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Résumé Introduction Le syndrome de l’homme raide est une pathologie neurologique rare associant une rigidité fluctuante du tronc et des membres et des spasmes musculaires douloureux. Les variants cliniques incluent le syndrome des membres raides où la rigidité ne touche qu’un des membres et l’encéphalomyélite progressive avec rigidité et myoclonies ( progressive encephalomyelitis with rigidity and myoclonus [PERM]), caractérisée par l’association d’une raideur et de spasmes myocloniques avec des signes focaux. Observation Nous rapportons un cas de PERM, chez une patiente âgée de 73 ans, initialement explorée pour une altération de l’état général assortie de douleurs abdominales. Conclusion De par ses présentations cliniques diverses et parfois non neurologiques, le diagnostic de PERM est souvent fait tardivement. La recherche d’anticorps antineuropile dans le sérum et le LCR, et l’aspect de spasmes à l’électromyogramme sans atteinte myogène caractérisent cette pathologie neurologique atypique. Introduction Stiff-person syndrome is rare neurological disease, associating trunk rigidity and painful muscular spasms. A clinical variant of stiff person syndrome is the progressive encephalomyelitis with rigidity and myoclonus (PERM), which includes neurological cognitive disturbances. Case report We report a 73-year-old woman initially addressed for abdominal pain, anorexia and severe weight-loss, for whom diagnosis of PERM was made. Conclusion Because of its various clinical presentations, sometimes without evidence for neurological disease, the diagnosis of PERM is delayed. The presence of antineuropile antibodies associated with muscular spasms at electromyogram are strong evidence for this diagnosis. [ABSTRACT FROM AUTHOR]

Résumé: Propos: L’atteinte aortique dans la maladie de Horton est sous-estimée en raison de son caractère souvent asymptomatique. Les particularités de la maladie avec atteinte aortique sont mal connues et le lien entre l’aortite et les complications vasculaires de la maladie n’est pas démontré. L’objectif principal de cette étude était de comparer les caractéristiques cliniques, biologiques et évolutives d’une série de patients consécutifs atteints de maladie de Horton en fonction de la présence ou non d’une aortite scannographique au diagnostic. L’objectif secondaire était d’évaluer l’apport de la TEP-TDM par rapport à l’angioscanner dans le dépistage de l’atteinte inflammatoire de l’aorte et ses branches, le suivi et la prise en charge thérapeutique des patients. Méthodes: Nous présentons une étude rétrospective portant sur 63 patients présentant une maladie de Horton, diagnostiqués dans les services de médecine interne du CHU de Marseille sur une période allant de 2005 à 2011. Tous les patients inclus présentaient au moins trois des cinq critères de l’ACR et avaient eu un angioscanner thoracoabdominopelvien au diagnostic. Le diagnostic d’aortite était retenu lorsque l’angioscanner objectivait la présence d’un épaississement pariétal aortique circonférentiel, régulier et homogène et supérieur à 3mm d’épaisseur. Résultats: Vingt-six patients sur 63 (41,3 %) avaient une aortite authentifiée par angioscanner. L’âge au diagnostic était significativement plus jeune dans le groupe avec aortite par rapport au groupe indemne d’aortite (66,8 vs 73,8 ans ; p =0,002). Les dorsalgies-lombalgies d’allure inflammatoire, les signes d’atteinte vasculaire aux membres supérieurs, des marqueurs inflammatoires plus élevés ainsi que des lésions ectasiques ou anévrismales de l’aorte étaient significativement associés à la présence de l’aortite. Vingt patients ont bénéficié de façon concomitante d’un angioscanner et d’une TEP-TDM. Aucun diagnostic d’aortite n’a été porté par la TEP-TDM alors que l’angioscanner était normal. Sous corticothérapie, la régression de l’aortite sur l’angioscanner était notée dans les six mois chez tous les patients alors qu’une fixation du 18FDG à la TEP-TDM persistait dans 80 % des cas à six mois et dans deux tiers des cas à un an, sans influencer le traitement. Conclusion: Cette série montre qu’il n’y a pas de caractéristiques spécifiques de l’atteinte inflammatoire de l’aorte et ses branches, justifiant ainsi son dépistage systématique par angioscanner. L’aortite semble être associée au développement de complications vasculaires, comme en témoignent la fréquence des lésions ectasiantes et anévrismales et un cas de dissection aortique précoce observé dans le groupe des patients avec aortite. Au-delà de sa signification pronostique, la fréquence de cette atteinte pourrait en faire une véritable aide au diagnostic de la maladie. Enfin, la place de la TEP-TDM reste à préciser tant pour le dépistage de l’atteinte vasculaire que dans le suivi thérapeutique. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Ischemic cholangitis in intensive care unit is a recently reported liver disease in patients who have had a prolonged mechanical ventilation and vasopressive drug support for multiple organ deficiency. Prognosis is usually poor and the only life-saving therapy is liver transplantation despite ursodesoxycholic acid treatment. Case report: We report a 63-year-old man who presented with a sclerosis cholangitis after a month in intensive care unit, effectively treated with fenofibrate and ursodesoxycholic acid. Recent reports underline fenofibrate efficacy in the treatment of primary biliary cirrhosis, especially in association with ursodesoxycholic acid. This treatment has prevented liver transplantation for our patient with a correct quality of life. Conclusion: The addition of fibrate to ursodesoxycholic acid improves persistent cholestasis in sclerosing cholangitis. [Copyright &y& Elsevier]

