11/179. Postinfection purpura fulminans in a patient heterozygous for prothrombin G20210A and acquired protein S resistance.purpura fulminans usually consists of large, often symmetrical, spreading ecchymosis, which may later develop into extensive areas of skin necrosis and peripheral gangrene. Postinfectious purpura fulminans associated with an autoantibody directed against protein S has been described. The interaction and the contribution of recently described mutations such as factor v Leiden and prothrombin G20210A to the development and progression of postinfectious purpura fulminans and venous thrombosis is not known. The authors describe a patient heterozygous for prothrombin G20210A who developed purpura fulminans and extensive venous thrombosis secondary to acquired protein s deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
12/179. Mesenteric vein thrombosis secondary to protein s deficiency.Mesenteric vein thrombosis is an uncommon condition. Diagnosis is often difficult because of the nonspecific clinical presentation and findings on routine laboratory and radiological evaluation. endoscopy is usually unrevealing. An underlying hypercoagulable state is often present, but protein s deficiency has rarely been implicated. We describe a case in which chronic inferior mesenteric vein thrombosis, with remarkable endoscopic findings, occurred as the initial presentation of type I protein s deficiency.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
13/179. Dural sinus thrombosis in a patient with protein s deficiency--case report.A 23-year-old female presented with dural sinus thrombosis caused by protein s deficiency. She suffered superior sagittal sinus thrombosis 6 days after delivering her first child. Past history showed deep vein thrombosis at the age of 20. While conservative management was initiated because of the potential risk of increasing intracranial hemorrhage, several hours later she deteriorated rapidly because of severe brain swelling with massive hemorrhage. The patient died despite surgical decompression. autopsy disclosed organized thrombus in the superior sagittal and transverse sinuses. Although the total concentration of protein S was normal, the free protein S concentration and protein S activity were decreased. protein s deficiency is a rare cause of dural sinus thrombosis, but is associated with a high mortality rate, so accurate diagnosis and urgent intervention are required.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
14/179. Homozygosity for the protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors.The multifactorial character of thrombotic disease is shown in a Spanish pedigree in which the propositus, with recurrent deep vein thrombosis, inherited the factor v R/Q506 mutation, the prothrombin 20210G/A variant and type III protein s deficiency. Among 14 relatives carrying one or two of these three risk factors, thrombosis is present in a heterozygote for R/Q506 and in another for 20210G/A, who also had slightly positive antiphospholipid antibodies. Type I PS deficiency was also found in a young asymptomatic woman. PROS1 analysis showed coexistence of type III and type I PS deficiency to be associated with heterozygosity and homozygosity, respectively, for the P460 or PS Heerlen allele of the S/P460 variant. Analysis of PS values in this and other pedigrees segregating this variant revealed that not only free but also mean total PS levels are slightly but significantly lower in the SP460 heterozygotes than in the SS460 homozygotes. These findings strongly suggest a role of the P460 variant in the expression of the PS deficient phenotype.- - - - - - - - - - ranking = 7keywords = deficiency (Clic here for more details about this article) |
15/179. Right atrial and ventricular thrombi in Behcet's disease: a case report and review of literature.Behcet's disease is a chronic multi-system disease presenting with recurrent oral and genital ulceration, and relapsing uveitis. Cardiac involvement is an extremely rare manifestation of this disorder. We report an unusual case of Behcet's disease characterized by a mural cardiac thrombi in the right atrium and right ventricle along with transient protein c and S deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
