Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?

The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly, and short stature, in whom no mutations in CTC1 were found. Our patient shares some features seen in other diseases associated with telomere shortening including Hoyeraal-Hreidarsson and Revesz syndromes. We therefore measured telomere length by Flow-Fish which was normal. The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome. However, direct sequencing of MYCN was normal, and we did not detect any hemizygous deletion of the miR-17∼92 polycistronic miRNA cluster. To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome.

Effect of preterm birth and birth weight on eating behavior at 2 y of age.

BACKGROUND: Preterm infants frequently present eating difficulties in early childhood. Determinants of these difficulties are not known. OBJECTIVE: We assessed the influence of neonatal and maternal characteristics on eating behaviors at 2 y of age. DESIGN: The following 2 cohorts were compared: 234 preterm children born <33 wk of gestational age from the POLYmorphisme génétique, Nutrition et Comportement Alimentaire cohort and 245 term children from the Observation des Préférences ALImentaires du Nourrisson et de l'Enfant cohort. Eating behaviors were assessed by using the validated Children's Eating Difficulties Questionnaire, which assesses the following 2 dimensions: a low drive to eat and narrow food repertoire. Each dimension was graded from 2 to 10 with more severe difficulties reflected by a higher score. Children in the upper quintile were classified as having eating disorders. RESULTS: Compared with term children, preterm children had a worse drive-to-eat score (4.3 ± 1.6 compared with 3.6 ± 1.5, respectively; P = 0.001) and a marginally lower food-repertoire score (5.0 ± 1.5 compared with 4.8 ± 1.6, respectively; P = 0.05). In a multilevel logistic regression model, female sex [adjusted OR (aOR): 1.76; 95% CI: 1.08, 2.88; P = 0.025] and birth weight less than -1 z score (aOR: 2.88; 95% CI: 1.47, 5.67; P = 0.002) but not gestational age were associated with a worse drive to eat. A maternal level of education beyond high school was associated with lower risk of a poor food-repertoire score (aOR: 0.54; 95% CI: 0.32, 0.90; P = 0.02). CONCLUSIONS: Preterm children have more eating difficulties than term children do, but after adjustment for maternal and neonatal characteristics, gestational age is not associated with impaired eating behaviors at the age of 2 y. Female sex, a low maternal level of education, and less than -1 SD intrauterine growth are associated with eating difficulties at 2 y of age. This trial was registered at clinicaltrials.gov as NCT 00663572.

[Analgesia and sedation in premature newborns]. / Analgésie et sédation chez le nouveau-né prématuré.

Analgesics and sedatives are routinely prescribed in intensive care on intubated premature newborns, to ensure their comfort and limit pain. The results of two studies show that there is no significant link between prolonged exposure to these treatments and a more unfavourable long-term neurological outcome.