Marfan syndrome in a Triplo-X girl: a new association?

Triple X is a sex chromosomal abnormality that involves the presence of three sex chromosomes resulting in 47, XXX karyotype. Most patients suffering from this syndrome are usually mentally normal or subnormal with no gross malformation. To report an unusual association between Triple X and Marfan disease in a girl. A case of a triple X girl with craniofacial dysmorphy and skeletal anomalies, who did feat Marfan criteria by age, is presented. To the best of our knowledge this association has never been reported. Some clinical features are common between Triplo X and Marfan disease so a careful follow-up is needed and investigations should be performed in these patients because Marfan syndrome may be incomplete in early age

[ randomized, controlled trial of nebulized terbutaline in the first acute bronchiolitis in infant less than 12 months old]

Despite the common clinical practice, the available evidence on the efficacy of bronchodilators therapy for bronchiolitis is conflicting. The aim of this study is to evaluate the efficacy of nebulized terbutaline in bronchiolitis as measured by improvement in clinical score, oxygen saturation or reduction in duration of hospitalization. This prospective, double blind, placebo controlled, randomized clinical trial was performed at Children's Hospital of Tunis from December 2004 to April 2006. A total of 35 patients less than 12 months of age with diagnosis of moderately severe bronchiolitis were enrolled and assigned to receive nebulized terbutaline or normal saline placebo at admission [TO], at 30 minutes after admission [T30] and every four hours during a study period. Outcome measurements included: Respiratory Distress Assessment Instrument [RDAI] score, respiratory rate, oxygen saturation, heart rate and the duration of hospitalization. There were no significant difference between terbutaline and placebo at baseline, T30 min, T60 min, and T120 min after start study in RDAI score, oxygen saturation in room air, rate respiratory and heart rate. There was no difference in duration of hospitalization. Nebulized terbutaline therapy does not appear effective in treating moderately ill infants with the first acute bronchiolitis

Premiere crise convulsive de l'enfant. Strategie d'exploration

We have curried out a retrospective study on 51 children aged between 2 years 3 month and 13 years in order to determine the findings and to define the indications of neuroimaging modalities in children with a first unprovoked seizure. Children who had neuroimaging studies were divided into two groups based on the results of neuroimaging normal or abnormal. We have compared the two groups according to each clinical and electroencephalographic parameters studied. Neuroimaging abnormalitie were found in 47% of cases. According to our results and literature review, we concluded that the imaging should be done if we have at least one of the criteria: an abnormal neurological examination after the seizure and focal slowing waves on the electroencephalogram