16/179. sagittal sinus thrombosis associated with transient free protein s deficiency after L-asparaginase treatment: case report and review of the literature.Cerebral sinus thrombosis associated with acquired free protein s deficiency is very rare. We report the case of an adult patient with acute lymphoblastic leukemia who presented with repeated transient ischemic attacks followed by a seizure during consolidation treatment with L-asparaginase. Magnetic resonance of the brain showed a small cortical hemorrhagic infarct. Superior sagittal sinus thrombosis was demonstrated by cerebral angiogram. A marked decrease of the free form of protein S was documented. One month later, when the patient was free of symptoms, the follow-up free protein S antigen level was restored to the normal range. We suggest that the sagittal sinus thrombosis in this patient was caused by acquired, transient free protein s deficiency. This case also extends the clinical spectrum of cerebral sinus thrombosis to include recurrent transient ischemic attacks alternating with seizures.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
17/179. Spontaneous superior mesenteric vein thrombosis (SMVT) in primary protein s deficiency. A case report and review of the literature.Superior mesenteric vein thrombosis (SMVT) is an uncommon but important clinical entity that can induce ischemia or infarction of the small and large bowel. It is rare and accounts for 5-15% of mesenteric vascular occlusions. Bowel infarction due to SMVT can present as an acute abdominal disease, requiring urgent laparotomy with resection of the intestinal segment affected. However, the clinical diagnosis of this event remains difficult and invariably requires specific imaging investigations in order to be able to treat the condition as soon as possible. SMVT without bowel infarction can present as persistent, non-specific abdominal pain and nausea with minimal clinical signs, affecting young individuals without any known predisposing disorder, where laparotomy is not an urgent indication. We report a case of a young adult man with SMVT due to a hypercoagulable state (protein s deficiency), in whom an early diagnosis and appropriate anticoagulant treatment prevented any further extension of the thrombotic process and limited the hemorrhagic infarction of the ileum, which simply required a segmental resection.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
18/179. Recurrent venous thrombosis in a patient with chronic lymphocytic leukemia and acquired protein s deficiency.A patient with chronic lymphocytic leukemia and an undetectable plasma level of protein S (PS), associated with recurrent venous thrombosis, is described. The laboratory investigation revealed the concomitant presence of an inhibitor directed to PS and a monoclonal protein in the patient's plasma. After treatment with prednisone and cyclophosphamide both the inhibitor to PS and the monoclonal component disappeared.- - - - - - - - - - ranking = 4keywords = deficiency (Clic here for more details about this article) |
19/179. Peripheral arterial thrombosis in systemic lupus erythematosis and nephrotic syndrome: possible association with protein s deficiency.Arterial thrombosis in systemic lupus erythematosus (SLE) and nephrotic syndrome have been infrequently reported. A 16-year-old boy with SLE and longstanding nephrotic syndrome presented with peripheral arterial thrombosis when his lupus was at an inactive stage. He did not have antiphospholipid antibodies but had low serum antithrombin iii and protein S levels. We suggest that the thrombotic event is not related to antiphospholipid antibodies but to nephrotic syndrome and possibly to acquired protein s deficiency.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
20/179. Facial palsy in cerebral venous thrombosis : transcranial stimulation and pathophysiological considerations.BACKGROUND: Cranial nerve palsy in cerebral sinovenous thrombosis (CVT) is rare, its pathophysiology remains unclear, and data from electrophysiological examinations in such patients are missing. CASE DESCRIPTION: We report the case of a 17-year-old woman with familial protein s deficiency who was admitted with extensive multiple CVT. Two weeks after onset of symptoms, she developed isolated right peripheral facial palsy, and MR venography showed segmental occlusion of the ipsilateral transverse sinus. Complete recovery of facial palsy occurred concomitant with recanalization of the transverse sinus. Facial neurography, including transcranial magnetic stimulation of the facial nerve and related motor cortex, ruled out a coincidental idiopathic palsy and revealed conduction block proximal to the facial canal. CONCLUSIONS: Facial palsy in our patient was caused by transient neurapraxia in the intracranial segment of the nerve. We suggest that elevated venous transmural pressure in the nerve's satellite vein, which belongs to the affected drainage territory of the transverse sinus, might have caused venous blood-brain barrier dysfunction in the intrinsic vascular system of the nerve, with leakage of fluids and ions into the endoneurial space and thus an increase in interstitial resistance.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
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