1/291. Two separate episodes of hemophagocytic syndrome at a two-year interval in an apparently immunocompetent male. We describe two separate episodes of hemophagocytic syndrome (HPS) at an interval of two years in a seemingly immunocompetent male. This case suggests the possible existence of an inherent predisposition to HPS, in which otherwise negligible self-limited viral infection may trigger HPS. Laboratory data for a 16-year-old boy admitted with persistent high grade fever and severe thrombocytopenia disclosed coagulation abnormality, liver damage, and hypercytokinemia. A bone marrow aspiration revealed a proliferation of histiocytes with fresh hemophagocytosis. We diagnosed that he was suffering from HPS. Responding to steroid pulse therapy, he recovered completely and was discharged. After two years of healthy life, he became febrile again and was readmitted. The fever was refractory to antibiotics and was associated with a sudden drop in platelet count. Laboratory data and the bone marrow picture were consistent with those of HPS. He was again successfully treated with steroid. After the second episode, he has been healthy for more than two years. ( info) |
2/291. Familial ovarian germ cell cancer: report and review. Ovarian germ cell cancers are rare malignancies accounting for less than 5% of all ovarian cancers. We present a family in which three closely related women were diagnosed with ovarian germ cell malignancies. This family's cancer history prompted a family history investigation of women treated for ovarian germ cell malignancies in the Gynecologic-Oncology Clinic at the University of wisconsin. One of the eight patients whose family histories were reviewed had an uncle who had been diagnosed with testicular germ cell cancer. A review found six other previously reported families in which more than one relative had been diagnosed with a malignant ovarian germ cell tumor. Additionally, several cases of families with both males and females diagnosed with germ cell cancers have been documented. The low incidence of ovarian germ cell cancers suggests that multiple occurrences in the same family may not be due to chance. Rather, it is possible that a gene conferring susceptibility to ovarian germ cell cancers, and possibly to germ cell tumors in males as well, is present in at least some of these families. ( info) |
| PURPOSE: To discuss the problems encountered when halothane was detected in a presumed 'clean' patient circuit during the 'trigger-free' anesthetic management of a known malignant hyperthermia Susceptible (MHS) patient for routine orthopedic surgery. CLINICAL FEATURES: A 29-yr-old MHS woman had a wrist arthroscopy/exploration/fusion under general anesthesia. During the course of the 'trigger-free' anesthetic the respiratory gas analyser detected end-tidal halothane in the patient circuit. The patient was disconnected from the circuit as attempts to identify the source of the readings were undertaken. After ruling out the presence of halothane by various clinical manoeuvre the patient was reconnected to the circuit without sequelae. CONCLUSION: By exclusion the problem was presumed to be a factitious reading resulting from the respiratory gas analyser incorrectly identifying patient-expired methane as halothane. ( info) |
| Among patients with enchondromatosis, those with Ollier's disease are usually considered to be at a lower risk for extra-osseous malignancy than those with Maffucci's disease. However, several reports suggest that Ollier's disease may also be associated with gliomas. We report here the youngest patient in the literature (16 years) to be detected with a brain tumor and Ollier's disease. This is also the first case with diffuse brain stem involvement. Thus, counselling of patients with Ollier's disease may become more difficult than initially thought. ( info) |
| A 25-yr-old man, subsequently shown to be malignant hyperthermia (MH) susceptible by in vitro contracture testing, developed MH during anaesthesia for tonsillectomy. Prompt treatment, including dantrolene, led to rapid resolution of the metabolic crisis. Eighteen hours later the patient's trachea was extubated in the ICU, when he had been stable and apyrexial overnight. Twenty minutes after extubation, an episode of shivering was followed by the onset of tachycardia, hypertension, tachypnoea and a rapid increase in temperature. recurrence of MH was suspected and the patient was given another dose of dantrolene with good clinical effect. shivering in this patient may have been an indicator or a causative factor of recurrence of MH. ( info) |
| Oral colonisation with aerobic Gram-negative bacilli (AGNB) is abnormal and usually indicates a medically compromised state in the host. It has been postulated that oral colonisation with AGNB may predispose a patient to serious systemic infection, but proof of this assertion is lacking. This report describes an elderly patient who had oral colonisation of pseudomonas aeruginosa and developed septicaemia from an identical strain of this bacterium. ( info) |
