1/37. Gingival bleeding, epistaxis and haematoma three days after gastroenteritis: the haemorrhagic lupus anticoagulant syndrome.A 3 year and 9 month-old girl presented with gingival bleeding, epistaxis, and multiple haematomas 3 days after an acute episode of gastroenteritis. prothrombin time and activated partial thromboplastin time were prolonged with reduced clotting activity of factor II (< 10%), VIII (<1%), IX (3%), XII (10%) and evidence of a high titre inhibitor. Prothrombin (factor II) level was below the detection limit, both in a functional and immunological assay. It did not increase after administration of vitamin k or fresh frozen plasma. Further studies revealed presence of a strong lupus anticoagulant and a specific IgG antibody against prothrombin. factor viii antigen levels also were reduced (31%), but to a lesser extent than functionally determined factor viii (<1%). blood coagulation normalised following clinical recovery 6 weeks after admission. The pathophysiology of this acquired inhibitor phenomenon (accelerated clearance of complexes of clotting factors and phospholipids) is discussed. CONCLUSION: The haemorrhagic lupus anticoagulant syndrome (acquired hypoprothrombinaemia lupus anticoagulant syndrome) is a rare presentation of acquired bleeding diathesis in childhood. Since most cases in post-infectious children are asymptomatic, it might be underdiagnosed. In children with newly appearing bleeding symptoms or unclear prolonged prothrombin time or activated partial thromboplastin time, one has to consider this syndrome which could lead to relevant bleeding.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
2/37. Anaesthetic management of splenectomy in Evan's syndrome during pregnancy with pregnancy induced hypertension.The management of idiopathic thrombocytopenic purpura (ITP) during pregnancy, especially with ongoing bleeding diathesis, has not been highlighted sufficiently in the literature. Aortocaval compression and reduction in uteroplacental circulation resulting in foetal hypoxia and acidosis, Mendelson's syndrome due to gravid uterus, trauma to airway with resultant haemorrhage and aspiration into lungs, compromised airway due to short neck, anasarca and heavy breast, limitation in using invasive monitoring and regional anaesthesia and uncontrolled bleeding leading to placental hypoperfusion and foetal hypoxia are some of the important risks. In the present case report, anaesthetic management for splenectomy during pregnancy complicated with pregnancy induced hypertension and bleeding diathesis secondary to ITP is described with reference to above risks.- - - - - - - - - - ranking = 2keywords = diathesis (Clic here for more details about this article) |
3/37. Hyperviscosity syndrome in rheumatoid arthritis with Felty's syndrome: case report and review of the literature.Hyperviscosity syndrome (HVS) is characterised by high serum viscosity and the involvement of multiple organs, commonly causing retinal haemorrhage, bleeding diathesis, pulmonary hypertension, congestive heart failure (CHF), neurologic deficits and death. It has been reported that HVS is mostly encountered in Waldenstrom's macroglobulinaemia (80%-90% of all HVS cases) and occasionally in multiple myeloma. HVS in patients with connective tissue diseases (CTD) has rarely been reported. Of 28 cases of HVS reported in patients with CTD, 19 were with seropositive rheumatoid arthritis (RA). However, only six of these 19 cases had Felty's syndrome. Here we report another case of HVS in a patient with RA as well as Felty's syndrome.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
4/37. Sebastian syndrome: report of the first case in a South American family.The Sebastian syndrome (SS) is a MYH9-related disorders, which are an extremely infrequent group of four autosomal dominant illnesses. SS consist of giant platelets, leukocyte inclusions and thrombocytopenia. To our knowledge, there are no case reports of this syndrome in south america. The propositus was a 35-year-old Argentine woman with a history of purpuric lesions in her lower limbs and thrombocytopenia. Idiopathic thrombocytopenia purpura (ITP) was previously diagnosed, but she did not respond to treatment with steroids. family history failed to provide any evidence of hearing loss, easy bruising, nephritis, renal failure or cataracts. The patient and 11 members of her family were evaluated. The diagnosis of SS was established by demonstrating giant platelets, thrombocytopenia and leukocyte inclusions in peripheral smear in two relatives and by peripheral smear and electronic microscopy in the propositus. MYH9-related disorders should be suspected whenever a patient has a low platelet count or a bleeding diathesis of unknown origin. In these cases, the history, carefully peripheral smear exam, immunocytochemistry and electronic microscopy will be of great help. Differentiation ITP with SS is important to avoid unnecessary diagnostic studies and treatments.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
