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Gaucher disease type 1 (GD1), results in a range of skeletal complications including osteopenia, osteoporosis, and osteonecrosis, but there is little published information regarding vertebral fractures. Findings from this observational study indicated that the prevalence of vertebral fractures in a cohort of adult French GD1 patients is approximately 15%. The aim of the study was to assess the prevalence and characteristics of vertebral fractures in a cohort of adult patients with GD1. This study was performed in adult patients with GD1 based on a detailed and complete clinical examination. For all patients for whom vertebral fractures were reported, a specific questionnaire was sent to physicians, and imaging data were collected, when available, for centralized analysis. Data were collected from a total of 105 adult GD1 patients. Bone complications were reported in 85% of patients, among whom vertebral fractures were diagnosed in 16 (15%); seven women and nine men (mean age, 45 years). We observed five patients with multiple vertebral fractures and one patient in whom the T3 vertebra was fractured. Most of these patients did not report fracture-related back pain. The prevalence of vertebral fractures in this cohort of adult patients with GD1 was 15%. Greater awareness of the natural history of vertebral fractures in GD1, and rigorous monitoring of bone fragility and spine involvement in affected patients, should allow earlier detection and initiation of treatment tailored toward improving bone status.

Links between Takayasu's arteritis (TA) and tuberculosis are discussed in the literature. We report the case of a Caucasian woman who was first seen for a regressive fever, associated with a normal clinical and chest and abdominal CT-scan examination. A minor granulomatous hepatitis was documented. She had no symptoms for the following four years. A second episode of persisting fever led to the diagnosis of simultaneous occurrence of diffuse TA and severe disseminated tuberculosis. Both affections were treated and the patient was still in good health after three years of follow-up. Simultaneous occurrence of both diseases in our observation supports evidence for a relationship between those two granulomatous diseases.

Resume Introduction. – La leptospirose icterohemorragique est une anthropozoonose endemique en France. La forme clinique la plus connue est la forme de Weil's. La fievre de Fort Bragg comporte une lesion cutanee papuleuse pretibiale caracteristique. Decrite initialement aux Etats-unis, elle constitue une forme souvent benigne et habituellement non icterique de leptospirose. Nous rapportons le premier cas francais empruntant des signes cliniques a ces deux formes. Exegese. – Un homme, âge de 52 ans vivant dans le Var, developpait un syndrome pseudogrippal severe associe a une lesion papuleuse erythemateuse pretibiale. L'evolution etait marquee par l'apparition d'un ictere severe dont l'exploration concluait a une leptospirose. Conclusion. – Le cas de notre patient rappelle la forme clinique particuliere de leptospirose qu'est la fievre de Fort Bragg. Cette derniere doit etre reconnue devant une lesion inflammatoire pretibiale febrile avec ou sans evolution icterique.

We report 2 patients who had sarcoidosis with skin involvement associated with bilateral anterior uveitis. During the follow-up, they developed chronic myelomonocytic leukemia. This association is of particular interest as sarcoidosis and chronic myelomonocytic leukemia may be considered as disorders of a common monocyte-macrophage cell lineage.

Occupational exposure to vinyl chloride monomers is known to induce Raynaud's phenomenon, periportal fibrosis, liver angiosarcoma and scleroderma-like syndrome. We report the first case of occupational polymyositis in a 58-year-old man exposed to vinyl chloride. A dysimmune process was strongly suspected as having induced vinyl chloride disease. Our patient had an anti-histidyl-t-RNA-synthetase (Jo1) antibody, which has never to our knowledge been reported in this occupational disease.

Resume Introduction. – L’incidence de l’atteinte clinique du systeme nerveux au cours de la sarcoidose est estimee a environ 5 % des cas et comprend l’atteinte du systeme nerveux central, des meninges, des nerfs crâniens et des nerfs peripheriques. En dehors des tableaux neurologiques deficitaires, des troubles cognitifs peuvent etre observes et vont de la simple plainte mnesique au tableau de demence severe. Exegese. – Nous rapportons un cas de neurosarcoidose chez une femme âgee de 40 ans, d’origine reunionnaise, de localisation initiale meningee et hypophysaire. Trois ans plus tard, alors que la patiente etait sous cortisone a faible dose et methotrexate per os, survenaient des troubles psychiatriques (bouffee delirante aigue) associes a des troubles cognitifs de type frontal et des troubles severes du comportement. Apres deux ans de traitement par corticoides par voie intraveineuse a fortes doses associe a de l’hydroxychloroquine, le tableau neurologique s’est ameliore avec une regression des troubles du comportement permettant une reinsertion sociofamiliale. Conclusion. – Notre observation se caracterise par la presentation neurologique centrale revelatrice de la maladie, la diffusion des lesions touchant les meninges, les nerfs crâniens et le systeme nerveux central et enfin par les troubles psychocomportementaux graves d’evolution lentement favorable sous bolus de methylprednisolone et hydroxychloroquine.

Resume Introduction. – La fievre des safaris ou fievre de primo-invasion bilharzienne, decrite initialement au Japon sous le nom de fievre de Katayama, est une reaction immunoallergique toxemique liee a la presence dans les vaisseaux de l’organisme de cercaires infectantes. Nous rapportons le cas collectif de sept jeunes touristes en vacances au Mali. Exegese. – Une jeune fille de 18 ans presente une fievre cephalalgique au retour du pays Dogon (au sud du Mali). Apres avoir elimine un paludisme et devant la notion d’une baignade en eau douce suivie de prurit, une fievre des safaris est evoquee et confirmee. L’alerte a alors ete donnee aupres des autres membres du groupe. Ainsi tous ont pu etre traites afin d’eviter le passage a la chronicite de cette bilharziose. Conclusion. – Cette observation rappelle que le risque bilharzien occasionne par une baignade en eau douce en zone d’endemie est une realite. La prophylaxie repose sur l’education des voyageurs. La fievre des safaris, lorsqu’elle survient, est un vrai signal d’alerte car correctement interpretee, permet d’eviter le passage vers une bilharziose chronique.

Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic. We performed a national cross-sectional observational survey—the French Observatoire on Gaucher Disease (FROG)—in patients with GD1 between March 2005 and September 2006. The study included all patients over 18 years of age with confirmed GD1 who attended participating centers for regular follow-up. One hundred and five patients were included, in whom we studied the prevalence and characteristics of relevant neurological symptoms associated with the neuraxis. Of these, 51 (49%) GD1 patients presented at least one neurological symptom. Four patients (4%) had Parkinson disease and 22 (21%) presented with at least one parkinsonian sign or at least one sign frequently associated with Parkinson disease. Five patients (5%) had a previous diagnosis of peripheral neuropathy. Other central nervous system symptoms were recorded in 20 (19%) patients and other peripheral nervous system symptoms in 39 (37%) patients. These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations.

Links between Takayasu's arteritis (TA) and tuberculosis are discussed in the literature. We report the case of a Caucasian woman who was first seen for a regressive fever, associated with a normal clinical and chest and abdominal CT-scan examination. A minor granulomatous hepatitis was documented. She had no symptoms for the following four years. A second episode of persisting fever led to the diagnosis of simultaneous occurrence of diffuse TA and severe disseminated tuberculosis. Both affections were treated and the patient was still in good health after three years of follow-up. Simultaneous occurrence of both diseases in our observation supports evidence for a relationship between those two granulomatous diseases.

Acute schistosomiasis, called safari's fever in Africa and Katayama fever in Japan, is an immunoallergic reaction due to transcutaneous penetration of infective cercaria. We report the collective case of seven young adults spending holidays in Mali.An eighteen years-old girl presents fever, headache, diarrhoea and abdominal pains at return from Dogon country (south of Mali). After turned down malaria and with the notion of bathing in fresh water followed by pruritus, we think to safari's fever. So we alarm all other members of the group. All can be treated to avoid chronic schistosomiasis.These observations recall that acute schistosomiasis is a real danger for tourists when bathing in fresh water in endemic areas of Africa. Education of travellers is necessary. Occurrence of safari's fever should alert physicians to prevent chronic schistosomiasis.

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.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.Our case recalls the clinical presentation of Fort Bragg fever, which is recognized through its inflammatory pretibial lesion associated or not with icterus.

We report 2 patients who had sarcoidosis with skin involvement associated with bilateral anterior uveitis. During the follow-up, they developed chronic myelomonocytic leukemia. This association is of particular interest as sarcoidosis and chronic myelomonocytic leukemia may be considered as disorders of a common monocyte-macrophage cell lineage.

Gamma/delta T lymphocytes constitute a singular population due to their particular antigenic recognition and their localization inside the epithelium. Their functions are complementary to those of the alpha/beta T-cells and they are involved in the defense and regulation of the immune system. Their role in human diseases is not very well understood and the aim of our study was to analyze a population of patients with a peripheral gamma/delta T-cell lymphocytosis.The study included 55 patients, recruited from 1997 to 2000, with a peripheral gamma/delta T lymphocytosis (defined by a proportion of gamma/delta T-cells of over 10% of total peripheral T lymphocytes). Analysis of the lymphocyte population was obtained by cytometry after peripheral blood sampling.Three main groups of diseases were observed: infectious diseases (viral infections and tuberculosis), inflammatory diseases (sarcoidosis and autoimmune diseases) and blood diseases (monoclonal gammopathies and hemopathies). Persistence of gamma/delta T lymphocytosis was dependent on the underlying disease (transitional when associated with an infectious disease and lasting when associated with sarcoidosis). The rest of the immunophenotyping analysis was usually normal.Our results confirm the data published in the literature concerning the role of the gamma/delta T lymphocytes in infectious, inflammatory and autoimmune diseases and neoplasias. These data are in agreement with the cytotoxic and regular functions of these lymphocytes.

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.

Neurological involvement is observed in 5% of cases of sarcoidosis and includes impairment of the central nervous system, the meninges, and the cranial and peripheral nerves. Besides neurological defects, cognitive impairment may be encountered ranging from isolated memory defect to dementia.We report a case of neurosarcoidosis occurring in a 40-year-old woman, a native of Reunion Island, with initial meningeal and hypophyseal involvement. Three years later, while treated with low dose prednisolone and methotrexate, she presented a paranoid state associated with cognitive impairment of frontal type and severe behavioral disturbances. After 2 years of high dose steroid treatment associated with hydroxychloroquine, her behavioral status improved, allowing social and familial reinsertion.In our observation, sarcoidosis was revealed through a central neurological impairment, with chronic meningitis, facial nerve palsy, and, finally, through psychiatric symptoms and severe behavioral disturbances. A slow favorable outcome was obtained using high dose methylprednisolone and hydroxychloroquine with total regression of behavioral disturbances but with persisting cognitive alteration.

We report a case of hypocomplementemic urticarial vasculitis heralding a relapsing polychondritis in a 63-year-old woman. The patient, who had suffered in the past from polymyalgia rheumatica, suddenly experienced a generalized urticarial eruption with a dramatic decrease in C4 complement fraction and the presence of anti-C1q antibodies. Two months later, an ear chondritis occurred and the patient rapidly responded to steroids and dapsone. To our knowledge, this association has never been reported.