Chorée révélant une polyglobulie primitive

Neurological manifestations in polycytemia vera are common. However, chorea is an exceptionally revealing feature of this disease. We report a 78-year-old man who presented with headache and an abnormal movement disorder corresponding to chorea. Laboratory findings showed increased levels of hemoglobin at 20 g/dl and hematocrit at 62.3%. An elevated erythrocyte mass to twice the normal value demonstrated the absolute erythrocytosis. A JAK2 V617F gene mutation was identified. A diagnosis of polycytemia vera-associated chorea was obtained. Clinical and biological outcomes were favorable after therapeutic phlebotomy and treatment with hydroxyurea. We recommend a complete blood cell count in elderly patient presenting with chorea to eliminate a diagnosis of polycytemia vera.     

Chorea in polycythemia vera: a rare presentation of hyperviscosity

Summary A 65-year-old woman developed severe chorea as the presenting symptom of the hyperviscosity syndrome together with polycythemia vera and an ovarian cyst. Whole blood viscosity was 69.5 centipoise at a shear rate of 1.1 s^–1 (normal 12.0–22.0 centipoise). After four phlebotomies the chorea subsided completely, and the blood viscosity became normal. Hemoglobin level was stable at normal range and then increased to 18.0 g/dl with recurrence of the faciobuccal dyskinesia that disappeared promptly following the phlebotomies. This case emphasizes that in elderly patients with neurological disorders, such as chorea, polycythemia should be strongly considered as one of the treatable causes.     

Polycythaemia Vera — Transformation to Myelofibrosis and Subsequent Reversal

A woman aged 67 who developed polycythaemia vera 21 years ago has been seen regularly since the diagnosis was first made. She was treated initially with pyrimethamine and then for 10 years by repeated venesections. After a 4 year period when her myeloproliferative disease was considered to be transitional a complete transformation to myelofibrosis occurred. She was treated by splenic irradiation and later with alkylating agents in an attempt to give her symptomatic relief from massive splenomegaly. Repeated and massive haemorrhage from gastro-oesophageal varices was treated initially by percutaneous transhepatic sclerosis of the gastro-oesophageal collateral vessels. A subsequent dacron mesocaval jump graft operation was successful in preventing further haematemesis and melaena. During the last year transformation back to polycythaemia vera has occurred. The evolution of her myeloproliferative disease has been fully documented by detailed blood counting, bone marrow aspirates and trephine biopsies, blood volume studies and other radioisotope investigations including the quantitation of functional erythropoietic tissue with ⁵²Fe.     

Polycythaemia vera-transformation to myelofibrosis and subsequent reversal

A woman aged 67 who developed polycythaemia vera 21 years ago has been seen regularly since the diagnosis was first made. She was treated initially with pyrimethamine and then for 10 years by repeated venesections. After a 4 year period when her myeloproliferative disease was considered to be transitional a complete transformation to myelofibrosis occurred. She was treated by splenic irradiation and later with alkylating agents in an attempt to give her symptomatic relief from massive splenomegaly. Repeated and massive haemorrhage from gastro-oesophageal varices was treated initially by percutaneous transhepatic sclerosis of the gastro-oesophageal collateral vessels. A subsequent dacron mesocaval jump graft operation was successful in preventing further haematemesis and melaena. During the last year transformation back to polycythaemia vera has occurred. The evolution of her myeloproliferative disease has been fully documented by detailed blood counting, bone marrow aspirates and trephine biopsies, blood volume studies and other radioisotope investigations including the quantitation of functional erythropoietic tissue with 52Fe.     

Paraneoplastic eosinophilic fasciitis: a case report

A 60-year-old white woman with polycythemia rubra vera post splenectomy in November 2001 was found to have peripheral white blood cell counts increasing over 3 months. Cytogenetics revealed trisomy of chromosomes 8 and 9, and bone marrow biopsy showed hypercellular, fibrotic bone marrow consistent with myelofibrosis of polycythemia rubra vera. Two months later, the patient developed acute swelling and pain in her lower extremities. The clinical symptoms along with confirmatory histology supported the diagnosis of eosinophilic fasciitis. This is the first reported case in the English literature of an association between polycythemia vera and eosinophilic fasciitis.     

Chorea as a side effect of gabapentin (Neurontin®) in a patient with complex regional pain syndrome Type 1

We report the case of a woman who developed chorea in her neck, trunk, and extremities soon after taking gabapentin as treatment for complex regional pain syndrome Type 1. The chorea lasted for a year and resolved completely within 2 weeks of discontinuing gabapentin.     

