[Neonatal enterovirus infections reported in France in 2012]. / Infections néonatales à entérovirus en France en 2012.

Enteroviruses (EVs) are among the most common viruses infecting humans. One-third of EV infections affect children under 1 year of age. Neonatal EV infections lead to a wide range of clinical manifestations, from mild febrile illness to severe, potentially fatal sepsis-like conditions with multiorgan failure. EV detections by serotype are reported by the National Reference Centre for EV Infections Lyon on a monthly basis. Demographic, clinical, and biological data were also collected in neonates hospitalized in 2012 for EV infection. Two subgroups were identified according to the beginning of symptoms: until 8 days of life (D8) or strictly after D8. There were 120 neonatal EV infections. Before D8, children with severe infection were born more prematurely with a low birth weight. The EVs most commonly detected in neonates were CV-B4 and E-11. Risk factors for severe EV infections included liver (73% before D8) and hematological damage (thrombocytopenia, 82%; coagulopathy, 64% before D8). This study suggests that systematic serotyping of neonatal EV infections and biological monitoring of liver function could be useful for early identification of children at high risk of clinical severity and fatality.

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.

We report a child with Beckwith-Wiedemann syndrome (BWS) as the consequence of an apparently balanced, maternally inherited reciprocal translocation t(11;17)(p15.5;q21.3). His mother and aunt, who inherited the translocation from their father, did not have BWS. At birth, long QT syndrome (LQTS) was diagnosed in this child and, secondarily, among apparently healthy family members carrying the translocation. By FISH analysis, the breakpoint in 11p15.5 interrupts the KCNQ1 gene between exons 2 and 10 and causes a loss of methylation of the IC2 (and thus BWS) on the maternally inherited der(11) chromosome. To explain the presence of LQTS segregating with the t(11;17) translocation in this family, we hypothesize that the translocation that interrupts KCNQ1 allow translation of an abnormal short allele that interferes in a dominant negative way with the normal isoform 1 of KCNQ1 in the heart (where this allele is not subject to parental imprint). This appears to be the first report of BWS with congenital LQTS, which should be considered as a rare but serious complication to be searched systematically in patients with BWS due to 11p15 rearrangements.