[Ocular involvement in polyarteritis nodosa: two cases]. / Atteinte oculaire au cours de la périartérite noueuse. Deux observations.

INTRODUCTION: Polyarteritis nodosa (PAN) is a systemic vasculitis with polymorphic manifestations. Ocular involvement is rare; we report two such cases. CASES: The first case was a 56-year-old man with PAN treated with corticosteroids. A year and a half later, during a disease outbreak associated with decreased visual acuity, ocular examination objectified a localized pigment epithelial detachment in the right eye. The outcome was favorable with corticoid bolus followed by azathioprine. The second case was a 41-year-old man presenting with PAN and decreased visual acuity. Ophthalmologic examination showed inferotemporal branch vein occlusion in the right eye with serous retinal detachments in the left eye. The outcome was favorable with intravenous cyclophosphamide followed by azathioprine. DISCUSSION: The incidence of ocular involvement in PAN varies from 10 to 20%. It is most often associated with vasculitis of retinal and choroidal arteries. Fluorescein angiography is the gold standard of diagnosis. Multifocal acute ischemia of the choriocapillaris is very pathognomonic. Immunosuppressant drugs are effective and should be reserved for severe forms.

[Haemophagocytic syndrome as a complication of acute pancreatitis during systemic lupus erythematosus]. / Syndrome hémophagocytaire compliquant une pancréatite aiguë dans le cadre d'un lupus érythémateux systémique.

BACKGROUND: Acute pancreatitis and haemophagocytic syndrome (HS) are rarely seen in systemic lupus erythematosus (SLE). PATIENTS AND METHODS: We report the case of a young female patient without any noteworthy prior history, who was hospitalised for abdominal pain associated with acute pancreatitis possibly related to SLE with associated haemophagocytic syndrome. DISCUSSION: Screening for cutaneous symptoms of lupus in patients with pancreatitis can help avoid diagnostic errors.

[Ulcerative colitis: exceptional consequence after rituximab therapy]. / La colite ulcérative : une conséquence exceptionnelle après traitement par rituximab.

INTRODUCTION: Possible adverse complications related to rituximab (RTX) are low, some of which are extremely rare. The authors describe one situation visibly waning exceptional treatment with RTX for SLE refractory to conventional therapies. COMMENT: The authors report a patient of 34 years followed for months for an illness in its bullous lupus, with cutaneous, articular, hematologic and immunologic. Given a corticosteroid resistance, several therapeutic background based hydroxychloroquine, cyclophosphamide and methotrexate, were initiated without any improvement. Immunomodulatory therapy type RTX was introduced to this form refractory at a rate of 375mg/m(2)/week. The waning of the second infusion, the patient presented a sudden intense abdominal pain syndrome, revealing an acute catarrhal appendicitis. At distance from the appendectomy, the consequences of which were favorable, treatment with RTX was resumed. In the aftermath of the third infusion, the patient presented in table tract marked by profuse watery diarrhea whose explorations reveal a morphological endoscopic appearance of erythematous, ulcerative colitis, reversible upon discontinuation of treatment. Histological data revealed important infiltrates composed mainly of CD8T lymphocytes. CONCLUSION: Gastrointestinal immunological consequences to the requirements of the targeted therapies deserved very careful and rigorous monitoring. However, at the slightest sign of digestive, a detailed morphological exploration is essential, to avoid in particular surgical emergency, evolution without treatment could engage in short-term vital prognosis.

[Durable efficacity and remission after treatment with imatinib mesylate for FIP1L1-PDGFRA transcript negative associated eosinophilic cardiomyopathy]. / Efficacité et rémission durables après traitement par imatinib mésylate pour une cardiomyopathie éosinophilique à transcrit FIP1L1-PDGFRA négatif.

