[A particular case of tubercular pneumonia]. / Un caso particolare di polmonite tubercolare.

A 50 year old woman was seen for fever and persistent cough, with elevated phlogosis markers and a cavitary lesion at the right upper pulmonary lobe at thoracic CT. Even in the absence of any culture-positive finding, but given the strong suspicion of tubercular disease, the patient was treated with standard antitubercular quadruple therapy for two months (isoniazid, pyrazinamide, rifampin and ethambutol) and later with two-drug therapy (isoniazid and rifampin). One month after the beginning of this second regimen we observed clinical relapse and a rise in phlogosis markers. We supposed partial resistance to therapy and, without any antibiogram, we decided to introduce therapy with oral levofloxacin (stopped for polyneuropathy) and then oral linezolid. At the end of therapy we observed complete clinical and radiological healing. In our opinion this clinical case shows clearly the diagnostic and therapeutic issues of the tubercular disease: the need to start therapy even in the absence of positive cultures, the presence of resistance to conventional therapy and the possibility of alternative therapeutic regimes with oral antibiotics.

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS). Mutations in ABHD5/CGI58 gene are associated with CDS. METHODS: Eight CDS patients belonging to six different families from Mediterranean countries were enrolled for genetic study. Molecular analysis of the ABHD5 gene included the sequencing of the 7 coding exons and of the putative 5' regulatory regions, as well as reverse transcript-polymerase chain reaction analysis and sequencing of normal and aberrant ABHD5 cDNAs. RESULTS: Five different mutations were identified, four of which were novel, including two splice-site mutations (c.47+1G>A and c.960+5G>A) and two large deletions (c.898_*320del and c.662-1330_773+46del). All the reported mutations are predicted to be pathogenic because they lead to an early stop codon or a frameshift producing a premature termination of translation. While nonsense, missense, frameshift and splice-site mutations have been identified in CDS patients, large genomic deletions have not previously been described. CONCLUSIONS: These results emphasize the need for an efficient approach for genomic deletion screening to ensure an accurate molecular diagnosis of CDS. Moreover, in spite of intensive molecular screening, no mutations were identified in one patient with a confirmed clinical diagnosis of CDS, appointing to genetic heterogeneity of the syndrome.