Fetal hemoglobin levels in SIDS.
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Fetal Hemoglobin↗
Biomedical subjects
E F Gilbert
Publications and source records attributed to E F Gilbert.
Neonatal intracranial choriocarcinoma.
A 1-month-old infant died from extensive intracerebral hemorrhage due to a metastatic choriocarcinoma to the brain that presumably originated in the placenta. The clinical course was characterized by hyperbilirubinemia, repeated episodes of seizures, and intracranial hemorrhage. A computed tomographic scan revealed a large vascular mass in the left parieto-occipital region and a small lesion in the left frontal lobe. The placenta was expelled during the delivery and was not examined. In view of the high level of maternal human chorionic gonadotropic hormone and the autopsy finding of metastasis, we presumed that the mass was a metastatic choriocarcinoma that had originated in the maternal placenta. To our knowledge, only one previous instance of this phenomenon has been reported.
Brain Neoplasms↗
Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome.
A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect. The parachute mitral valve was funnel-shaped with a moderately-thick cone of fibrous tissue around the annulus and an eccentric orifice. Many forms of congenital cardiac defects have been described in the 18 trisomy syndrome. However, parachute mitral valve has not, to our knowledge, been part of the spectrum of cardiac defects in trisomy 18. Other anomalies were absent radii, omphalocele, and cleft palate and cleft lip; these have been observed previously in the 18 trisomy syndrome.
Abnormalities, Multiple↗
Acetylsalicylic acid-induced morphological changes in the ductus arteriosus of the chick embryo.
The effect of acetylsalicyclic acid upon the ducti arteriosi of the embryonic chick was studied. A spectrum of gross malformations and histological findings associated with premature closure of the right ductus arteriosus is presented.
Abnormalities, Drug-Induced↗
Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease.
We describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver-leaden colored hair, abnormal melanosomes and melanocytes, and abnormal inclusion bodies in fibroblasts, bone marrow histiocytes and lymphocytes which appear to represent abnormal lysosomal bodies. Because of the biochemical relationships between melanin-melanosomes and neuromelanin, we think that all the manifestations of the condition are related to and represent pleiotropic effects of a newly identified gene in man in its homozygous state. Biochemical reactions of the cells of these patients indicate presence of tyrosinase in the melanosomes.and show that the substance accumulated in cultured fibroblasts and in the bone marrow histiocytes is a PAS and Oil-red-O positive material but is Oil-red-O negative after extraction; it has the typical reactions of melanin withe the Masson and Fontana stain, but cannot be considered typical melanin, since without stain it is colorless. The ultrastructural studies showed round granules with variable matrix, similar in fibroblast and bone marrow, and with variable intensity of reaction to osmium. This mutation principally affects the neuroectoderm, but also the mesoderm.
Child, Preschool↗
The Johanson-Blizzard syndrome: case report and autopsy findings.
We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.
Abnormalities, Multiple↗
Teratomas in children and young adults.
A review of all teratomas seen at the University of Wisconsin Hospital between 1965 and 1977 revealed that sacrococcygeal and presacral teratomas were most common. In these cases survival was best in infants less than one year old, with the exception of two cases of malignant medulloepithelioma. Testicular teratomas were predominant in the young adult male, and survival was poor. Pathology and treatment of teratomas are discussed, with an accompanying discussion of congenital anomalies associated with teratomas.
Adolescent↗
Malignant transformation of polyostotic fibrous dysplasia.
We have described an unusual case of polyostotic fibrous dysplasia in a 25-year-old white woman who had malignant transformation into a mesenchymal tumor with widespread metastases and features of rhabdomyosarcoma. Masculinization also occurred with high plasma testosterone levels. A mechanism for the development of masculinizing features is discussed.
Adult↗
Angiosarcoma complicating generalized lymphangiectasia.
Multifocal angiosarcoma of the lower extremities developed in a 23-year-old patient with generalized lymphangiectasia. Eighteen cases of angiosarcoma complicating congenital or idiopathic lymphedema have previously been reported. The ages of the patients ranged from 13 to 65 years, with an average age of 40 years. There was an equal sex ratio. The extremities were the principal sites of involvement. No conclusion can be made regarding blood vessel or lymphatic origin of these tumors.
Adult↗
Angiosarcoma of the spleen: a report of two cases and review of the literature.