Abstract: Systemic sclerosis (scleroderma) is a rare auto immune disease. Its physiopathology, based on various mechanisms, involves a predisposing genetic background and some exogenous factors. Among them, the role of toxic products is highly suggested according to several case-control studies. The aim of this study is to review the literature concerning occupational exposure associated with scleroderma. This review is completed by the results of a self-reported questionnaire on occupational exposures sent to 82 scleroderma patients followed in Marseille. Scleroderma associated with silica exposure should be declared as occupational disease. Moreover, the role of other toxic agents such as solvents is highly suspected and scleroderma occurring in case of high exposure should also be declared. Our study performed in Marseilles showed a occupational exposure in 10% of cases (five patients having an occupational exposure that could be involved in the genesis of the disease). One had an occupational silica exposure and was declared as occupational silica disease. Other cases had various toxic exposures including solvents and two were declared as disease of occupational nature. Occupational exposure (labour and leisure) must be searched for when faced with a scleroderma patient for two reasons: the possible declaration of an occupational disease and a better knowledge on toxics involved in scleroderma. [Copyright &y& Elsevier]

Objectives: To identify the prognostic markers of a bad outcome in a large population of 104 patients with prosthetic valve endocarditis (PVE), and to study the influence of medical versus surgical strategy on outcome in PVE and thus to identify patients for whom surgery may be beneficial. Design: Multicentre study. Methods and results: Among 104 patients, 22 (21 %) died in hospital. Factors associated with in-hospital death were severe co-morbidity (6% of survivors v 41 % of those who died, p = 0.05), renal failure (28% v 45%, p = 0.05), moderate to severe regurgitation (22% v 54%, p = 0.006), staphylococcal infection (16% v 54%, p = 0.001), severe heart failure (22% v 64%, p = 0.001), and occurrence of any complication (60% v 90%, p = 0.05). By multivariate analysis, severe heart failure (odds ratio 5.5) and Staphylococcus aureus infection (odds ratio 6.1) were the only independent predictors of in-hospital death. Among 82 in-hospital survivors, 21(26%) died during a 32 month follow up. A Cox proportional hazards model identified early PVE, co-morbidity, severe heart failure, staphylococcus infection, and new prosthetic dehiscence as independent predictors of long term mortality. Mortality was not significantly different between surgical and non-surgical patients (17% v 25%, respectively, not significant). However, both in-hospital and long term mortality were reduced by a surgical approach in high risk subgroups of patients with staphylococcal RYE and complicated RYE. Conclusions: Firstly, RYE not only carries a high in-hospital mortality risk but also is associated with high long term mortality and needs close follow up after the initial episode. Secondly, congestive heart failure, early RYE, staphylococcal infection, and complicated PYE are associated with a bad outcome. Thirdly, subgroups of patients could be identified for whom surgery is associated with a better outcome: patients with staphylococcal and complicated PVE. Early surgery is strongly recommended for these patients. [ABSTRACT FROM AUTHOR]

Introduction. – Ictero-hemorrhagic leptospirosis is an endemic disease in France. Weil''s disease, a form of leptospirosis, is well known. Fort Bragg fever is characterized by a constant pretibial papular lesion. First described in the USA, this non icteric form of leptospirosis is usually benign. We report the first French case of a mixed form of leptospirosis.Exegesis. – A 52-year-old man living in South East France suffered from fever and myalgias associated with a pretibial papular lesion. A severe icterus appeared and permitted a diagnosis of leptospirosis.Conclusion. – Our case recalls the clinical presentation of Fort Bragg fever, which is recognized through its inflammatory pretibial lesion associated or not with icterus. [Copyright &y& Elsevier]

