Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Background: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglustat treatment are described in the largest cohort of patients with adolescent/adult-onset NP-C studied to date.

Methods: Observational study based on clinical chart data from adult patients with NP-C (> 18 year old) diagnosed in France between 1990 and 2015.

[Clinical and biological efficacy of tocilizumab in giant cell arteritis: report of three patients and literature review].

Introduction: Treatment of giant cell arteritis is based on prolonged corticosteroid therapy but adverse side effects are common especially in the elderly.

Case Reports: We report three patients with giant cell vasculitis treated by tocilizumab, an interleukin-6 receptor antibody, owing to resistance or intolerance to corticosteroid therapy. A favorable outcome was rapidly observed both on clinical and biological data allowing a corticoid therapy sparing.

[Immune-mediated necrotizing myopathy associated with antibodies to hydroxy-methyl-glutaryl-coenzyme A reductase].

Introduction: Statins or 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase inhibitors (HMGCR) are among the most commonly prescribed treatment in France. They may be responsible for muscular intolerance with variable severity. They have been recently involved in the occurrence of an acquired inflammatory myopathy associated with anti-HMGCR antibodies.

A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity.

The RUNX1 gene is implicated in numerous chromosomal translocations that occur in acute myeloid leukemia (AML) and result in chimeric genes. In this study, 397 consecutive AML cases were analyzed using RUNX1 fluorescence in situ hybridization (FISH) probes. Three cases of the recently described translocation, t(7;21)(p22;q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy.

Diplorickettsia massiliensis as a human pathogen.

Diplorickettsia massiliensis has been recently isolated from Ixodes ricinus ticks. We screened 13,872 serum samples from patients in France with suspected tick-borne diseases and found three cases that had serological evidence of D. massiliensis infection; for one of these three cases, we obtained molecular evidence of an infection as well.

[Acquired Gitelman syndrome associated with Sjögren's syndrome and scleroderma].

Tubulopathy can complicate autoimmune diseases. It is usually a distal tubular acidosis, but Fanconi syndrome or Bartter syndrome has been exceptionally reported. We report a case of acquired Gitelman syndrome in a 32-year-old male who also presented diffuse scleroderma autoimmune thyroiditis, and Sjögren's syndrome.

[Recurrent nerve palsy due to Lyme disease: report of two cases].

Introduction: Neuroborreliosis can be a difficult diagnosis which requires epidemiologic, clinical and biologic arguments.

Case Reports: We report two patients who presented with a recurrent laryngeal nerve palsy with positive Lyme serology and favorable outcome after antibiotic therapy. In one case, a lymphocytic meningitis with intrathecal production of specific antibodies was evidenced.

[Acitretin-induced pneumonia: an underestimated complication of treatment of psoriasis].

Introduction: Retinoids are known to induce side effects which can be severe. Alveolar and interstitial pneumonia of uncertain pathogenesis can rarely occur when retinoid are used among patients with psoriasis.

Exegesis: We report an observation of acute respiratory distress beginning 26 days after introduction of acitretin, a second-generation retinoid.