INTRODUCTION: The cardiac involvement in hypereosinophilia remains a major cause of morbidity and mortality. Recent advances have identified new molecular mechanisms responsible for the expansion of the eosinophilic lineage, allowing a better classification of the different forms of Hypereosinophilic syndrome (HES) and especially targeted therapy. Since the discovery of the involvement of deregulated tyrosine kinases in the pathophysiology of these diseases, and particularly the identification of the fusion gene FIP1L1-PDGFRA, new molecules inhibiting specifically this signaling pathway (imatinib) were individualized, leading to dramatic therapeutic benefits in proliferative forms of HES considered before that of very poor prognosis. CASE REPORT: We report here the dramatic effectiveness of imatinib used as second line therapy for dilated cardiomyopathy revealing a hypereosinophilic syndrome in a patient in whom the search for FIP1-L1-PDGFRA fusion gene was negative. CONCLUSION: If hypereosinophilia has varied clinical and morphological outcome, its clinical consequences, particularly on heart function, are sometimes dreadful, and are not correlated either with blood eosinophil levels or with a specific etiology. We report here a case of HES lacking the FIP1-L1-PDGFRA fusion gene showing that despite the absence of this molecular defect, imatinib mesylate may have therapeutic interest in those cases of HES resistant to first line therapies.

[Efficacity of rituximab in hemolytic anemia with cold autoantibodies case]. / Efficacité exemplaire du rituximab dans un cas d'anémie hémolytique à autoanticorps froids.

INTRODUCTION: Autoimmune hemolytic anemia with cold autoantibodies or cold agglutinin disease is a rare chronic disorder in which no treatment has, until now, evidence of its effectiveness. CLINICAL CASE: We report a patient who successfully responded to rituximab for a cold agglutinin disease refractory to conventional therapy with very good tolerance and a complete remission. CONCLUSION: There are only few observations that have been reported in the literature regarding the efficacity of rituximab in the treatment of cold agglutinin disease. This promising therapy could, in the future, constitute a real alternative.

[RACAND syndrome associated with primary biliary cirrhosis]. / Syndrome RACAND associé à une cirrhose biliaire primitive.

The acronym RACAND means the association of Raynaud's phenomenon, anticentromere antibodies and digital necrosis without digital sclerosis. It is a rare syndrome recently individualised. The association with primary biliary cirrhosis has never been previously reported, and leads to discuss its nosology. A 57-year-old woman with a history of Raynaud's phenomenon, presented with recurrent episodes of fingers and toes necrosis. Clinical examination did not evidence digital sclerosis. Anticentromere antibody titer was high. There was no oesophageal or lung involvement. A liver biopsy performed because of moderate increase in liver enzymes showed histological lesions of primary biliary cirrhosis. Treatment with iloprost, platelet aggregation inhibitors and anticalcic drugs could not avoid amputation of several toes. It is possible that anticentromere antibodies are directly toxic to vascular endothelial cells and result in a diffuse or localized vasculopathy. The association with primary biliary cirrhosis is in favour of autoimmune condition of both vascular and ductular endothelial cells.

[Septic pylephlebitis associated with Enterobacter cloacae septicemia]. / Pyléphlébite septique associée à une septicémie à Enterobacter cloacae.

Septic pylephlebitis or purulent thrombosis of the portal venous system generally results from a progressive extension of suppurated thrombophlebitis, secondary to an intrabdominal infection. Germs most often found are Escherichia coli and Streptococcus, isolation of Enterobacter cloacae is unusual. We report a particular observation of septic pylephlebitis associated with E. cloacae bacteremia, without biliary, digestive or pancreatic lesion on the CT-scan. The antibiotic sensitivity pattern of the isolated germ and the negative epidemiologic investigation pled in favour of community acquired infection. The infection resolved with antibiotics and anticoagulation, followed by total repermeation of the portal system.

[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. / Révélation d'une maladie de Mc Ardle par une intolérance musculaire à l'effort associée à une rhabdomyolyse sévère.

McArdle's disease (MAD) is a rare hereditary myopathy secondary to a deficit in myophosphorylase, an essential enzyme for the use of muscular glycogen reserves. Exercise intolerance to a variable degree is the fundamental manifestation. Muscular enzymes are usually normal or slightly elevated, except during episodes of rhabdomyolysis. Generally, the electromyogram has poor sensitivity for the diagnosis of exercise myopathies. The muscular biopsy can be misleadingly normal. The role of MRI in the diagnosis of MAD is not well clarified in the literature. We report the case of a 16-year-old patient, hospitalized in July 2008 for exercise intolerance. On admission, he was asymptomatic and the physical examination was non contributive. Serum creatine kinase levels and renal function measures were normal. Cycloergometer exercise testing unmasked the disease. EMG and muscular biopsies were normal. During the second hospitalization, this time for rhabdomyolysis, T2 weighted MRI of the thighs showed high intensity signals from the gracilis muscles. The control MRI, made after 2 weeks of rest, was normal. Right gracilis muscle biopsy demonstrated excess glycogen with myophosphorylase deficiency, establishing the diagnosis of MAD. MAD is a rare metabolic myopathy to consider in patients with a history of exercise intolerance. The muscle biopsy can be misleadingly normal and should be, to our opinion, be guided by MRI findings.

