[Propositions for perinatal care at extremely low gestational ages - Working group on "Extremely low gestational ages" for SFMP, CNGOF, and SFN]. / Propositions sur la prise en charge en cas d'extrême prématurité ­ Le groupe de travail « Extrême Prématurité ¼ pour la SFMP, le CNGOF et la SFN.

OBJECTIVES: International literature suggests that active perinatal management at extremely low gestational ages improves survival without increasing the risk of impairment in survivors, compared to less active management. Although these results are limited to a small number of countries, they question current practices in France. New propositions on perinatal management of extremely preterm infants have carried out by the French Society of Perinatal Medicine, the French Society of Neonatology and the National College of French Obstetricians and Gynecologists. METHODS: This group was set up in 2015 on the initiative of the professional societies and in collaboration with parents' and users' associations. The work was based on a review of the literature on the prognosis of extremely preterm children, as well as on recommendations by European societies. Based on this information, a text was produced, submitted to all members of the working group and definitively validated in April 2019. RESULTS: This text offers a decision-making guideline for the management at extremely low gestational ages. Its principles are: the administration of steroids independently of management (resuscitation or comfort care); a prognostic evaluation and a collegial decision, outside the context of the emergency; a consensus on the information to be given to parents before going to inform them and gather their opinion. CONCLUSIONS: These new propositions will contribute to modifying perinatal care at extremely low gestational ages in France.

Severe acute pancreatitis in a child with phenylketonuria.

We report for the first time severe acute pancreatitis in a child treated for phenylketonuria (PKU) discovered on neonatal screening. This 2-year-old boy was first hospitalized for bilious vomiting and moderate back pain. Laboratory values included a lipase level of 1.142 U/L, a phenylalanine level of 10mg/dL, and computed tomography revealed Balthazar grade E pancreatitis. Continuous enteral feeding was started on the 3rd day after admission. We observed clinical and biological improvement. Etiologic investigations for pancreatitis returned negative. Despite the severity of the pancreatitis, we did not observe decompensation of the metabolic disease. Specific nutritional management was necessary.

Breastfeeding and early childhood caries. Review of the literature, recommendations, and prevention.

CONTEXT: Early childhood caries is a chronic disease that affects a child's general state of health. The question of a link between primary tooth caries and breastfeeding has been addressed for many years, with contradictory results. The concomitant decay of primary teeth, effective establishment, or not, of oral hygiene, and alimentary diversification away from breastfeeding are all confounding factors in this topic. The aim of our study was to analyze the links between breastfeeding and the appearance of caries, as described in the scientific literature and in the recommendations of specialist societies. METHODS: A review of publications written in English and French was carried out, searching for the terms early childhood caries, decay and breastfeeding, focusing on literature reviews and meta-analyses dating from the past 10 years. The PubMed database of the US National Library of Medicine National Institutes of Health (NBCI) was used. Furthermore, a review of specialist dental and pediatric societies was conducted. RESULTS: Breastfeeding until the age of 1 year is not associated with an increased risk of dental caries, and may even provide protection compared with feeding with formula milk. By contrast, infants who are breastfed beyond the age of 12 months demonstrate an increased risk of caries. However, the results derive from heterogeneous studies that do not always take into account contradictory factors such as eating habits of the mother or infant (feeding during the night, number of meals per day, eating sweet foods etc.), dental hygiene, or the sociocultural context. Moreover, the most recent recommendations of pediatric and dental societies advise breastfeeding until the age of 2 years, suggesting that this be accompanied by toothbrushing and better nutrition by reducing the frequency and consumption of sugary foods, aimed at helping parents choose prolonged breastfeeding. CONCLUSION: Extended breastfeeding is a protective factor for childhood caries under 1 year of age. Beyond 1 year, it is difficult to conclude between protection and aggravation of caries because of the multiplicity of confounding factors such as dietary patterns, which vary depending on countries and families, and problems of oral hygiene. In practical terms, when breastfeeding continues beyond 1 year, consultation with a dentist is necessary for examination and preventive advice regarding dietary practices (especially sugar intake), oral hygiene, or supplementary fluoride.

[Effect of magnesium sulphate on mortality and neurologic morbidity of the very-preterm newborn (of less than 33 weeks) with two-year neurological outcome: results of the prospective PREMAG trial]. / Effet du sulfate de magnésium sur la mortalité et la morbidité neurologique chez le prématuré de moins de 33 semaines, avec recul à deux ans: résultats de l'essai prospectif multicentrique contre placebo PREMAG.

OBJECTIVE: To evaluate whether magnesium sulphate (MgSO(4)) given to women at risk of very-preterm birth would be neuroprotective in preterm newborns. PATIENTS AND METHODS: In 18 French centres, women with fetuses of gestational age less than 33 weeks whose birth was expected within 24 hours were randomised from 1993 to 2003 with follow-up of infants until two years of age after discharge. They received a single injection of 0.1 mg/l de MgSO(4) (4g) or isotonic 0.9% saline over 30 minutes. This study is registered as an International Standard Randomised Controlled Trial, number 00120588. Analyses were based on intention to treat. RESULTS: Data from 688 infants were analysed of which 606 were followed up and 10 were lost to follow-up. Comparing infants who received MgSO(4) or placebo, respectively, has shown a decrease of all primary endpoints (total mortality, severe white matter injury and their combined outcome) and of all secondary endpoints (motor dysfunction, cerebral palsy, cognitive dysfunction and their combined outcomes at two years of age) in the MgSO(4) group. The decrease was nearly significant or significant for gross motor dysfunction (OR: 0.65 [0.41-1.02]) and combined criteria: death and cerebral palsy (OR: 0.65 [0.42-1.03]); death and gross motor dysfunction (OR: 0.62 [0.41-0.93]); death, cerebral palsy and cognitive dysfunction (OR: 0.68 [0.47-1.00]). No major maternal adverse effects were observed in the MgSO(4) group. DISCUSSION AND CONCLUSION: Given its beneficial effects and safety, the use of prenatal low-dose MgSO(4) for preventing neurodisabilities of very-preterm infants should be discussed either as a stand-alone treatment or as part of a combination treatment, at least in the context of clinical trials.

Facial anomalies in D-2-hydroxyglutaric aciduria.

D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D-2-hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin.

[Neonatal meningitis caused by Alcaligenes xylosoxydans]. / Méningite néonatale à Alcaligenes xylosoxydans.

BACKGROUND: Neonatal meningitis due to Alcaligenes xylosoxydans is exceptional; its diagnosis and treatment may be difficult. CASE REPORT: A neonate born at 42 weeks of GA to a mother who worked as a nurse in an intensive care unit was admitted on day 2 for a severe infection. Her cerebrospinal (CSF) contained 1,970 white cell/mm3, polymorphonuclear in majority: direct examination failed to show any germ but the CSF and blood cultures were positive for Alcaligenes xylosoxydans, a strain that was resistant to the initially given antibiotics. The patient was given piperacillin, 300 mg/kg/d for 21 days and completely cured with a follow-up of 6 months. CONCLUSIONS: This case shows that lombar puncture can be necessary in evaluating early neonatal sepsis; it also shows usefulness of piperacillin in some cases.

[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family]. / Encéphalopathie myoclonique précoce et hyperglycinémie sans cétose dans une même fratrie.

BACKGROUND: Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes. CASE REPORT: A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot. CONCLUSION: Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.

[Association of aplasia cutis congenita with coarctation of the aorta: a coincidence?]. / Association d'une aplasie cutanée congénitale et d'une coarctation de l'aorte: association fortuite?

UNLABELLED: The association of aplasia cutis congenita and aortic coarctation could be a coincidence. CASE REPORT: A neonate was born with an aplasia cutis congenita in the midline of the scalp. When she was two months old, an aortie coarctation was detected and surgically resected. Spontaneously, the scalp gradually cicatrized. CONCLUSION: A search for a candidate gene in this second reported case is mandated.

[Hemolytic anemia in a newborn after maternal treatment with nitrofurantoin at the end of pregnancy]. / Anémie hémolytique chez un nouveau-né après prise maternelle de nitrofurantoïne en fin de grossesse.

UNLABELLED: Drug administration during the last trimester of pregnancy may have adverse effects for the newborn. CASE REPORT: A hemolytic anemia occurred during the first hours of life in a full-term neonate whose mother had taken nitrofurantoin during the last month of pregnancy. CONCLUSION: The immature enzymatic systems of the neonate are exposed to this adverse effect and justify the recommendation not to prescribe nitrofurantoin at the end of pregnancy.

[Two cases of congenital varicella syndrome: plea for the varicella vaccine]. / A propos de deux cas de varicelle congénitale: plaidoyer pour la vaccination des femmes en âge de procréer.

We describe two cases of congenital varicella. The first presented with cutaneous aplasia and scars; the second with skin abnormalities, limb atrophy, limb paresis, Horner's syndrome and liver calcifications: prognosis was poor in this case. After reviewing the published cases of congenital varicella, we advocate the use of varicella vaccine in seronegative women before pregnancy.

[Hypoglossia, situs inversus and absence of the pituitary in a neonate: teratogenic effect of maternal hyperthermia?]. / Hypoglossie, situs inversus et absence d'hypophyse chez un nouveau-né: effect tératogène d'une hyperthermie maternelle?

UNLABELLED: Hypoglossia is a rare malformation that is not fatal, unlike otocephaly. CASE REPORT: A neonate, born at 39 weeks of GA and dead at 5th day showed hypoglossia, dextrocardia, situs inversus and pituitary aplasia. Maternal hyperthermia was observed at 4 weeks gestation. CONCLUSION: This case is reminiscent of a community of syndrome with agnathia-holoprosencephaly and situs inversus. The responsibility of maternal hyperthermia is raised.

[Metopic craniosynostosis, probable effect of intrauterine exposure to maternal valproate treatment]. / La craniosténose de la métopique, effet probable de l'exposition intra-utérine à un traitement maternel par le valproate.

UNLABELLED: Metopic craniosynostosis may be an adverse effect of valproic acid exposed fetus. CASES: We report two infants with metopic craniosynostosis, born to mothers who were treated with valproic acid. In one case, a prenatal diagnosis was made. In the other case, only the male dizygotic twin was affected. CONCLUSION: Trigonocephaly may be a symptom of valproate embryofoetopathy detectable by antenatal ultrasound examination.