Syndrome de Cogan.

"Typical" Cogan's syndrome is defined as a non-syphilitic interstitial keratitis associated with audio-vestibular resembling Ménière's disease with a 2-year maximum delay between these 2 organ impairment. Cogan syndrome is classified as "atypical" in the absence of interstitial keratitis and the presence of other inflammatory eye manifestations, an audio-vestibular impairment different from typical Menière-like disease, or a delay longer than 2 years between eye and audio-vestibular manifestations. Constitutional signs and large-vessel vasculitis is also possible, mostly affecting the thoracic aorta. The presence of acute-phase reactants is common, but no specific laboratory tests are available. The prognosis is dominated by the audio-vestibular impairment and in particular the risk of deafness, while other complications especially vascular complications being rare. Treatment with glucocorticoids is usually necessary and the combination to other immunosuppressive therapies or biological-targeted drugs needs to be determined.

[Diagnostic approach of recurrent fevers of unknown origin in adults]. / Démarche diagnostique des fièvres récurrentes prolongées chez l'adulte.

Recurrent fever of unknown origin is probably the most difficult to diagnose subtype of fever of unknown origin. It represents between 18 and 42% of the cases in large series of patients with fever of unknown origin. The limited literature data do not allow one to construct a diagnostic algorithm. However, the diagnostic strategy is different from classic fever of unknown origin. The spectrum of causative disorders is different from continuous fever with less infections and tumors. Among systemic inflammatory diseases, adult-onset Still's disease is the most common cause. More than 50% of the cases remain unexplained. Hereditary recurrent fevers, the prototype of autoinflammatory diseases, are now more easily discuss in a young adult.

[Unexplained, subclinical chronically elevated transaminases]. / Élévation modérée, persistante et inexpliquée des transaminases.

Unexplained, subclinical chronically elevated transaminases is mainly a marker of non-alcoholic fatty liver disease, metabolic syndrome, alcoholism and diabetes, which are very common situations but viral hepatitis and iatrogenic origin must also be considered. Before looking for hepatic or genetic rare diseases, it is worth considering hypertransaminasemia as a clue for muscular disease, particularly in paediatric settings, and creatine phosphokinase is a specific marker. Then, patient history, examination and appropriate biologic requests can permit the identification of less frequent disorders where isolated hypertransaminasemia is possibly the unique marker of the disease for a long while: hemochromatosis, celiac disease, autoimmune hepatitis, Wilson's disease, α1-anti-trypsine deficiency, thyroid dysfunctions, Addison's disease. Liver biopsy should be performed only in patients with aspartate aminotransferases upper the normal range or alanine aminotransferases higher than twice the normal range after 6 months delay with dietetic corrections.

Multidimensional analysis of clinical symptoms in patients with Fabry's disease.

AIM: Fabry's disease is an X-linked inherited lysosomal storage disorder caused by the deficient activity of alpha-galactosidase A. The interrelationships between clinical symptoms in Fabry patients have not yet been fully established. Using cluster and multivariate analysis, the aim of the study was to determine the relationships among clinical symptoms and organ involvement, and predictive clinical symptoms for disease severity. METHODS: Clinical data obtained from 108 French Fabry patients were retrospectively collected and analysed using multiple correspondence analysis and hierachical ascendant classification. Multivariate analysis was also performed to determine among clinical symptoms predictors for cardiac disease (HRT), renal involvement (KDN) and brain complication (STR). RESULTS: The cohort comprised 41 male patients (aged 28.9 ± 11.6 years) and 67 female patients (aged 40.4 ± 15.5 years). Three main clusters of clinical symptoms could be delineated, characterising disease progression: the first cluster grouped digestive disorders (found in 30% of the patients) and exercise intolerance (32%), the second, cluster dyshidrosis (47%), acroparesthesia (67%), angiokeratoma (44%) and cornea verticillata (54%), the third, cluster grouped KDN (30%), HRT (39%) and STR (25%) and hearing loss (44%). In univariate analysis, the patient age predicted HRT and KDN, dyshidrosis predicted HRT and STR, angiokeratoma predicted KDN and cornea verticilla and hearing loss predicted KDN, HRT and STR. In multivariate analysis, hearing loss and age were independent predictors of organ complication. CONCLUSION: Among the various interrelated clinical symptoms occurring in Fabry disease, patients with dyshidrosis and particularly hearing disorders appear to be at higher risk of organ complications.

Safety and efficacy of rituximab in nonviral cryoglobulinemia vasculitis: data from the French Autoimmunity and Rituximab registry.