Sydenham's chorea in Tunisia: a report on 65 cases (author's transl)]

Sydenham's chorea was observed in 65 patients in Tunisia during the period 1971-1976. The average age of onset was 10.8 years, and girls were affected twice as often as boys. Sydenham's chorea is a seasonal disorder; it usually develops between the months of november and march, and its frequency is closely related to that of Bouillaud's disease. A study of the past history of infections disease or rheumatic disorder (ARF), and biological tests for inflammation (sedimentation rate, blood fibrin levels, antistreptolysins O, and culture of throat swabs), showed that it is possible to distinguish cases of true chorea occurring alone from those in which it is associated with a rheumatic affection. These facts are discussed in the light of the data published in the literature. The authors conclude that sydenham's chorea and acute rheumatic fever are but two unrelated expressions of a streptococcal infection. Anti-inlammatory treatment with corticoids, therefore, is only indicated in the presence of signs of rheumatic affection.     

Chorea complicating oral contraceptive therapy: Case report and review of the literature

Oral contraceptive-induced chorea occurs infrequently; therefore, this serious complication of birth control pills may be generally unrecognized as a potential side effect. A patient with oral contraceptive-induced chorea is described and a review of the literature presented. A previous episode of chorea predisposes towards estrogen-progesterone-induced chorea; therefore, other methods of contraception should be considered in patients with a past medical history of Sydenham's chorea or chorea gravidarum. Vascular, immunologie and neurotransmitter abnormalities are discussed as possible etiologies for gestational steroid-induced chorea.     

RECURRENT HORMONE DEPENDENT CHOREA: EFFECTS OF OESTROGENS AND PROGESTOGENS

A case of hemi-chorea is described in a young woman, initially following administration of an oral contraceptive pill and recurring in a subsequent early pregnancy. The chorea ceased with the removal of the aetiological factor on each occasion. Subsequent challenge with a combined oestrogen/progestogen pill resulted in recurrence of the chorea, but the patient has been successfully maintained on a progestogen without any further symptoms. Thus it would appear that oestrogen component was the precipitating factor for the chorea.     

Geriatric chorea

The differential diagnosis, diagnostic evaluation, and treatment of late-onset chorea are reviewed. Late-onset chorea is rare and has a heterogeneous causation. A systematic approach to geriatric chorea greatly enhances a correct diagnosis. An accurate diagnosis is important because many causes of chorea are treatable or or, when heritable, may have significant implications for subsequent generations. Most late-onset chorea is either nonlimiting, requiring no treatment, has a spontaneous remission, or responds to medication. In a minority of patients, chorea is medically refractory or manifestation of an untreatable disorder.     

Valvular deposition of antiphospholipid antibodies in the antiphospholipid syndrome: a clue to the origin of the disease

In this report we present an unusual case of a 45-year-old female patient with systemic lupus erythematosus (SLE) who was hospitalized for mitral valve replacement. In her childhood she presented with mitral stenosis and chorea on which grounds a preliminary diagnosis of rheumatic fever was established. After a quiescent period lasting two decades her disease erupted with mitral stenosis, thromboembolic phenomena, and nephritis. Due to severe malfunctioning of her mitral valve, the patient eventually underwent mitral valve replacement. The antibodies involved in the pathogenesis of our patient's valvular disease were studied by immunohistochemical analysis, applying rabbit polyclonal anti-human IgG and IgM anti-human C3c and anti-idiotypes to a mouse monoclonal naturally occurring polyspecific human monoclonal anti-cardiolipin antibody termed S2.9, and to the 16/6 Id which defines a common Id on anti-DNA antibodies in patients with SLE. Immunoperoxidase staining using an anti-idiotype mAb to anti-cardiolipin antibodies demonstrated the deposition of these anti-bodies in the subendothelial layer of the valve. We believe that anti-phospholipid syndrome (APS) with SLE was the initial and primary disease in this patient. These findings clearly indicate that APS must be considered in the differential diagnosis of rheumatic fever, particularly in young female patients who present with mitral stenosis and chorea.     

Polycythemia vera with an inhibitor against factor XII

A case of polycythemia vera with an inhibitor against factor XII was reported. A 60-year-old female was admitted to Hokkaido University School Hospital because of erythrocytosis and hepatosplenomegaly. The hemoglobin was 22.5 g/dl and white cell count was 9,500/microliters without immature cells. The platelet count was 484,000/microliters. Bone marrow specimens showed marked hypercellularity. Philadelphia chromosome was not found on chromosome analysis. She was diagnosed as polycythemia vera according to the criteria of polycythemia Vera Study Group. Activity of factor XII was found to be decreased on the initial examination, but she had no personal and familial history of bleeding. In order to clarify the cause of decreased activity of factor XII, her plasma was mixed with normal plasma, and then examined PTT using factor XII deficient plasma. Her plasma mixed with equivalent normal plasma did not show the correction of prolonged PTT. It was suggested that an inhibitor of her plasma was included in the IgG fraction using gel chromatography. The patient was treated with phlebotomy and administration of N4-palmitoyl (1- -D-arabinofurasyl) cytosine (derivative of cytosine arabinoside; PLAC) 200 mg/day and Busulfan (1 mg/day). Factor XII was not corrected by phlebotomy, but corrected gradually by administration of PLAC and Busulfan.     

