Two cases of severe lethal Smith-Lemli-Opitz syndrome.
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Biomedical subjects
Publications and source records attributed to E Hawkins.
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Primary mediastinal endodermal sinus tumor is rare, and to date only 49 cases have been described in the English-language literature. Seven new cases are reported. Light microscopic examination showed characteristic features including papillary, reticular, tubular and solid growth patterns, complete or incomplete Schiller-Duval bodies and intracellular or extracellular periodic acid-Schiff-positive material. Immunohistochemical studies showed alpha-1-antitrypsin in seven, alpha-fetoprotein in seven, keratin in six, and carcinoembryonic antigen in four cases. The beta subunit of human chorionic gonadotropin, albumin, fibronectin, and transferrin were not found in any case. Electron microscopic studies performed in four cases showed intracellular and extracellular basement membrane-like material, multiple large multivesicular bodies, desmosomes and microvilli. Mediastinal endodermal sinus tumor can and must be differentiated from poorly differentiated adenocarcinoma metastatic or extending to the mediastinum because of the distinctly different prognoses and therapies. In spite of modern chemotherapy, the prognosis of mediastinal endodermal sinus tumor remains poor. The single most important prognostic indicator is whether the tumor mass can be completely excised before or after chemotherapy.
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The incidence and significance of isolation of Haemophilus species from urine specimens was determined at a pediatric referral center. The incidence was 0.27%, and half the isolates were pathogens. Evaluation of incidence and a cost analysis led to the conclusion that routine efforts to isolate Haemophilus from urine are not cost-effective.
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A case of congenital generalized fibromatosis in a black male infant with involvement of lungs, subcutaneous tissue, pancreas, adrenal, lymph nodes, and bone is described. Fifteen prior cases with pulmonary involvement are reviewed, emphasizing the poor prognosis associated with pulmonary lesions. This case demonstrated, in addition to previously described histologic features, broad bands of fibroblastic proliferation in the interlobular septa producing retraction of the visceral pleura. Possible etiologic factors are discussed, with suggestions for additional studies in future cases.
Immune deficiency, especially to the Epstein-Barr virus, and increased susceptibility to fatal infectious mononucleosis, acquired agammoglobulinemia, and lymphoma are the cardinal features of the X-linked lymphoproliferative syndrome. Since the establishment of the XLP Registry in September, 1978, 59 affected males in seven unrelated kindreds were comprehensively studied. A spectrum of lymphoproliferative phenotypes was observed. Thirty-four patients (57%) died from infectious mononucleosis, eight (14%) had fatal infectious mononucleosis with lymphoma (immunoblastic sarcoma), nine (15%) had depressed immunity following EBV infection, and eight (14%) developed lymphoma. Several patients with XLP lacked EBV antibodies despite infection by EBV. The results of this study suggest that EBV can be an oncogenic agent in patients who are immune deficient with XLP.
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The morphologies of the adrenal cortical zones of 25 children with cystic fibrosis and 24 control patients are presented. A technic for objective measurement of these zones is described. Hyperplasia of the zona glomerulosa in the children with cystic fibrosis is significant and may be related to chronic loss of salt in the sweat or demands placed on renal salt-conserving mechanisms.
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To determine how much blood must be discarded before one can obtain a reliable central venous catheter blood culture, we prospectively cultured the blood (from 96 patients) that is ordinarily discarded before obtaining blood for such a culture. We then compared the prospective culture results with those of the actual blood culture. Three sequentially drawn aliquots of blood were aspirated from the central venous catheter and cultured. The culture results of the second aliquot were comparable to those of the third (the portion usually cultured) in overall sensitivity (94.4%), specificity (94.9%), and positive predictive value (80.9%). Thus, the amount of blood that must be discarded (infants: 0.3 mL; children: 1.0 mL) before one can obtain an accurate central venous catheter culture is less than was previously thought.