Linde Goossens

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment (EXIT) are considered, additional malformations must be carefully excluded as CHAOS may be part of various monogenic conditions or chromosomal disorders. We report an unique family with autosomal dominant inheritance of CHAOS and variable expression in the affected father and two affected children. It is concluded that minor expression in one of the parents may be an important indicator for genetic counseling in CHAOS and management of future pregnancies.

Citrulline levels in a paediatric age group: Does measurement on dried blood spots have additional value?

BACKGROUND Citrulline is considered to be a marker of absorptive enterocyte mass. Citrulline levels can be measured in plasma or dried blood spot (DBS) samples. The purpose of this study is to calculate reference intervals for plasma and DBS citrulline concentrations in children and to examine the effect of age and gender. METHODS In 151 healthy subjects ranging from 1 month to 20 years of age, plasma and DBS citrulline concentration were determined by using Liquid Chromatography-tandem Mass Spectrometry. Citrulline concentrations were examined in relation to age and gender. Reference values were calculated according to the guidelines of the International Federation of Clinical Chemistry and the National Committee on Clinical Laboratory Standards. RESULTS No significant influence of age and gender could be discerned on plasma or DBS citrulline concentration. In children, the reference intervals for citrulline bounded by the 2.5 and 97.5 percentiles are 13.31-69.05 μmol/L and 23.70-49.04 μmol/L for plasma and DBS samples respectively. CONCLUSIONS The reference intervals for citrulline levels in healthy children are widely dispersed. Measuring citrulline concentrations in dried blood spots delivers no additional value to plasma measurements for the calculation of reference intervals in children.

Phototherapy-Mediated Syndrome of Inappropriate Secretion of Antidiuretic Hormone in an In Utero Selective Serotonin Reuptake Inhibitor–Exposed Newborn Infant

Although selective serotonin reuptake inhibitors (SSRIs) have gained wide acceptance in the off-label treatment of mental disorders in pregnant women, there seems to be an increased risk for serotonergic adverse effects in newborn infants who are exposed to SSRIs during late pregnancy. Hyponatremia as a result of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is a relatively common serious side effect of the use of SSRIs in (mostly elderly) adults. Severe hyponatremia as a result of an SIADH is proposed here as part of a neonatal serotonin toxicity syndrome in a newborn infant who was exposed prenatally to an SSRI. The definite reversal to normal serum sodium levels after fluid restriction, the lack of any alternative cause for the SIADH, and the positive temporal relation with a high score on a widely used adverse drug reaction probability scale offer solid support for the hypothesis of a causal relationship between the SIADH and the prenatal sertraline exposure in our neonate. Moreover, accumulative data on the acute enhancement of serotonergic transmission by intense illumination led us to hypothesize that phototherapy used to treat hyperbilirubinemia in the newborn infant could have been the ultimate environmental trigger for this proposed new cause of iatrogenic neonatal SIADH. The speculative role of phototherapy as a physical trigger for this drug-related adverse event should be confirmed in other cases by thorough study of the serotonin metabolism, assay of SSRI levels in cord blood, and serial measurement of plasma levels in exposed neonates. As phototherapy is used frequently in jaundiced neonates and an apparently increasing number of infants are born to mothers who take SSRIs, serotonin toxicity in neonates deserves increased attention.