of multiple organ (liver, heart and kidney) failure, but multiple myeloma was not diagnosed. Autopsy revealed generalized deposition of hyaline, a Congo red‐negative substance, especially in the arterial walls of various organs. In the bone marrow, myelomatous proliferations of plasma cells positive for kappa light chain were recognized. The deposited substance was ultrastructurally different from amyloid fibrils, and was identified as kappa light chain by immunohistochemistry. A liver tissue extract was immunobiochemically examined and the deposited substance was confirmed to consist of kappa light chain, its molecular weight being approximately 14,000 to 17,000 Da.
Ten autopsy cases of congenital cystic kidneys were studied by histopathological examination. Eight cases with dysplastic type revealed immature mesoderm, cartilage, localized tight fibrous tissue, hemangiomatous lesion consisting of arterlo‐capillary‐venous elements, extramedullary hematopoiesis, primitive lymph nodes, adipose tissue, and abundant neural tissue in the kidney as well as cystic lesions. These findings strongly suggest that congenital cystic kidneys of dysplastic type are derived from hamartoma or hamartomatous changes chiefly consisting of mesodermal tissue, most of which corresponds to tissue anomaly and is very close to the aberrant form of Wilms’tumor. The presence of focal fibrosis and lymphoid cell infiltration forming focal renal tissue destruction suggest local disturbance of tissue dmerentiation due to some causal elements. As common feature of this type, it is revealed that the babies show lower weights for their fetal ages and die shortly after birth or are delivered as still birth due to hypoplasia and atelectasis of the pulmonary tissue.
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