Introduction. – Palpation of soft tissues constitutes part of the physical examination when faced with a patient with fever of unknown origin. Our case highlights the difficulty of diagnosis when the tumor still remains impalpable ten months after onset of fever and severe biological inflammatory process.Exegesis. – A 49-year-old woman was admitted for fever of unknown origin associated with important biological inflammatory process. In view of her past medical history of breast carcinoma, a search for a relapse was performed and remained negative. Despite multiple investigations and repeated physical examinations, no diagnosis was obtained. Finally, [(18)F] fluorodoexyglucose positron emission tomography led to a diagnosis showing a high fixation located in the right thigh, related to a myxoid liposarcoma after surgical resection.Conclusion. – Dramatic regression of fever and biological inflammatory process after surgical treatment illustrates the concept of “small tumor and fever of unknown origin”, an exceptional entity but which physicians should be aware of. The role of new technical imaging with [(18)F] fluorodoexyglucose positron emission tomography has however to be clarified in the evaluation of fever of unknown origin. [Copyright &y& Elsevier]

Purpose. – Prothrombin gene mutation G20210A (factor II) is, in frequency, the second genetic polymorphism involved in venous thrombosis. We report a retrospective studies on 38 patients issued from our medical department, all heterozygous for the factor II mutation and a literature review.Methods. – We have studied 38 patients, all heterozygous for the factor II mutation, selected through a population of 516 tested patients issued from our medical department from 1997 to 2002. The research was performed face with history of thrombotic or obstetrical events, angiopathy or familial screening.Results. – Twenty out of thirty-eight patients have at least one episode of venous thrombosis: superficial thromboses, deep thromboses and/or pulmonary embolism. One case of cerebral thrombophlebitis is observed. Venous thrombotic risk factors are associated in 12 cases (60%). Four out of thrity-eight patients have one episode of arterial thrombosis: cardiovascular, peripheral or cerebral. Arterial thrombotic risk factors are associated in all cases. Median age of the first venous thrombosis is earlier than the one of arterial thrombosis (39.11 versus 49.25 years).Conclusion. – Our studies confirms the interest to search the prothrombin gene mutation when faced with a venous thrombotic event (deep vein thrombosis and/or pulmonary embolism) with or without acquired risk factors. Its involvement in thrombotic arterial disease is still a matter of debate. Data concerning its involvement in systemic diseases and angiopathies (thromboangeitis obliterans, Raynaud''s phenomenon and migraine) are still needed. Mechanisms of thromboses could be an increase of prothrombin plasma level with high thrombin synthesis. [Copyright &y& Elsevier]

Purpose: To contribute to the knowledge of epidemiologic and clinical features of patients hospitalized with Q fever in France.Methods: We conducted a retrospective analysis of 22,496 sera submitted between 1982 and 1990 to the French National Reference Center for Rickettsial Diseases (NRC). The diagnosis of acute Q fever was based on an IgG titer greater than or equal to 1:200 and an IgM titer greater than or equal to 1:25 against phase II Coxiella burnetii antigen on an indirect immunofluorescence test (IFA). Fifteen cases prior to 1985 were diagnosed on the basis of a complement fixation titer greater than or equal to 1:8. A serosurvey of blood donors from Marseille was also conducted in 1988 on 924 sera, using IFA with a cutoff titer of 1:25.Results: The serosurvey conducted in 1988 showed a seroprevalence of 4.03%, without age or sex prediction. The incidence rate of acute Q fever detection at the NRC was 0.58 per 100,000 inhabitants over the 9-year period. Three hundred twenty-three clinical cases were diagnosed, rising from 1 in 1982 to 107 in 1990. In patients hospitalized for acute Q fever, there was a significantly higher sex ratio of males to females (2.3), which, coupled with the age distribution, indicated that elder males, who are overrepresented due to our recruitment bias, are more susceptible to C. burnetii infections. The mean age of the patients was 45.5 years, while the risk was increased in the 30 to 39 age group as well as in the 60 to 69 age group. Usual epidemiologic risk factors were found in 20.1% of the cases. Hepatitis (61.9%) was a more common clinical presentation in our patients with Q fever than pneumonia (45.8%). This might reflect differences in strains of C. burnetii or the biology of the host. However, French farmers and stock breeders commonly drink unpasteurized raw milk from their cattle, which might indicate a relationship between hepatitis and infection via the digestive tract.Conclusion: Our results indicate that many cases of acute Q fever are undiagnosed. A greater awareness of the disease and more extensive serologic testing of patients with symptoms compatible with Q fever may improve the situation. [ABSTRACT FROM AUTHOR]

Introduction: ANCA vasculitis may involve the skin and develop slowly without specific histology, and without autoantibodies. Case report: We report a 50-year-old woman who experienced bilateral mastectomy because of ulcero-necrotic, non-specific inflammatory cutaneous lesions of the breasts. First considered by others as a malinger patient, she developed oto-neurological lesions leading to the diagnosis of Wegener's granulomatosis. Five years later, specific antibodies of the disease were present. Conclusion: Cutaneous involvement by ANCA vasculitis can be isolated for a long time. Physicians must have a high degree of suspicion to avoid diagnostic delay of ANCA vasculitis. [ABSTRACT FROM AUTHOR]