OBJECTIVE: Management of nonviral cryoglobulinemia vasculitis has yet to be defined. Rituximab has emerged as a novel and promising therapeutic alternative, but data are scarce. Our objective was to evaluate the safety and efficacy of rituximab in nonviral cryoglobulinemia vasculitis in off-trial real-life patients. METHODS: Prospective data from the French AutoImmunity and Rituximab (AIR) registry, which includes data on patients with autoimmune disorders treated with rituximab in off-label conditions, were analyzed. RESULTS: Twenty-three patients received treatment with rituximab for cryoglobulinemia vasculitis. Tolerance was marked by the occurrence of side effects in almost half of the patients, including severe infections in 6 (26%) of 23, with a rate of 14.1 per 100 patient-years. These infections occurred in a particular subset of patients ages>70 years, with essential type II mixed cryoglobulinemia and renal failure with a glomerular filtration rate of <60 ml/minute, and receiving high-dose corticosteroids. Three of these patients died. In contrast, clinical and immunologic efficacy was noted in all evaluable patients. Clinical relapses occurred in half of the patients after a median time of 13.5 months following rituximab administration, and were more frequent in patients refractory to previous immunosuppressive therapy than in previously untreated patients. CONCLUSION: Data from the AIR registry show a dramatic efficacy and a steroid-sparing effect of rituximab, but also show the occurrence of severe infections in elderly patients with renal failure and high-dose steroids. The role of rituximab in nonviral cryoglobulinemia vasculitis remains to be defined in well-designed randomized controlled trials.

[Rhabdomyolysis with major hypokalemia secondary to chronic glycyrrhizic acid ingestion]. / Rhabdomyolyse liée à une hypokaliémie profonde par intoxication chronique à la glycyrrhizine.

Intoxication by glycyrrhizic acid is a well-known cause of the apparent mineralocorticoid excess syndrome. It causes hypokalemia by inhibiting the enzyme 11-beta-hydroxysteroid dehydrogenase. We report a case of hypokalemic rhabdomyolysis secondary to chronic glycyrrhizic acid intoxication.

[Hypocomplementemic urticarial vasculitis]. / Vascularite urticarienne hypocomplémentémique.

Hypocomplementemic urticarial vasculitis is a rare disorder characterized by the presence of C1q precipitins associated with a syndrome of urticarial vasculitis, arthralgias, ocular inflammation and obstructive-lung disease. We report the case of a 48-year-old woman with hypocomplementemic urticarial vasculitis. Because of dependance to corticosteroids, cyclophosphamide-pulse therapy was started and resulted in significant clinical improvement. Mycophenolate mofetil was effective as maintenance therapy and resulted in complete resolution of rash, arthralgias, arthritis and uveitis, but had no effect on the obstructive-lung disease.

[Lupus profundus and myelopathy]. / Lupus profond et myélopathie.

BACKGROUND: We report a case of myelopathy during the course of lupus profundus that is unique to our knowledge. CASE-REPORT: A 29-year-old woman had lupus profundus since 1999, initially associated with thrombopenia (28,000 platelets/mm3) treated with corticosteroids for 6 months. Several nodular eruptions occurred from 1999 to 2004. Antinuclear antibodies were positive at 1/320 to 1/640 and complement C4 fraction was low. While being treated with hydroxychloroquine for a recent flare-up of nodular lesions of lupus profundus, she complained of paraesthesia of the abdominal wall and of the upper and lower limbs, suggestive of a medullary lesion. MRI disclosed an image of acute myelitis at the level of the second cervical vertebra. High doses of corticosteroids were promptly administered intravenously (methylprednisolone bolus) followed by oral prednisone and hydroxychloroquine. Six months later the patient was free of neurologic or cutaneous symptoms. DISCUSSION: In the literature, systemic signs are rarely associated with lupus profundus and myelitis has never been reported. Lupus myelitis is a vascular and/or demyelinating and usually segmental lesion of the spinal cord. Neurologic symptoms are those of acute rather than chronic or recurrent transverse myelitis. The prognosis is poor with frequent and severe functional sequelae. Treatment is mainly based on high-dose systemic corticotherapy alone or combined with cyclophosphamide. Our patient responded favourably to early methylprednisolone bolus followed by oral corticosteroids and antimalarial treatment. CONCLUSION: Lupus profundus is classically of benign course with only cutaneous involvement, but it may sometimes be a sign of systemic lupus and in rare cases may be associated with severe complications.

[Hypereosinophilic syndrome and orbital inflammatory pseudotumor]. / Syndrome hyperéosinophilique associé à une pseudo-tumeur inflammatoire orbitaire.

INTRODUCTION: Idiopathic hypereosinophilic syndrome is defined by the combination of persistent eosinophilia and evidence of tissue damage. It is a diagnosis of exclusion. CASE: We report the case of a 53-year-old man with idiopathic hypereosinophilic syndrome associated with an orbital inflammatory pseudotumor. Therapy with corticosteroids rapidly decreased the number of circulating eosinophiles; the orbital inflammatory pseudotumor regressed at the same time. DISCUSSION: This is the first report of idiopathic hypereosinophilic syndrome associated with an orbital inflammatory pseudotumor.

[Sarcoidosis presenting as an intrascrotal mass]. / Masse intrascrotale révélatrice d'une sarcoïdose.

INTRODUCTION: Sarcoidosis is a multisystem disorder that rarely involves the genitourinary tract. CASE: A 35-year-old man had intrascrotal extratesticular mass. Surgical exploration found noncaseating granulomatous inflammation. After the CT scan revealed mediastinal lymphadenopathy and splenomegaly, we diagnosed sarcoidosis. The patient responded rapidly to corticosteroids. DISCUSSION: Intrascrotal sarcoidosis is an unusual differential diagnosis for an intrascrotal mass. Histological testing is necessary to diagnose noncaseating granulomas. Other granulomatous diseases must be ruled out. Corticosteroid treatment is indicated only for symptomatic sarcoidosis with diffusion of granulomatous lesions and involvement of vital organs.

[Aortitis after G-CSF injections]. / Aortite après injections de G-CSF.

INTRODUCTION: Aortitis consists in aortic wall inflammation from infectious or non infectious cause. It may lead to aortic aneurysm with a risk of rupture, which is life-threatening and may justify surgical procedures. The cause of the aortitis is sometimes obscure. CASE REPORT: We report the case of a 55 years old woman who developed acute aortitis of the descending aorta after G-CSF (granulocyte-colony stimulating factor) injections for blood stem cells graft. No cause was found to the aortitis, the evolution was favorable after corticosteroid treatment, without aneurysm at six months. CONCLUSION: The present case rises the question of G-CSF (Neupogen responsibility in aortic lesions. Neutrophilic mediated diseases (Sweet's syndrome, pyoderma gangrenosum) and leukocytoclastic vasculitis were reported after G-CSF therapy. Neutrophils induced by G-CSF injections present functional abnormalities which may play a role in the pathogenesis of these diseases.

Endometrial mesodermal mixed tumor occurring after tamoxifen treatment: report on a new case and review of the literature.

BACKGROUND: Anti oestrogenic treatment is widely used for breast cancer treatment and prevention of recurrence. Because of concomitant estrogenic effects, tamoxifen exerts carcinogenic properties on the endometrium. Although secondary endometrial cancers usually present as pure adenocarcinomas, other types of rare tumors have also been reported. PATIENTS AND METHODS: Herein we describe the clinical, pathological as well as therapeutic aspects of a new case of endometrial mesodermal mixed tumor occurring after long-term tamoxifen therapy. RESULTS: The present case occured five years after cessation of a five years tamoxifen treatment. The patient failed to respond to doxorubicin and cyclophosphamide when combined to 5-fluorouracil (5-FU), but she reached complete response when the same two drugs were used with carboplatin, suggesting the potential usefullness of platinum derivatives. CONCLUSIONS: A longer latency period might be observed for endometrial mesodermal mixed tumors as compared to adenocarcinomas and could justify a prolonged clinical and ultrasonographic follow-up of patients during and after tamoxifen treatment. When indicated, chemotherapy might require the use of platinum derivatives in this particular type of secondary tumor.

[Myelopathy revealing lupus. Two cases and review of the literature]. / Myélopathie révélatrice d'un lupus. Deux observations et revue de la littérature.

INTRODUCTION: Myelopathy is a rare manifestation of systemic lupus erythematosus, occurring most often during the course of the disease. EXEGESIS: We report two cases of women with myelopathy as the first manifestation of systemic lupus erythematosus; both had an unusual course. We review the literature for previously reported cases. CONCLUSION: The clinical presentation of myelitis is heterogeneous. Usually, neurologic deficits evolve within a few hours (typically acute transverse myelitis) and outcome is usually poor. However, chronic or recurrent transverse myelitis has also been reported, including relapsing myelitis that resolved spontaneously. Myelopathy can be the first manifestation of the disease and this might be more common than initially thought. Magnetic resonance imaging (MRI) findings depend on the timing of the examination and the stage of the disease; the MRI may therefore be normal. An association with optic neuritis is frequently reported in the literature and differential diagnosis with multiple sclerosis may be difficult. Overlapping features between both diseases have been termed "lupoid sclerosis" and are actually classified as demyelinating syndromes associated with lupus. Myelopathy does not appear to be consistently associated with antiphospholipid antibodies, as has been previously suggested. The best treatment protocol has not been determined; however, in recent years, pulses of methylprednisolone and cyclophosphamide have gained acceptance by most authors.