The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.

Background: Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.

Methods: All patients with known GD, living in France, with ≥ 1 consultations (1980-2010), were included in the French GD registry, yielding the following 4 groups: the entire cohort, with clinical description; and its subgroups: patients with ≥ 1 follow-up visits, to investigate complications; recently followed (2009-2010) patients; and patients treated during 2009-2010, to examine complications before and during treatment. Data are expressed as medians (range) for continuous variables and numbers (%) for categorical variables.

Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG).

Unlabelled: 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%.

Introduction: The aim of the study was to assess the prevalence and characteristics of vertebral fractures in a cohort of adult patients with GD1.

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).

Background: 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.

Methods: 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.

Dramatic etanercept-induced remission of relapsing febrile sciatic neuralgia related to p46l mutation of the tnfrsf1a gene.

An adult patient experienced attacks of severe low back pain and sciatic neuralgia for several years, sometimes associated with myalgias, skin lesions, and high fever. Specific inflammatory laboratory tests were the major abnormalities. P46L mutation in the gene on chromosome 12p13 that encodes tumor necrosis factor receptor superfamily 1A (TNFRSF1A) was found.

Multiple cutaneous angiomas and Poems syndrome.

Introduction: Poems syndrome is characterized by polyneuropathy, organomegaly, endocrinopathy, M-proteins, and skin lesions.

Case: We describe here a case in which the eruption of diffuse cutaneous angiomas in a woman with a history of bone plasmocytoma and progressive polyneuropathy helped physicians to diagnose Poems syndrome.

Discussion: Other manifestations of Poems syndrome in this patient included endocrine dysfunction (hypothyroidism, adrenal insufficiency, and hypogonadism), sclerotic bone lesions of the femoral shaft, ribs, and vertebral body, monoclonal gammopathy, and anasarca.

Urticarial vasculitis revealing relapsing polychondritis.

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.

[A group fever: safari's fever].

Introduction: 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.

Exegesis: An eighteen years-old girl presents fever, headache, diarrhoea and abdominal pains at return from Dogon country (south of Mali).

[Icteric Fort Bragg fever: a case report with nosological discussion].

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.

Sarcoidosis preceding chronic myelomonocytic leukemia. Report of two cases.

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.

[Retrospective study of 55 patients with circulating blood T gama/delta lymphocytosis].

Purpose: 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.

[Mitochondrial diseases in adults].

Purpose: Mitochondrial diseases have numerous phenotypic expression, and form an heterogeneous group of genetic diseases in which the production of energy fails. Well known in childhood, these mitochondrial diseases can onset in adulthood and may remain unrecognized. We propose a recent review (Medline 1981-2001) of the literature on adult forms of mitochondriopathies, illustrated with a typical case report.

A case of polymyositis with anti-histidyl-t-RNA synthetase (Jo-1) antibody syndrome following extensive vinyl chloride exposure.

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.

Pinguecula and Sjögren's syndrome: two cases.

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.

[Stevens-Johnson syndrome followed by Gougerot-Sjögren syndrome].

Background: Sicca syndrome after Stevens-Johnson syndrome is classically described. However, to our knowledge, authentic Sjögren's syndrome following epidermal necrolysis has not been described previously.

Case Report: A 36-year-old woman with Steven-Johnson syndrome developed transient hepatitis and a persistent sicca syndrome.

[Psychological and behavioral disorders with good outcome in neurosarcoidosis].

Introduction: 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.

Exegesis: We report a case of neurosarcoidosis occurring in a 40-year-old woman, a native of Reunion Island, with initial meningeal and hypophyseal involvement.