Visceral leishmaniasis or Kala-azar is an endemic parasitic infection in Mediterranean countries. We report an interesting case occurring in a 38-year-old woman suffering from systemic lupus erythematosus and secondary antiphospholipid syndrome. In our patient visceral leishmaniasis occurred during high dose-steroids treatment mimicking a flare of lupus. As the lupus resolved under immunosuppressive treatment, a reactivation of visceral leishmaniasis was observed and was confirmed by the successive serological tests which showed crossing of leishmania and antinuclear antibody titers. Our case shows that, faced with fever occurring in lupus patients in an endemic area, visceral leishmaniasis should be searched for before intensifying immunosuppressive treatments. Lupus (2000) 9, 548–550. [ABSTRACT FROM AUTHOR]

Introduction Nous présentons une observation de lésion bulleuse sur le sein reconstruit. Observation Une patiente de 50 ans est adressée pour l’exploration d’une ulcération mammaire majeure du sein gauche, évoluant depuis 1 mois. Dans ses antécédents, on note un sarcome granulocytaire ou chlorome du sein gauche survenu dans les suites d’une chirurgie esthétique en 2005 et traité par chirurgie et radiochimiothérapie. En 2009, une rechute survient au niveau du sein controlatéral, traitée par chimiothérapie, mastectomie puis transplantation de cellules souches hématopoïétiques après une deuxième rémission complète. En 2012, la patiente bénéficie d’une reconstruction mammaire bilatérale avec changement de prothèse en octobre 2014. En 2015, elle présente une ulcération mammaire post-bulleuse très lente à cicatriser. L’interrogatoire va révéler au moins 4 épisodes d’ulcérations du même type, se manifestant sous forme de lésion bulleuse initialement volumineuse, récidivant au niveau des cicatrices des gestes précédents et évoluant vers des ulcérations de cicatrisation lente. Les évènements antérieurs et l’aspect clinique sont inquiétants et justifient un approfondissement séméiologique. Le bilan biologique est sans particularité et n’est pas en faveur d’une dermatose bulleuse auto-immune. Devant le caractère traînant de cette ulcération majeure, une récidive de la maladie initiale aurait pu être suspectée. C’est l’interrogatoire de la patiente qui va donner le diagnostic. La patiente signale que les prothèses chauffent anormalement, même lors d’expositions solaires modérées. Ce caractère rythmé par les expositions solaires fait évoquer le diagnostic de brûlure mammaire sur sein reconstruit. La recherche bibliographique retrouve des cas identiques. L’efficacité spectaculaire du traitement prophylactique, consistant à humidifier les soutiens gorges lors des expositions à la chaleur, permet de retenir ce diagnostic. Discussion Les brûlures sur seins reconstruits sont des entités rares et peu décrites dans la littérature [1] . Il a surtout été décrit des cas de brûlures thermiques par contact direct. Quelques cas de brûlures du sein reconstruit après exposition solaire directe ont également été rapportés. Cependant, peu de cas ont été décrits de survenue lors d’exposition solaire de courte durée et lors du port de vêtements noirs. Un des mécanismes évoqués est un défaut de thermorégulation locale. Comme dans notre observation, toutes les patientes avaient eu un antécédent de radiothérapie et celle-ci pourrait avoir un rôle aggravant, notamment en perturbant l’équilibre vasculaire local. Notre cas clinique survient dans un contexte complexe d’antécédent de sarcome granulocytaire et d’allogreffe. Ceci a conduit à ne considérer ce diagnostic qu’après avoir éliminé une récidive de la maladie initiale. Conclusion Le diagnostic de brûlure sur sein reconstruit est une entité rare mais qui doit être évoqué après élimination d’une récidive de la maladie initiale. L’évolution peut-être rapidement favorable avec les mesures prophylactiques visant à limiter l’exposition solaire et à la chaleur, surtout avec le port de vêtements noirs. Il est important de savoir penser à ce diagnostic car les conséquences de ces brûlures peuvent être graves et conduire à la perte de la reconstruction. [ABSTRACT FROM AUTHOR]

A pinguecula is a small, raised conjunctival nodule at the temporal or nasal limbus classically associated with conjunctival microtrauma from exposure to sunlight and/or to dust. We report two cases occurring during the course of Sjögren's syndrome. To our knowledge this association has never been described. [ABSTRACT FROM AUTHOR]

Emphysematous cystitis (EC) is a rare condition in which gas-forming organisms are active in the bladder wall and lumen. Most of the cases have been described in patients suffering from diabetes mellitus due to glucosuria and subsequent anaerobic fermentation of glucose. To our knowledge this condition has never been described in association with systemic lupus erythematosus (SLE). We report here the first case of EC during the course of a chronic lupus cystitis (LC) in a woman suffering from SLE and type-I diabetes mellitus. Lupus (2000) 9, 72–73 [ABSTRACT FROM AUTHOR]