1/7. Intracranial hemorrhage in systemic lupus erythematosus associated with an autoantibody against actor XIII.Intracranial hemorrhage in a young woman with systemic lupus erythematosus necessitated two surgical evacuations. In the absence of a family history of bleeding, clot solubility in urea suggested a factor xiii (FXIII) inhibitor. The patient's IgG bound well to the virgin and the thrombin-modified zymogen ensemble (A(2)B(2) and A(2)'B(2)) and to the free rA(2) but reacted poorly with the thrombin-modified rA(2)'. Since the IgG did not block the thrombin-catalyzed proteolysis of A subunits nor the dissociation of the A(2)'B(2), its action might be to interfere with the release of activation peptides from the thrombin-cleaved zymogen, hindering the conformational change necessary for generating FXIIIa. Treatment with cryoprecipitate and cyclophosphamide arrested the hemorrhage and almost neutralized the antibody so that the patient's clot became insoluble in urea and showed a close to normally crosslinked gamma-gamma and alpha(n) fibrin chain profile. Nevertheless, she still has detectable anti-FXIII antibody and may be at risk for hemorrhage.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
2/7. Severe congenital factor x deficiency with intracranial bleeding in two siblings.Congenital factor x deficiency is a rare autosomal recessive disorder that usually presents with variable bleeding tendency, prolonged prothrombin time and partial thromboplastin time. Therefore, it may be misdiagnosed as hemorrhagic disease of the newborn. Factor X level should be investigated for the definite diagnosis. We first report a new family whose two infants presented with severe intracranial bleeding at different times and were found to have congenital factor x deficiency. plasma replacement therapy was not found to be efficacious in these infants. In conclusion, a possible factor x deficiency should be considered when a newborn presents with intracranial bleeding.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
3/7. Fulminant hemophagocytic syndrome with a high interferon gamma level diagnosed as macrophage activation syndrome.A 26-year-old woman presented with general fatigue, persistent fever, nuchal lymphadenitis, thrombocytopenia, and liver damage. From the bone marrow finding, we diagnosed her condition as hemophagocytic syndrome. Steroid pulse therapy, cyclosporin A treatment, and combined chemotherapy generated no response. The patient showed severe mucosal bleeding, rapidly experienced multiple organ failure, and finally died of a brain hemorrhage on the 13th hospital day. Epstein-Barr virus, cytomegalovirus, human herpes virus type 6, human parvovirus B19, and herpes simplex virus were not detected. Autopsied samples of the spleen, bone marrow, and liver showed extreme proliferation of activated macrophages, so-called histiocytes, without lymphoid malignancy. The interferon gamma level at presentation was prominently high. The continuously elevated levels of ferritin and soluble interleukin 2 receptor were correlated with the catastrophic outcome. The disease in our case mimicked infantile hemophagocytic lymphohistiocytosis. However, there was neither a family history of the disease nor a mutation in the perforin gene. So, it is reasonable to categorize our case as macrophage activation syndrome. Although our patient lacked arthritis or eruption, we cannot deny the possibility that an oligoarthritis type of systemic-onset juvenile rheumatoid arthritis or, considering the patient's age, adult-onset Still disease lies at the base of our case.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
4/7. Intracranial haemorrhage as initial presentation of severe haemophilia B: case report and review of Mayo Clinic Comprehensive Hemophilia Center experience.A neonate who had intracranial haemorrhage (ICH) at birth received a diagnosis of severe haemophilia B at 6 months of age. ICH had been the initial presentation of his bleeding disorder. His family history was negative for haemophilia. review of our institutional experience as well as the literature indicates that intracranial bleeding as the initial presentation of haemophilia is rare.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
5/7. Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation.BACKGROUND: Cerebral cavernous malformations (CCMs) are congenital vascular anomalies that can cause seizures, intracranial hemorrhages, focal neurological deficits, and migrainelike headaches. Magnetic resonance (MR) imaging has substantially facilitated diagnosis of CCM. It is now widely accepted that familial clustering with an autosomal dominant inheritance pattern should be suspected in cases of multiple lesions. OBJECTIVE: To determine by MR imaging the penetrance of cavernous malformations in a 3-generation family that included 5 members with typical clinical signs and diagnostic findings. methods: All family members underwent routine MR T1-weighted and T2-weighted spin-echo sequences in addition to MR T2-weighted gradient-echo sequences. RESULTS: Four family members had been symptomatic with either brainstem bleeding, headaches, or focal neurological signs. The gradient-echo sequences yielded a dramatically higher sensitivity with regard to lesion number and distribution.As in previous reports of familial CCM, an increase in lesion number with increasing age, changes in lesion characteristics, de novo occurrence in serial MR imaging over time, and the phenomenon of anticipation could be confirmed in this family. CONCLUSION: Magnetic resonance gradient-echo sequences should be considered the method of choice for diagnosis of familial CCM.- - - - - - - - - - ranking = 4keywords = family (Clic here for more details about this article) |
6/7. Blue rubber bleb naevus syndrome associated with cortical blindness.An 83-year-old woman was admitted for investigation of sudden loss of vision. Extensive plum-purple papules and nodules involved her skin and lips but not mucosae. A cutaneous biopsy demonstrated irregular vascular cavernous channels in the dermis and subcutis; deeper vessels displayed smooth muscle. Blue rubber bleb naevus syndrome was diagnosed. This patient had no gastrointestinal symptoms, no family history of blue rubber bleb naevus syndrome, and only developed cutaneous signs after 60 years of age. magnetic resonance imaging of the brain found multiple cerebral and cerebellar cavernomas with two larger foci of haemorrhage in both occipital lobes, with the largest in the right occipital lobe being associated with calcification. These most likely represent bleeding in relation to cavernomas believed to be the cause of decreased vision, predominantly in the left eye.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
7/7. Fatal hemorrhagic complication following endovascular treatment of a cerebral arteriovenous malformation. Case report and review of the literature.Evaluation of the natural history of brain arteriovenous malformations (AVMs) including its morbidity and mortality is a crucial point in the management of patients having a cerebral AVM. The risks associated with the AVM natural history, especially regarding the occurrence of an hemorrhage, have to be compared to the risks due to the therapeutic approach. In the literature, the risk of annual bleeding of an AVM is estimated from 2 to 4%. morbidity from AVM rupture is estimated from 13% to 50% with a risk of mortality reported from 3 to 30%. Endovascular treatment is an efficient tool in the therapy of these lesions. However, AVM embolization remains a difficult procedure. Complications of the endovascular treatment must be evaluated in relation to the potential risk associated to the AVM natural history. After AVM endovascular treatment, morbidity with permanent neurological deficit is reported in 0.4% to 12.5% of patients and mortality in 0.4% to 7.5%. In more recent reports, after brain AVM embolization, a permanent neurological deficit is estimated to occur in 9% of patients and death in 2%. Hemorrhage appears the most frequent and serious complication in the endovascular treatment of a brain AVM. We report a case of fatal hemorrhagic complication following endovascular treatment of a cerebral AVM in a 20 year old patient. This case contributes to remind that embolization, even in specialized centers with experience in the management of this pathology, can be followed by a poor and even fatal outcome. In most cases, the treatment is performed in order to protect the patient of a potential risk. Consequently, the complication of the embolization must always be carefully considered and discussed between the medical team, the patient and its family for planning the AVM endovascular treatment.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |