Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.

We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes.

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

Here we describe the clinical, histopathological and molecular studies of a female proband that died at 2 months of age in the context of a syndromic polymicrogyria. There was no significant family history. Clinical and radiological features included poor contact, cleft palate, facial dysmorphic features with frontal bossing, down-slanting and small palpebral fissures, inferior epicanthic folds, low-set and malformed ears, flat nose, retrognathism and short neck, minor limb anomalies, polymicrogyria that appear more severe in the perisylvian regions and cerebellar vermis hypoplasia. Autopsy findings revealed a patent foramen ovale with persistent left superior vena cava, left renal hypoplasia and microphthalmia. This description does not fit with any of the known syndromes with polymicrogyria and cytogenetic analyses including standard and high resolution chromosome analyses, telomeric FISH studies and array-CGH were normal. Consequently, the reported features in this child are unique and are likely to represent a new syndrome.

Palivizumab efficacy in preterm infants with gestational age < or = 30 weeks without bronchopulmonary dysplasia.

The present study was designed to determine the efficacy of administration of palivizumab to preterm infants with gestational age (GA) < or = 30 weeks without bronchopulmonary dysplasia (BPD). All patients born with GA < or = 30 weeks without BPD on Day 28 and hospitalized for RSV bronchiolitis in Burgundy (12 hospitals) from December 1 to April 30 of the next year were included in this prospective observational study during five successive RSV seasons (1999-2000, 2000-2001, 2001-2002, 2002-2003, and 2003-2004). Palivizumab was given to premature infants with a gestational age < or = 30 weeks without BPD in the 2002-2003 and 2003-2004 periods only. In the cohort of premature infants with GA < or = 30 weeks without BPD, the respiratory syncytial virus (RSV) bronchiolitis hospitalization rate was reduced significantly (P < 0.01) in the two seasons with palivizumab prophylaxis (2002-2003: 0% and 2003-2004: 2%) versus the three previous RSV seasons (1999-2000: 14.3%; 2000-2001: 16.7%; 2001-2002: 10.2%). The number needed to treat to prevent one hospitalization for RSV bronchiolitis was 6 (95%CI: 4-11). Such favorable results have not been always found in the few available postmarketing epidemiological studies on hospitalization rate after palivizumab prophylaxis. Differences in health care organization could explain those discrepancies.

Correction: Maternal Haemoglobin and Short-Term Neonatal Outcome in Preterm Neonates.

[This corrects the article DOI: 10.1371/journal.pone.0089530.].

Severe respiratory syncytial virus bronchiolitis: epidemiologic variations associated with the initiation of palivizumab in severely premature infants with bronchopulmonary dysplasia.

BACKGROUND: The efficacy of palivizumab prophylaxis after bronchopulmonary dysplasia (BPD) has been demonstrated in a single placebo-controlled trial. Concern has emerged about the degree of efficacy of palivizumab. This study was designed to determine the efficacy of administration of palivizumab to premature infants with a gestational age

Maternal haemoglobin and short-term neonatal outcome in preterm neonates.

OBJECTIVE: To determine whether there is a significant association between maternal haemoglobin measured before delivery and short-term neonatal outcome in very preterm neonates. STUDY DESIGN: We included prospectively all live births occurring from 25 to 32+6 weeks of gestation in a tertiary care centre between January 1(st) 2009 and December 31(st) 2011. Outborn infants and infants presenting with lethal malformations were excluded. Three hundred and thirty-nine mothers and 409 infants met the inclusion criteria. For each mother-infant pair a prospective record of epidemiologic data was performed and maternal haemoglobin concentration recorded within 24 hours before delivery was retrospectively researched. Maternal haemoglobin was divided into quartiles with the second and the third one regarded as reference as they were composed of normal haemoglobin values. Short-term outcome was defined as poor in case of death during hospital stay and/or grades III/IV intraventricular haemorrhage and/or periventricular leukomalacia and/or necessity of ventriculoperitoneal shunt. RESULTS: The global rate of poor short-term neonatal outcome was 11.4% and was significantly associated with low maternal haemoglobin values. This association remained significant after adjustment for antenatal corticosteroids therapy, gestational age, parity, mechanism of preterm birth, mode of delivery and birth weight (aOR = 2.97 CI 95% [1.36-6.47]). There was no relation between short-term neonatal outcome and high maternal haemoglobin concentration values. CONCLUSION: We show that low maternal haemoglobin concentration at delivery is an independent risk factor for poor short-term neonatal outcome in very preterm neonates. This study is one of the first to show such an association within the preterm population.

Term neonate prognoses after perinatal asphyxia: contributions of MR imaging, MR spectroscopy, relaxation times, and apparent diffusion coefficients.

PURPOSE: To retrospectively evaluate magnetic resonance (MR) imaging, hydrogen 1 (1H) MR spectroscopy, apparent diffusion coefficient (ADC), T1, and T2 measurements for prediction of late neurologic outcome in term neonates after severe perinatal asphyxia. MATERIALS AND METHODS: This study was approved by the local ethics committee. Informed consent from parents was not required. Thirty term neonates (12 boys, 18 girls; age range, 2-12 days) with severe hypoxic-ischemic encephalopathy were examined during the first 12 days of life with conventional and diffusion-weighted cerebral MR imaging, 1H MR spectroscopy with absolute quantification, and T1 and T2 measurements. Quantitative 1H MR spectroscopy, T1, and T2 data were acquired on one 10-mm slab positioned at the level of the basal ganglia. The neonates were assigned to one of two groups according to their late (>12-month follow-up) neurologic outcome: those with an unfavorable outcome-that is, death or severe disability-and those with a favorable outcome. Clinical data, MR signal intensity abnormalities, ADCs, 1H MR spectroscopy findings, and relaxation times were compared by using Chi2 testing and analysis of variance to individualize the prognostic indicators. RESULTS: The unfavorable (n=16) and favorable (n=14) outcome groups were similar in terms of clinical data (ie, Apgar scores, visceral hypoxic injuries), visualization of brain edema on MR images, and T1 and T2 relaxation times. Late unfavorable neurologic outcome was associated with a mixed pattern of cortical and basal ganglia signal intensity abnormalities on MR images (13 babies with unfavorable vs three babies with favorable outcomes, P=.001) and with decreased absolute N-acetylaspartate (NAA) and choline concentrations in all brain structures, especially the basal ganglia (mean NAA concentration: 2.72 mmol/L in unfavorable outcome group vs 4.66 mmol/L in favorable outcome group, P<5x10(-9)), as measured with MR spectroscopy. In the basal ganglia, an NAA concentration lower than 4 mmol/L indicated an unfavorable individual prognosis with 94% sensitivity and 93% specificity. Significantly reduced ADCs also were noted in the unfavorable outcome group, but only during the first 6 days of life. CONCLUSION: Conventional MR imaging findings, spectroscopically measured absolute NAA and choline concentrations, and ADCs are complementary tools for predicting the individual outcomes of severely asphyxiated term neonates.