Results of the ultrastructural study of one of two cases of splenic angiosarcoma established the blood vessel origin of this tumor. Fifty-three previously reported cases were reviewed. None of the 55 patients had a history of exposure to thorium dioxide, vinyl chloride, or arsenic, which are known to be associated with hepatic angiosarcoma and other tumors. A comparison of the splenic and hepatic angiosarcomas showed that tumors not associated with exogenous material frequently involve the spleen and liver simultaneously, and that tumors associated with thorium dioxide, vinyl chloride, or arsenic commonly involve the liver with sparing of the spleen.
Adult↗
Myocardial infarct in a child with systemic lupus erythematosus.
An unusual case of systemic lupus erythematosus (SLE) in a young child is reported with sudden death from myocardial infarction. The diagnosis of lupus erythematosus in this patient was made by renal biopsy at the age of 3 years. Atherosclerosis of the coronary arteries and aorta was found at autopsy with occlusion of the anterior descending branch of the left coronary artery. It is suggested that the vascular changes in this case were related to hypertriglyceridemia and prolonged prednisone therapy superimposed on a hypersensitivity vasculitis related to SLE.
Child, Preschool↗
An unusual dysplasia-malformation-cancer syndrome in two patients.
We report two patients with a similar syndrome of gross malformation of a lower limb and contiguous structures due to involvement with dysplastic, teratomatous tissue. This dysplasia seems to have arisen in a paramedian position in the embryonic hindquarter at the time of lower limb-bud differentiation. Malignant degeneration at 5--7 months led to metastases and death in both cases around 1 year of age. The behavior of the dysplastic/oncoplastic tissue suggests a 2-"mutational" causal model. This is an apparently previously undescribed formal genesis syndrome.
Female↗
Aortic aneurysm associated with cardiac defects in theophyline stimulated chick embryos.
Theophylline(1 ml 0.02 M in 0.15 M saline) was administered to embryonic chicks (Hamburger-Hamilton developmental stages 24.27). The drug was topically applied to the surface of the chorioallantoic membrane in the vicinity of the embryonic heart. At necropsy, 63% (44/70) of the theophylline-exposed embryos demonstrated an aneurysm in the ascending aorta. Among the cases exhibiting aortic aneurysm, 48% (21/44) of the embryos demonstrated ventricular septal defects. Four cases of truncus arteriosus were also observed. The morphogenesis and mechanism of theophylline-induced cardiac defects with accompanying aortic aneurysm may be related to the development of the conotruncal region of the heart.
Animals↗
Postoperative hepatic dysfunction.
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Female↗
Clinical and extraneural histologic diagnosis of neuronal ceroidlipofuscinosis.
Neuronal ceroid-lipofuscinosis is manifested by visual and intellectual deterioration and seizures. Autofluorescent lipopigments are found in neural and many nonneural tissues, with characteristic staining and ultrastructural properties. Presumptive diagnosis can usually be made on the basis of history, physical examination, and electrodiagnostic tests, but in the absence of a specific biochemical defect, histologic confirmation is essential. A 6-year-old boy with the clinical appearance of the juvenile form of the disease had sea-blue histiocytes in the bone marrow, and curvilinear profiles in ultrastructural inclusions in skin biopsy tissue, cultured skin fibroblasts, and bone marrow cells.
Ceroid↗
Pediatric necropsies by general pathologists.
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Adolescent↗
Hematological and biochemical paraneoplastic disorders.
Paraneoplastic disorders (PNDs) are remote effects of tumors that are unrelated to the size, location, metastases, or physiological activities of mature tissue of origin. Some of these disorders, such as fever and anemia, have been known for a long time. Other disorders, such as lymphopenia and low serum cholesterol levels, have been described only recently. In a study of 900 patients, including two control groups, some of the PNDs were demonstrated to be good indicators for diagnosis and prognosis in cases of cancer. A number of these disorders, however, may occur in patients suffering from terminal diseases other than cancer.
Adult↗
Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome.
A 15 year old boy with the Fanconi malformation-aplastic anemia syndrome developed erythroleukemia and died of multiple arterial thromboses and hemorrhage. He was one of 10 siblings including 3 affected sisters. He was short of stature and had hypoplastic thumbs; his testes were small and secondary sexual characteristics were inadequately developed. At autopsy he was found to have very few spermatogonia, i.e., a histological picture compatible with the "Sertoli-cell-only" defect. Male hypogonadism in other chromosome breakage syndromes (the Bloom syndrome and ataxia telangiectasia) may have a similar pathogenesis.
Adolescent↗