We report on an 11-year-old Omani boy who presented with acute heart failure due to dilated cardiomyopathy. Examination revealed the presence of left ventricular thrombi on echocardiography and a marked elevation of anticardiolipin antibodies. Subsequently the boy exhibited features of antiphospholipid syndrome including multiple thrombotic episodes involving the brain, and ...

The classical clinical picture of the antiphospholipid syndrome (APS) is characterized by venous and arterial thromboses, fetal losses and thrombocytopenia, in the presence of antiphospholipid antibodies (aPL), namely lupus anticoagulant (LA), anticardiolipin antibodies (aCL), or antibodies to the protein "cofactor" b2 glycoprotein I. Single vessel involvement or multiple vascular occlusions ...

We present, herein, a case of venous thrombosis who was lupus anticoagulant negative and had low levels of anticardiolipin antibodies at the time of initial presentation. A definite diagnosis of antiphospholipid syndrome (APS) could be made only when repeat testing, six months later, revealed a dramatic rise of these antibodies.

A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are presumed to be ...

We report the case of a 33-year-old female with known primary antiphospholipid syndrome who, despite full-dose oral anticoagulation, presented with myocardial infarction, acute respiratory distress syndrome, purulent bronchitis, and septic shock. Antiphospholipid antibodies and anti-beta2-glycoprotein-1 titres were markedly elevated. The patient was diagnosed with catastrophic antiphospholipid syndrome and treated with ...

Sneddon's syndrome is characterized by livedo reticularis and multiple ischemic infarcts often associated with antiphospholipid antibodies. Intracerebral hemorrhage (ICH) is unusual in Sneddon's syndrome and has not been reported as the presenting complaint. We report a 38-year-old woman with a history of two miscarriages, Raynaud's phenomenon and livedo reticularis who ...

A syndrome associating Livedo Reticularis (LR) with Cerebrovascular disease (CVD) was described, in 1965, by Sneddon. It occurs sporadically, but a few familial cases of Sneddon's Syndrome (SS) have been reported, like these 3 cases that represent one of the largest number among siblings. We studied three male brothers, aged ...

Schnitzler's syndrome is a rare condition with chronic urticaria, intermittent fever, bone pain, and a monoclonal IgM gammopathy. Most patients have a chronic and indolent course, but a small number ultimately progress to a lymphoplasmacytic malignancy. We describe a patient with Schnitzler's syndrome who entered an accelerated phase of clinical ...

Previous observations have shown that the syndrome of thyroid autoimmunity and idiopathic urticaria and angioedema (ICUA) can be associated with a marked worsening of reactive airway disease. Possibly, mediators released in this syndrome may contribute to acute bronchospasm and associated respiratory symptoms in some patients. In this study, two patients ...

Purple toes syndrome is an extremely uncommon, nonhemorrhagic, cutaneous complication associated with warfarin therapy. It is characterized by the sudden appearance of bilateral, painful, purple lesions on the toes and sides of the feet that blanch with pressure. The syndrome usually develops 3-8 weeks after the start of warfarin therapy. ...

Lemierre syndrome is a severe postanginal sepsis complicated by internal jugular thrombophlebitis. We report on a 14 y-old girl affected by high fever, shivering chills, headache, severe lateral neck pain, left ocular proptosis and general malaise. Magnetic resonance imaging of the head and neck showed right internal jugular vein and ...

Antiphospholipid syndrome (APS) is defined as the occurrence of thrombosis, recurrent miscarriage, or both in association with laboratory evidence of persistent antiphospholipid antibodies. Owing to protean manifestations and laboratory studies, the diagnosis may be difficult. Because the other signs and symptoms of thrombosis are predominant, prolonged fever is not usually ...

We describe a young woman whose initial presentation was dominated by acute diarrhoea. Life-threatening multiorgan failure rapidly ensued and necessitated mechanical ventilation and dialysis treatment. An initially elongated activated partial thromboplastin time prompted further coagulation tests that led to the detection of positive lupus anticoagulant, a highly elevated IgG-anticardiolipin (aCL) ...

