[Rifampin-induced severe aseptic meningitis]. / Méningite aseptique sévère induite par la rifampicine.

We report the first case of acute drug-induced aseptic meningitis (DIAM) due to rifampin in a young female with systemic lupus erythematosus (SLE). DIAM is uncommon and its diagnosis is often difficult. This type of drug hypersensitivity is more frequently observed in patients with a history of auto-immune disease, particularly SLE. The major categories of causative agents are: nonsteroidal anti-inflammatory drugs, antimicrobials, intravenous immunoglobulins and biotherapies.

A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome.

Lymphedema-distichiasis (LD) syndrome is a rare autosomal dominant disorder of the FOXC2 gene, which codes for a forkhead transcription factor. Most of the mutations described in this gene to date are deletions or insertions, suggesting a mechanism of haploinsufficiency. We studied three independent families with LD presenting with both lymphedema and distichiasis. Two microrearrangements (one 8-bp deletion and one 7-bp duplication) occurring in a GC-rich genomic region (c.893-930) known to be prone to mutations were identified. A new missense mutation (p.Lys132Glu) located in a highly conserved sequence, the forkhead domain, was also identified. Mutations in this domain have been previously shown to impair FOXC2 transactivation ability. At a genetic level, this study confirms the heterogeneity of mutations responsible for LD and is consistent with a mechanism of haploinsufficiency. At a clinical level, it reinforces the importance of genetic testing in subjects with familial lymphedema or distichiasis, since measures can be taken at an early stage to prevent complications and to reduce the progression of lymphedema or delay its occurrence.

Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3.

We have tested the DNA of a large series of Glanzmann thrombasthenia patients for polymorphisms in platelet membrane glycoproteins. To our surprise, we noted a high prevalence of the HPA-1b allele of beta3, the minority allele in a normal population. This proved to be due to the presence of nine patients homozygous for the so-called French gypsy mutation (IVS15[ + 1]G-->A) in alphaIIb. Seven of these patients were homozygous for the HPA-1b alloantigen and the other two heterozygous HPA-1a/1b. As the alphaIIb and beta3 genes are both on chromosome 17, it is highly probable that the French gypsy mutation first arose on a chromosome encoding HPA-1b. For other adhesion receptors, no major differences were seen in the distribution of the A1, A2 and A3 alleles in the alpha2 gene, or in the Kozak or HPA-2 polymorphisms of GPIbalpha, suggesting that none of these alleles result in increased survival in Glanzmann thrombasthenia.

[Intraalveolar hemorrhage as a cause of acute respiratory failure in catastrophic antiphospholipid syndrome]. / Krwawienie sródpecherzykowe przyczyna ostrej niewydolnosci oddechowej w katastrofalnym zespole antyfosfolipidowym.

We report the case of a catastrophic antiphospholipid syndrome (CAPS), which developed without a known cause in a 38-year old man. Primary antiphospholipid syndrome was diagnosed one year earlier. Clinical manifestations of CAPS were dominated by diffuse intraalveolar haemorrhage leading to acute respiratory failure and renal failure. Syndrome of multiorgan failure developed despite the treatment with plasmapheresis, high doses of glycocorticosteroids, an intravenous gammaglobulins. The patient died 6 weeks after the admission.