Agenesis of the corpus callosum in a newborn with Turner mosaicism

The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient’s outcome is influenced by etiology and associated central nervous system malformations. We describe a child with Turner syndrome (TS) mosaicism, with particular phenotype features and a complete agenesis of the corpus callosum. To our knowledge, this is the second case report of TS mosaicism associated with complete agenesis of the corpus callosum. Anatomical brain magnetic resonance imaging and diffusion tensor imaging were useful to confirm the complete absence of the corpus callosum, evaluate associated central nervous system malformations, visualize abnormal white matter tracts (Probst bundles) and assess the remaining commissures

Role of beta-2-microglobulin as a biomarker in very preterm and extremely preterm infants with CNS inflammation.

BackgroundPremature infants are at risk for severe sepsis and meningitis, both infections associated with high mortality and morbidity. Cerebro-spinal fluid (CSF) culture is the gold standard method for meningitis diagnosis, but interpretation of biochemical parameters of CSF is essential at the moment of the analysis in order to start the appropriate treatment. The main objective of this study was to determine whether levels of CSF beta-2-microglobulin (B2M) were elevated in preterm infants with CNS infections or other inflammatory processes, and to establish if there were differences in B2M concentrations amongst various inflammatory settings (sepsis, meningitis, and progressive post-hemorrhagic ventricular dilatation (PHVD)).MethodsThis is a retrospective study of all very preterm and extremely preterm infants (ResultsFifty-nine patients were included in the study. In patients with CNS infections, the median value of B2M was 8.69 mg/L (3.92-18.5). B2M levels above 3.92 mg/L showed greater sensitivity and specificity than leukocyte levels in discriminating between patients with CNS infections or other inflammatory processes and those without CNS inflammation.ConclusionsIn this population, CSF B2M proved to be an effective biomarker to discriminate between patients with CNS infections and other inflammatory processes and those without CNS inflammation

Early Physiotherapy Intervention Program for Preterm Infants and Parents: A Randomized, Single-Blind Clinical Trial

Background: The early developmental interventions might be designed with a preventative approach to improving the development of at-risk preterm infants. The present study aimed to evaluate the effectiveness of an early physiotherapy intervention on preterm infants’ motor and global development, and on parents’ stress index. Methods: 48 infants were enrolled and randomized into two groups. Infants allocated to the intervention group received an early physiotherapy intervention, based on parental education sessions and tactile and kinesthetic stimulation during the NICU period, as well as a home-based activity program. The intervention commenced after 32 weeks post-menstrual age and ended at 2 months corrected age. Infants allocated to the control group received the usual care based on the NIDCAP-care. Results: No differences were found between groups on the Alberta Infant Motor Scale at 2- or 8-months corrected age. Infants in the intervention group showed more optimal fine motor, problem-solving, personal-social, and communication development at 1 month corrected age. Conclusions: The results showed no effect on the early physiotherapy intervention. Results might be related to the dose or intensity of the intervention, but also to the poor parental compliance. ClinicalTrials.gov NCT03313427