We report a case of polyvalvar disease and recurrent thrombosis in a 2-year-old boy due to primary antiphospholipid antibody syndrome. His diagnosis was delayed, and he was treated for other diagnoses, including culture-negative endocarditis. Primary antiphospholipid antibody syndrome is rarely discussed in the pediatric cardiology literature, and this case highlights ...

Felty's syndrome is characterized by neutropenia, splenomegaly, and leg ulcers in patients with rheumatoid arthritis. The pathogenesis of the neutropenia is an immune-mediated process that involves immune complexes, antineutrophil antibodies, and abnormal white cell kinetics. We prescribed salazosulfapyridine to a 65-year-old woman with this syndrome. The neutropenia improved along with ...

The activated clotting time (ACT) may be an unreliable monitor of coagulation for patients with the antiphospholipid syndrome. We describe a patient with antiphospholipid syndrome in whom adequate anticoagulation during cardiopulmonary bypass was confirmed by monitoring both the ACT and anti-factor Xa levels. The cardiopulmonary bypass was uneventful, and there ...

The antiphospholipid syndrome (APS, Hughes' syndrome), first described in 1983, is a prothrombotic disease in which neurological events feature prominently. Strokes, transient ischaemic attacks, and headaches (including migraine) are important complications. However, it is clear that other neurological symptoms, including diplopia, memory loss, ataxia, and "multiple sclerosis-like" features are common. ...

The antiphospholipid (Hughes) syndrome (APS) is characterized by arterial and/or venous thrombosis and pregnancy morbidity in the presence of anticardiolipin antibodies and/or lupus anticoagulant. APS can occur either as a primary disorder or secondary to a connective tissue disease, most frequently systemic lupus erythematosus. Central nervous system (CNS) involvement is ...

We describe a 48-year-old woman with primary antiphospholipid syndrome who developed acute adrenal failure after an operation for a uterine myoma. After surgery, she developed a preshock state with hypotension, hypoglycemia, and hyponatremia. A diagnosis of primary antiphospholipid syndrome was made based not only on her past history of skin ...

Although many types of neurological disorders and events have been described in association with antiphospholipid antibodies (aPL) and the antiphospholipid syndrome (APS), only ischaemic stroke is reasonably well established and accepted as a diagnostic criterion for the syndrome. We propose to evaluate, classify and rank the association of other neurological ...

Hypothetical circumstances that may require prophylaxis for a potential antiphospholipid syndrome (primary prophylaxis), or in some instances when there already had been some manifestations ofthe syndrome (secondary prophylaxis), were presented to a panel of experts for their consideration on potential prophylactic intervention. These were subsequently presented to the participants in ...

Nonhealing skin ulceration is a cutaneous manifestation of the antiphospholipid syndrome (APS) and is associated with thrombosis of small dermal vessels. Numerous therapies have been described but are either ineffective or require a prolonged course of treatment with potential complications. We describe the efficacy of sildenafil, a phosphodiesterase inhibitor, in ...

Hypostatic ulceration of the legs is relatively uncommon in men. Recently, the hypothesis that recurrent ulceration in men may be associated with chromosomal abnormalities such as Klinefelter's syndrome is gradually being accepted. Herein, we describe a patient with Klinefelter's syndrome complicated by recurrent leg ulcers, in whom immunological disorders such ...

Klinefelter's syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized by small, firm testes, azoospermia, gynecomastia, varying degrees of eunuchoidism and testosterone deficiency with elevated gonadotropin plasma levels. In Klinefelter's syndrome there is an ...

Two patients with Down syndrome and the primary antiphospholipid antibody are described. One patient had a vasculopathy similar to that previously described as Moyamoya. Down syndrome is characterized by immune defects including a tendency to autoimmune phenomena. This report extends the scope of these observations and particularly draws out the ...

We report a 14-year-old boy with Stevens-Johnson syndrome who presented with mucous membrane lesions but without skin lesions and discuss the differential diagnosis of oral mucous membrane lesions in childhood. Stevens-Johnson syndrome in children is most frequently caused by a Mycoplasma pneumoniae infection. The full clinical picture of Stevens-Johnson syndrome ...

