No abstract

No abstract

A newborn female born at term was admitted at 28 hours for seizures and generalized hypotonia. Cerebral ultrasound showed a right temporal echogenic lesion confirmed on MRI and thought to be secondary to thrombosis of the vein of Labbé. The EEG showed epileptic discharges over the right temporal region. Extensive thrombotic studies revealed a transiently decreased PTT consistent with a prothrombotic state. The hypotonia did not resolve after the acute phase as expected, raising the possibility of another underlying cause. Because of a peculiar phenotype with almond-shaped eyes and bitemporal depression, Prader-Willi syndrome (PWS) was suspected. Methylation analysis confirmed PWS, FISH analysis excluded a deletion in 15q11-q13, maternal uniparental disomy (UPD) was confirmed. To our knowledge, this is the first report of the association of a neonatal venous thrombosis and a PW Syndrome.

Objectives: Periventricular pseudocysts (PP) are increasingly diagnosed on neonatal cranial ultrasounds. Associations with underlying disease are reported, if isolated the prognosis is good. Confusion with cystic periventricular leucomalacia (c-PVL) is frequent. Our purpose was to follow the neurodevelopmental outcome (NDO) of patients with PP. Methods:We prospectively enrolled newborns with PP admitted to our NICU between 2003 and 2009. Neurodevelopment was assessed at 6 and 18 months.Results: 73 newborns had PP: 64% were girls, 48% were prematures, 29 % were twins, 41 % had a brain MRI (diagnosis of c-PVL in 30%). 21% were exposed to medications/drugs during pregnancy, 10 % had placental abruption. Two subtypes of PP were identified: Frontal horn cysts (FHC) and germinolytic cysts (GC). 68% were GC, 30% FHC, 2% had both. Eleven patients had persistent abnormal neurological exam. Three died (two mitochondriopathies, one Zellweger Syndrome). Four had symptomatic CMV infection, four a genetic syndrome. Of these sick patients, nine had GC, two had FSC.Mean Developmental Quotient of the remaining patients was 95.5+/-10 at 6 months and 92.2+/-9.3 at 18 months with no difference between subtypes.Conclusion: Short term NDO of newborns with PP was normal when no underlying disease was suspected. Although we describe an association with medication/drug use and adverse events during pregnancy, the pathophysiological mechanism remains unknown. This study suggests that if neurological examination is normal at birth and urinary CMV PCR negative, no further investigations are needed. Moreover, it is crucial to differentiate PP from c-PVL which has a poor prognosis.

Background and aims The incidence of cerebral palsy in preterm children is correlated to gestational age, and has been reported to decrease. The objective of this study is to analyse the incidence and risk factors for CP, as well as the subtype and severity of CP over a 22 year period. Methods Retrospective analysis of a cohort of very preterm infants born between 1990 and 2011, with 1996 infants hospitalised in our level III NICU, and a decrease in mortality from 25 to 8%. Follow-up was offered to the 1717 (86%) survivors. Cerebral palsy was diagnosed at the 18 months visit and was confirmed at a later appointment. In the first years children were evaluated with the Griffiths Mental Development Scales, and with the Bayley Scales, 2nd edition later on. Severity was assessed with cognitive as well as sensorial function, and with the Gross Motor Function Classification system. Results 1626 children were evaluated, 74 presented with cerebral palsy (4.5%), among them 32% with spastic quadriplegic, 39% spastic diplegic, 26% spastic hemiplegic and 1% ataxic subtypes. The rate of CP, the mean gestational age (28 weeks, SD 13 days) and birthweight (1162 SD 382 g) of the children with CP did not change across the years. Preliminary results show a change of subtype and diminishing severity of CP across the years. Conclusions Despite improvements in neonatal care and increased survival, CP incidence has not changed over a period of 22 years, but its quality and severity have changed.