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.