We describe four patients with widespread cutaneous necrosis as a manifestation of the antiphospholipid antibody syndrome. In three of the patients, the lesions were the first manifestation of the syndrome, and they were located in upper and lower extremities. Vascular thrombosis was present in the skin biopsy in all of ...

Rituximab is a chimeric mouse/human anti-CD20 antibody licensed for the treatment of low-grade non-Hodgkin's lymphoma and has recently also been shown to have a role in the treatment of diffuse large B-cell lymphoma. We report a case of Stevens-Johnson syndrome after treatment with rituximab, which occurred in a 36-year-old man ...

The antiphospholipid syndrome (APS) defines the clinical association between antiphospholipid antibodies and a syndrome of hypercoagulability or thrombophilia (the term of "sticky blood" is sometimes used in APS). Antiphospholipid antibodies comprise a broad family of antibodies including both lupus anticoagulants and anticardiolipin antibodies. The pathogenesis of APS remains unclear. Nevertheless, ...

PURPOSE OF REVIEW: This review discusses recent advances and current controversies in the aetiology, investigation and management of paraneoplastic neurological syndromes. RECENT FINDINGS: Antibody studies continue to define potential target autoantigens in paraneoplastic neurological syndromes and although pathogenic activity has been demonstrated for anti-glutamate receptor antibodies identified in a subset ...

Thrombotic events account for significant morbidity and mortality among patients with antiphospholipid syndrome. The cornerstone of management includes long-term anticoagulation. However, the benefit of long-term anticoagulation must be weighed against the risk of bleeding complications. This article presents the case of a patient with systemic lupus erythematosus and antiphospholipid syndrome ...

Graves' disease (GD) has been reported to be frequently complicated with other autoimmune diseases. However, it is rarely complicated with scleroderma-polymyositis overlap syndrome. Recently, we encountered a 35-year-old woman who developed GD and immune thrombocytopenic purpura during follow-up observation of scleroderma-dermatomyositis overlap syndrome. Platelet counts recovered after high-dose gamma-globulin therapy ...

The Libman and Sacks non bacterial endocarditis was reported in 1924 in patients with SLE. Its relation to the anti cardiolpin syndrome has only been described as recently as the last decade. In this paper we review the deposition of these antibodies on the valve with complement components initiating the ...

This case report describes a 24-year-old female who presented with sudden onset of painless diplopia and ptosis in her left eye. Examination identified an isolated incomplete pupil-sparing left oculomotor nerve palsy. Magnetic resonance imaging demonstrated focal hyperintensity in the left midbrain with infarction suggested by diffusion-weighted imaging. A diagnosis of ...

OBJECTIVES: To report the clinical features and outcome of 24 Brazilian patients with optic neuromyelitis syndrome (ONM); discuss the underlying pathological events associated with the ONM syndrome; review the nosological situation of ONM in the group of inflammatory and demyelinating diseases of the central nervous system. PATIENTS AND METHODS: Patients ...

To describe the clinical profiles of five patients with Down syndrome and elevated levels of antiphospholipid antibodies. Medical records of all 149 patients screened for anticardiolipin antibodies (aCL) in the pediatric hematology or pediatric rheumatology clinics at New England Medical Center between 1996 and 1998 were retrospectively reviewed, and patients ...

Antiphospholipid antibody syndrome has been associated with vascular thrombosis, thrombocytopenia, hemolytic anemia, livedo reticularis, neurologic disorders, and recurrent fetal loss. The diagnosis of antiphospholipid syndrome is given in the presence of an elevated anticardiolipin antibody lupus anticoagulant in addition to a thrombotic event. Antiphospholipid antibodies are responsible for a majority ...

The stiff man syndrome (SMS) and its variants, focal SMS, stiff limb (or leg) syndrome (SLS), jerking SMS, and progressive encephalomyelitis with rigidity and myoclonus (PERM), appear to occur more frequently than hitherto thought. A characteristic ensemble of symptoms and signs allows a tentative clinical diagnosis. Supportive ancillary findings include ...

