[Malignancy risk and Wiedemann-Beckwith syndrome: what follow-up to provide?]. / Risque tumoral et syndrome de Wiedemann-Beckwith: quelle surveillance proposer?

Wiedemann-Beckwith syndrome (WBS) is a syndrome of excessive growing with a high predisposition to developing embryologic tumours within the first years of life. This risk is evaluated between 7.5 and 10%; it varies with the mechanisms of mutations involved. These take place in two distinct domains of 11p15, which are under parental printing. Emerging techniques of cytogenetic and molecular biology now have shown correlations between genotypes and phenotypes, and can identify the 30% of WBS who are especially at risk of developing tumours. A specific follow-up, integrating the specificity of developing tumours of each 11p15 mutations involved, is now proposed to patients with WBS.

[Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory]. / Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français.

Nontuberculous mycobacterial infections are rare in immunocompetent children, and usually present as adenitis. We report a case of a 6-year-old girl with a multifocal chronic osteomyelitis and pulmonary localisation due to Mycobacterium intracellulare associated with an autosomal dominant mutation of interferon gamma receptor 1 gene (INFGR1) leading to a syndrome of mendelian predisposition to mycobacteria infections by partial deficiency of intracellular signalisation of gamma interferon. This child has been cured with anti-mycobacteria drugs and gamma interferon. This report focus on the importance of looking for a susceptibility of the host to infectious diseases, which can lead to a specific treatment. As far as we know, this is the first case described in a tropical area.

[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]. / Syndrome de Kabuki en milieu tropical chez un nourrisson hospitalisé pour diarrhée et stagnation pondérale.

The authors report on a 6-month-old girl with Kabuki syndrome, admitted for acute diarrhoea and growth retardation at the Mayotte hospital. From this case, they try to explain the way of understanding and management in front of dysmorphic features.