7/291. Leukocyte functions in 2 cases of Papillon-Lefevre syndrome. AIM: To investigate the role of leukocytes in the pathogenesis of Papillon-Lefevre syndrome (PLS). methods: Peripheral blood polymorphonuclear neutrophils (PMNs), monocytes (MNs) and gingival crevicular fluid (GCF) were obtained from 2 cases of PLS with typical features. The chemotaxis of PMNs and MNs were evaluated using a modified Boyden chamber. The adherence of PMNs was determined by adherence of PMNs to petri dishes. interleukin-8 (IL-8) in GCF was detected by sandwich ELISA. Elastase activity in GCF was measured with a low molecular weight substrate (S-2484) specific for granulocyte elastase. RESULTS: PMNs from both patients showed depressed chemotactic response to FMLP and IL-8. Total amounts of IL-8 in GCF from the 2 patients were much higher than those of the normal controls. Elastase activity was not significantly different from that of the controls. The adherence of PMN and the chemotaxis of MN in the 2 patients were normal. CONCLUSION: The depressed chemotactic response of PMN leads to decreased recruitment of PMN and/or release of lysozyme from PMN in the diseased gingival tissue, increasing the susceptibility of PLS patients to periodontal infection. ( info) |
8/291. Generalized essential telangiectasia in a patient with Graves' disease: should the spectrum of autoimmune diseases associated with generalized telangiectasia be expanded? Generalized essential telangiectasia (GET), as originally described, is not associated with any underlying disease. Although patients with GET lack the typical periungual telangiectases associated with autoimmune collagen vascular diseases, these patients may have an underlying autoimmune process. We present a patient with a history of Graves' disease and low-titer anti-nuclear antibodies, who developed rapidly progressive generalized telangiectases. The gender and age of the majority of patients with GET fit well within the demographics of most autoimmune diseases. The documented occurrence of an autoimmune disease in several of the limited number of patients previously diagnosed with GET provides additional evidence that GET may be associated with an underlying autoimmune disease. ( info) |
9/291. Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency. Congenital plasminogen activator inhibitor-1 (PAI-1) deficiency is an extremely rare disorder characterized by a bleeding diathesis that begins in childhood due to hyperfibrinolysis as a result of decreased PAI-1 activity. We now present 4 unrelated pediatric cases of congenital PAI-1 deficiency. All 4 patients had a history of recurrent episodes of subcutaneous bleeding beginning in early childhood. These episodes were characterized by abnormal prolonged bleeding after trauma, tooth extraction, and surgical procedures, as well as by rebleeding following initial hemostasis. The 2 female patients both had symptoms compatible with hypermenorrhea. The family history was positive in 2 of the 4 patients. Hemostatic screening studies in all 4 patients revealed no abnormalities. Testing for factor xiii antigen, von willebrand factor antigen, ristocetin cofactor activity, alpha(2)-plasmin inhibitor (alpha2PI) activity, and plasminogen activity was normal. The euglobulin lysis times were shortened in all cases as compared with those in normal control subjects. None of the patients had elevated tissue plasminogen activator (tPA) antigen levels, but PAI activity was markedly decreased in all cases. Three of the patients also had reduced levels of PAI-1 antigen. There tended to be a reduction in tPA-PAI-1 complex in all cases. In addition, 2 patients had elevated PIC (plasmin-alpha2PI complex). Tourniquet tests were performed in 2 patients, with no appreciable rise in PAI-1 activity or PAI-1 antigen levels. The administration of tranexamic acid clearly improved hemorrhagic symptoms in these patients. We considered PAI-1 deficiency to be the likely etiology of the congenital bleeding diatheses in these 4 cases. ( info) |
| FIRST REPORT: male child with repeated pulmonary infections from the age of 4 months. He was diagnosed as iga deficiency (undetectable IgA levels) at the age of 3 years, when he presented repeated bouts of pneumonia and tonsillitis. Several immunologic evaluations were made between the ages of 4 months and 8 years. At 8 years and 9 months, the diagnosis of iga deficiency was confirmed, and associated IgG2 and IgG4 deficiency (29.0 mg/dl y 0.01 mg/dl) with normal total IgG serum level was found. With the administration of intravenous gammaglobulin, the lung infections remitted and the subsequent clinical course has been uneventful up to now. SECOND REPORT: a boy with repeated infections since the age of 2 months. iga deficiency was diagnosed at 1 year 7 months (undetectable serum IgA levels). At age 51/2 years, his clinical course worsened and more serious infections appeared. A new immunologic study revealed iga deficiency associated with CD4 cell deficiency (432 cells/mm3) and normal CD3, CD19, and CD8 levels. Despite intensive antibiotic treatment and care, the child died. The findings suggest an association of iga deficiency and common variable immunodeficiency. ( info) |