5/37. A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with netherton syndrome.netherton syndrome (NS) is a severe, autosomal, recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma (CIE), trichorrhexis invaginata (TI) - a distinctive hair-shaft anomaly, and atopic diathesis. Recently, pathogenic mutations were identified in serine protease inhibitor Kazal-type 5 (SPINK5), the gene that encodes lympho-epithelial Kazal-type-related inhibitor (LEKTI), a recently identified type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. Here we report the mutation analysis of a 7-year-old Taiwanese boy with NS manifesting CIE with pathognomic ichthyosis linearis circumflexa and TI. Direct dna sequencing of SPINK5 demonstrated a compound heterozygous mutation in the proband, 2260A>T (K754X) in exon 24 and 2468delA in exon 26. The former is a novel mutation and was detected in the mother. The latter mutation was detected in the father and has been previously reported in several European families. Both mutations are expected to result in premature termination codons. mutation analysis could provide a reliable prenatal diagnosis of this lethal ichthyosis.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
6/37. Six new cases of a caterpillar-induced bleeding syndrome.We describe six new cases of a hemorrhagic diathesis induced by contact with Lonomia achelous caterpillars. Onset of clinical bleeding varied between a few hours and 10 days post-exposure. Laboratory coagulation tests showed prolonged PT, PTT and ThT; normal platelets and a marked decrease of fibrinogen, factor V, plasminogen and factor xiii (including its subunits A and S). Factors VII, II and alfa 2 anti-plasmin were variably affected. In addition, activation of the fibrinolytic system and the generation of a procoagulant effect could also be demonstrated. Two cases developed severe hemorrhagic diathesis and one of them died of a cerebral hemorrhage. Different aspects of this rare syndrome are discussed in relation to its complex physiopathology and the variability observed in all clinical and laboratory manifestations. Therapeutic recommendations and some possible hazards following replacement transfusions are also considered.- - - - - - - - - - ranking = 2keywords = diathesis (Clic here for more details about this article) |
7/37. kasabach-merritt syndrome associated with giant liver hemangioma: the effect of combined therapy with danaparoid sodium and tranexamic acid.n patients with kasabach-merritt syndrome (KMS), local activation of coagulation commonly results in disseminated intravascular coagulation (DIC). Progress of DIC is associated with 30-40% mortality as a result of uncontrollable hemorrhage. A 39-year-old woman with an enlarging giant liver hemangioma was diagnosed as having KMS with DIC. To control the hemorrhagic diathesis, we commenced combination therapy for DIC with danaparoid (1,250 Ux2/day, intravenously (IV)) and tranexamic acid (0.5 g x 3/day, peros (PO). Rapid improvement of the bleeding tendency and coagulopathy occurred in response to this treatment - that is, DIC was controlled without removing the giant hemangioma. The therapy did not restrict the behavior of the patient by continuous drip and angiography could be performed without bleeding. Such therapy may be beneficial in chronic DIC with activation of fibrinolysis.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
8/37. New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyper-extensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
9/37. kasabach-merritt syndrome.The kasabach-merritt syndrome includes the triad of vascular tumors, thrombocytopenia, and a hemorrhagic diathesis. The vascular tumors are usually benign but the associated coagulopathy may be life threatening. We describe a patient whose clinical course illustrates the potential difficulties in management.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
10/37. Hermansky-Pudlak syndrome: case report and clinicopathologic review.The Hermansky-Pudlak syndrome is an autosomal recessive disorder consisting of the triad of albinism, a bleeding diathesis, and ceroid deposition within the reticuloendothelial system. In this study of a patient with Hermansky-Pudlak syndrome, we demonstrate the presence of ceroid within dermal macrophages. Electron microscopic studies suggest that melanosomes may be a substrate for the formation of ceroid in the skin. A review of the clinical and pathophysiologic features of this disorder is presented.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
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