[Acute recurrent hemolytic anemia as the first manifestation of Wilson's disease: Report of a case]. / Anémie hémolytique récidivante révélatrice d'une maladie de Wilson (une nouvelle observation et revue de la littérature).

INTRODUCTION: The liver and central nervous system are the usual targets of Wilson's disease, an inherited disorder of copper metabolism. Severe hemolytic anemia is an unusual complication of Wilson's disease. EXEGESIS: We report a case of Wilson's disease revealed by acute intravascular repeating hemolytic anemia associated with liver failure. The initially negative etiologic investigation was directed by occurred of liver failure. The genetic study allowed to discover an other similar case. The evolution was favourable under treatment with zinc sulfate and penicillamine. DISCUSSION: Diagnosis of Wilson's disease must be considered in case of acute hemolytic anemia associated with liver failure in young adults.

[Pseudo-tumoral and ischemic encephalic Erdheim-Chester disease]. / Maladie d'Erdheim-Chester cérébrale avec double lésion pseudotumorale et ischémique.

INTRODUCTION: Erdheim-Chester disease (ECD) is a rare non-langerhans cell histiocytosis of unknown etiology. It is a multi-systematic xanthogranulomatous infiltration with almost constant bone involvement; the neurological manifestations are not specific and occur in 15-20% of cases. METHODS: We report the case of a 59-year-old woman hospitalized for a frontal syndrome and right hemiparesis. RESULTS: Imaging revealed a left caudate nucleus process with recent infarct. Cardiovascular involvement and bilateral osteosclerosis of long bones strongly suggested ECD, confirmed after biopsies of the pericardium and bone. CONCLUSION: Pseudo-tumor encephalic ECD is very rare; the caudate nuclei is an unusual localization; ischemic stroke has been exceptionally described. Prognosis depends largely on the involvement of the central nervous and cardiovascular systems.

[Ectasic diffuse vasculopathy of the cerebral arteries associated with neurofibromatosis type 1]. / Vasculopathie ectasiante diffuse des artères cérébrales associée à la neurofibromatose de type 1.

Type 1 neurofibromatosis is the most common of all the phakomatosis. It is a hereditary neurocutaneous syndrome that may involve any organ or system of the body. Central nervous system lesions are frequent and dominated by neoplasms and nonneoplastic hamartomatous lesions. Craniocerebral vascular abnormalities are relatively rare, most often occlusive or stenotic. The occurring of intracranial aneurysms during the neurofibromatosis type 1 gives rise to the question of the fortuitous aspect or not of this association, especially as the quasi-totality of the reported aneurysms in the literature are sacciform and most often unique. We report an original case of ectasic diffuse vasculopathy of the cerebral arteries associated with neurofibromatosis type 1 in a 43-year-old man presented with seizures.

[Humoral hypercalcemia revealing a malignant non hodgkin lymphoma]. / Hypercalcémie humorale révélant un lymphome malin non hodgkinien.

INTRODUCTION: Hypercalcemia is a rare complication of non-Hodgkin lymphoma. Usually, hypercalcemia occurs late in the disease course, except for high-grade lymphoma. Most often hypercalcemia is related to excessive level of circulating PTH-rP or sometimes, 1,25(OH)2D3. Concomitant high plasmatic concentration of PTH-rP and 1,25(OH)2D3 is uncommon. EXEGESIS: We report the case of a 82-year-old man who presented with abdominal pain and weight loss, leading to the diagnosis of diffuse large-B-cell lymphoma (high-grade lymphoma) associated with symptomatic hypercalcemia (3.21mmol/l). PTH-rP and 1,25(OH)2D3 plasmatic levels were high. Calcium concentration was normalized with glucocorticoids and sequential chemotherapy. CONCLUSION: This case report confirms that hypercalcemia, as consequence of excessive plasmatic level of PTH-rP secreted by tumoral cells, can occur early in the course of high-grade lymphoma. Glucocorticoids and chemotherapy are the best treatment options.