Glycosphingolipid biology has increasingly interfaced with the field of human autoimmune neuropathy over the last two decades. There are currently over 20 distinct glycolipids that have been identified as autoantibody targets in a wide range of clinical neuropathy syndromes. This review sets out the clinical and experimental background to one ...

Ovarian hyperstimulation syndrome is a serious complication of ovulation induction and has a diverse clinical spectrum from edema to thromboembolism. Antiphospholipid antibody syndrome, one of the well known hypercoagulable states, can be also manifested as an arterial or venous thrombosis and recurrent spontaneous abortion. Sometimes a patient with antiphospholipid antibodies ...

Antiphospholipid syndrome is defined by recurrent thrombotic events and fetal losses in the presence of anti-phospholipid antibodies detectable by beta 2 glycoprotein I-dependent anti-cardiolipin and/or lupus anticoagulant assays. Thrombosis can occur in any vascular district but deep veins and cerebral arteries represent the most frequent sites. Both early and late ...

Diseases affecting both the lung and the kidney have grave prognosis and serious diagnostic and therapeutic consequences. Here, 3 cases of pulmonary-renal syndrome caused by antiphospholipid syndrome are reported. The patients presented with dyspnea, renal insufficiency, pulmonary infiltrates on chest X-ray and areas of ground glass attenuation on computed tomography ...

Antiphospholipid syndrome is accepted as one of the most important causes of hypercoagulable states. Thrombotic events in patients with antiphospholipid syndrome, predominantly women, occur at a younger age than in those suffering from atherosclerotic disease. The majority of the thrombotic events affect the deep venous system of the lower limbs ...

Cardiac valvular abnormalities detected by echocardiography are relatively common in patients with the primary antiphospholipid syndrome. Valvular thickening with small vegetations are typical, but reports of lesion histology are rare. We report the case of a 50-year-old man presenting with thromboembolic phenomena who had a large (>2 cm), mobile, pedunculated, ...

The antiphospholipid syndrome is defined by the presence of autoimmune antiphospholipid antibodies in serum together with venous, arterial or small-vessel thrombosis and/or morbidity with pregnancy. Superior mesenteric vein thrombosis represents a rare complication associated with this syndrome; triggering events such as surgical procedures, drug administration and anticoagulation withdrawal have been ...

The antiphospholipid syndrome is an autoimmune hypercoagulability syndrome in which a wide variety of thromboembolic diseases may occur. Gastrointestinal manifestations associated with vascular occlusion include Budd-Chiari syndrome, hepatic and splenic infarction, pancreatitis, omental and intestinal infarction, and esophageal variceal bleeding due to portal vein thrombosis, but chronic mesenteric ischemia associated ...

The optimal method of prophylaxis against venous thromboembolism after total hip replacement (THR) remains uncertain. Most surgeons use some form of pharmacological prophylaxis, most commonly heparin. The precise balance of the benefits and risks is unclear, and serious complications can occur. We describe a case of heparin-induced thrombocytopenia and thrombosis ...

Acute vascular events are rare in the pediatric population, but there is an association with the presence of antiphospholipid antibodies. When there is no other underlying medical disorder, this is referred to as primary antiphospholipid syndrome. We present a case of a 15-year-old boy who developed an acute superior branch ...

Two months after surgical resection of a bronchogenic carcinoma, a 69-year-old patient presented with Schönlein-Henoch purpura with kidney involvement followed by pulmonary hemorrhage. The presence of an IgA linear pattern on the kidney biopsy specimen and circulating anti-glomerular basement membrane (GBM) IgA antibodies led to the diagnosis of Goodpasture syndrome, ...

We report a patient with severe sensory ataxia, areflexia, and ophthalmoplegia with preservation of limb muscle strength. Electrophysiological examinations revealed peripheral sensory nerve involvement. A serological examination showed the elevation of IgG antibodies to various b-series gangliosides as well as GT1a. These indicated that this case is an overlap between ...