Acute total aortic occlusion during cardiac catheterization associated with polycythemia vera

We present a case of acute total aortic occlusion at the time of cardiac catheterization in a 62-yr-old female with an acute myocardial infarction and newly diagnosed polycythemia vera. Despite normalization of serum viscosity and red cell mass by phlebotomy, her predisposition to thrombosis persisted. Caution is advised when considering cardiac catheterization in patients with this disease.     

Chorea in a pregnant woman with rheumatic mitral stenosis

Chorea gravidarum is a rare movement disorder of pregnancy with a broad differential diagnosis. Although often a benign condition, it may indicate underlying acute rheumatic fever, antiphospholipid antibody syndrome or a hypercoagulable state. However, now that rheumatic fever is rare in western countries, chorea gravidarum occurs most commonly in patients with chronic rheumatic heart disease. Heightened awareness of chorea gravidarum and the morbidity of the often associated rheumatic heart disease, particularly in immigrants from developing countries, is essential for early diagnosis and effective management. A case of chorea gravidarum in a woman with rheumatic mitral stenosis is described. The diagnostic approach, pathophysiology and management of this rare condition are discussed.     

Chorea gravidarum in systemic lupus erythematosus

A case of chorea gravidarum in a patient with systemic lupus erythematosus (SLE) is described. Review of the literature on chorea gravidarum suggests that SLE may be a more common cause than previously reported. Treatment of chorea gravidarum in SLE patients is discussed.     

Successful emergency treatment with a transjugular intrahepatic portosystemic shunt for life-threatening Budd-Chiari syndrome with portal thrombotic obstruction

We report successful treatment of acute severe Budd-Chiari syndrome with portal venous thrombosis. The prognosis of patients with this condition is poor, because the therapeutic options are limited. A 38-year-old woman with polycythemia vera was admitted in a critical condition, and Budd-Chiari syndrome complicated by portal venous thrombosis was diagnosed. Tissue plasminogen activator and urokinase were infused systemically and were partially effective. Transjugular intrahepatic portosystemic shunting to reduce the high portal venous pressure was performed successfully and, eventually, her general condition improved. Our experience indicates that emergency transjugular intrahepatic portosystemic shunting is an effective therapeutic modality for controlling portal hypertension in patients with severe Budd-Chiari syndrome with portal venous thrombosis.     

Treatment of the myeloproliferative disorders with 32P

Abstract: The use of radioactive phosphorus (³²P) to treat the myeloproliferative disorders (chronic leukemia, polycythemia vera and essential thrombocythemia) began in 1939 when John H. Lawrence treated the first patient on the basis of work done in the laboratory anima that found localization of the radioisotope in the spleen, liver, bone and in leukemic cells sufficient to indicate a therapeutic potential. After World War II when ³²P became widely available, it was used extensively to treat the chronic leukemias and polycythemia vera. Its use in the treatment of essential thrombocythemia began later in 1950. Today it is not widely used in the treatment of the chronic leukemia, if at all, its use in polycythemia vera appears to have decreased substantially and replaced by hydroxyurea, and its use in the management of essential thrombocythemia is not widespread. In each instance it has been replaced by a drug developed for use in cancer chemotherapy, and in some instances by interferon. It probably has wider use in polycythemia vera in the rest of Western Europe than in the UK, and there are cogent reasons to suggest that it may be the best tool for the treatment of polycythemia vera. Thus have we discarded a treatment modality that in polycythemia vera may be the best?     

Isolated cerebellar infarction as a presenting symptom of polycythemia vera.

Although polycythemia vera is one of the reported causes for cerebral infarction, isolated cerebellar infarction, a rare disorder, was never reported in combination with polycythemia vera. This is a report of a 72-year-old woman in whom isolated cerebellar infarction was the presenting manifestation of polycythemia vera. The patient was treated with recurrent phlebotomies until the hematocrit decreased to < 45%. This treatment was followed by marked neurological improvement. A better awareness of the possibility of cerebellar infarction in polycythemia vera may disclose additional cases.     

Antiphospholipid syndrome and rheumatic fever: a case spanning three decades of changing concepts and common immunological mechanisms

We present a case of primary antiphospholipid syndrome (APS), initially diagnosed as acute rheumatic fever, resulting in severe mitral valve incompetence. This case raises questions of the specificity of the Jones diagnostic criteria for rheumatic fever in a population where it is infrequently encountered. There are similarities in clinical, pathological and echocardiographic presentations between rheumatic fever and APS, in addition to common immunological mechanisms. Our case highlights the possibility that rather than rheumatic fever being primarily responsible for her recurrent attacks of chorea and arthritis, the streptococcal infections in our patient occurred either in the setting of underlying antiphospholipid antibodies ('second hit' phenomenon), or may have triggered the development of pathogenic antibodies (molecular mimicry), subsequently leading to the clinical evolution of APS. During the three decades of our patient and her recurrent problems, there has been an evolving knowledge of the mechanisms of APS and rheumatic fever, allowing us to extend our understanding beyond symptoms and syndromes, to a better realization of the underlying immunological relationship between the two.