[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]. / Forme respiratoire néonatale létale de la maladie de Niemann-Pick C2 et diagnostic anténatal par l'étude des mutations du gène HE1/NPC2.

UNLABELLED: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis. CASE REPORT: Elisa was born in May 2000. NP-C2 disease was associated with severe respiratory distress leading to death at the age of four months. On the next pregnancy in September 2000, prenatal diagnosis was performed by means of biological tests that required four weeks response time. In December 2000, isolation of the HE1/NPC2 gene located to 14q24.3 and of some of its mutations allowed to characterize the patient as being homozygote for the nonsense mutation E20X. On the the two next pregnancies, prenatal diagnosis was performed at 12 SA, in 48 hours, by the means of mutation analysis. The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. CONCLUSION: Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48 hours) prenatal diagnosis.

Prevalence, causes, and outcome at 2 years of age of newborn encephalopathy: population based study.

OBJECTIVES: To ascertain the prevalence of newborn encephalopathy in term live births, and also the underlying diagnoses, timing, and outcome at 2 years of surviving infants. DESIGN: Population based observational study. SETTING: North Pas-de-Calais area of France, January to December 2000. PATIENTS: All 90 neonates with moderate or severe newborn encephalopathy. RESULTS: The prevalence of moderate or severe newborn encephalopathy was 1.64 per 1000 term live births (95% confidence interval (CI) 1.30 to 1.98). The prevalence of birth asphyxia was 0.86 per 1000 term live births (95% CI 0.61 to 1.10). The main cause of newborn encephalopathy was birth asphyxia, diagnosed in 47 (52%) infants. It was associated with another diagnosis in 11/47 cases (23%). The timing was intrapartum in 56% of cases, antepartum in 13%, ante-intrapartum in 10%, and postpartum in 2%. In 19% of cases, no underlying cause was identified during the neonatal course. Twenty four infants died in the neonatal period, giving a fatality rate of 27% (95% CI 17% to 36%). Three infants died after the neonatal period. At 2 years of age, 38 infants had a poor outcome, defined by death or severe disability, a prevalence of 0.69 per 1000 term live births (95% CI 0.47 to 0.91). In infants with isolated birth asphyxia, this prevalence was 0.36 per 1000 term live births (95% CI 0.20 to 0.52). CONCLUSIONS: The causes of newborn encephalopathy were heterogeneous but the main one was birth asphyxia. The prevalence was low, but the outcome was poor, emphasising the need for prevention programmes and new therapeutic approaches.

[Congenital pulmonary lymphangiectasia revealed by cardiac arrest]. / Lymphangiectasies pulmonaires congénitales révélées par un arrêt cardiorespiratoire précoce.

UNLABELLED: Congenital pulmonary lymphangiectasia is a rare cause of respiratory distress in the neonatal period. Cardiac arrest may be its first manifestation. CASE REPORT: We report the case of a full term newborn who suffered at 30 min of life a sudden cardiac arrest. Despite intensive support, the patient died 5 h later. Lung examination showed pulmonary lymphangiectasia. CONCLUSION: Congenital pulmonary lymphangiectasia may be revealed by a sudden neonatal cardiac arrest. Pulmonary lymphangiectasia should be suspected in any newborn who develops early in life an unexplained refractory hypoxemia with radiographic reticulonodular images and uni or bilateral pneumothorax. The diagnosis is established at lung microscopy.

[Use of double-lumen umbilical vein catheters in a neonatal intensive care unit]. / Utilisation de cathéters veineux ombilicaux double voie en unité de soins intensifs néonatals.

BACKGROUND: The aim of the study was to compare the success/failure rate and complications of insertion into the umbilical vein, of either double-lumen catheters (Charrière diameter 04, length 13 and 30 cm) or single-lumen catheters (Charrière diameter 05, length 40 cm) in a population of neonates admitted to a neonatal intensive care unit. The numbers of insertions of additional peripheral venous catheters were also compared. PATIENTS AND METHODS: The population was divided into two groups according to the severity of the respiratory failure. Group 1 (n = 52): normal hemodynamic parameters and moderate respiratory failure (FiO2 < 0.6): only single-lumen catheters were used. Group 2 (n = 56): low systemic pressure requiring vascular filling and/or inotropic drugs infusion and/or severe respiratory failure (FiO2 > 0.6): in this group, either single-lumen catheters or double-lumen catheters were inserted. RESULTS: The success rate of insertion of double-lumen catheters and of single-lumen catheters were similar (61% vs 71%: P = 0.7). Nineteen double-lumen catheters were inserted in the group 2. The average duration of double-lumen umbilical catheterization was not significantly different from simple-lumen catheterization (4.9 +/- 2.2 vs 4.6 +/- 2.2 days). Complications relating to the umbilical venous catheterization were uncommon: three catheter obstructions (two with single-lumen catheter, one with double-lumen catheters), two nosocomial infections (both with single-lumen catheter), one hydropericardium (with single-lumen catheter). In group 2, more peripheral venous catheters were required during the first 72 hours of life after insertion of single-lumen catheter than after insertion of double-lumen catheters (average number of peripheral venous catheters per infant: 1.6 +/- 0.83 vs 1 +/- 0.35 respectively; P < 0.01). CONCLUSION: Feasibility and complication rate of umbilical double-lumen catheters were similar to those of single-lumen catheters. The use of umbilical double-lumen catheters reduces the need of peripheral venous catheters.

[Motor deficiencies in children: for a nosologic clarification in epidemiological studies]. / Les déficiences motrices de l'enfant: pour une clarification nosologique dans les études épidémiologiques.

In order to clarify the epidemiological research on childhood motor deficiency in France there is a need to better differenciate the two terms used to define this pathology: the French term "infirmité motrice cérébrale" (IMC) and the English term "cerebral palsy" (CP). The distinction between IMC and CP is highlighted on the basis of clinical examples. IMC recovers motor deficiencies which are quite similar, however, it can be very difficult to control the variations in its use. CP has the advantage of a greater exhaustivity as well as a greater reproductibility for epidemiological records. Recently a study was conducted for measuring the prevalence of childhood deficiencies in France, and the results were expressed either as IMC or as CP. When using the CP definition the prevalence rate in France was found to be close to that of foreign studies (1.9 per thousand). In studies with etiological purposes involving several countries, a preliminary agreement on the definition of the clinical groups is absolutely necessary.

The analgesic effect of sucrose in full term infants: a randomised controlled trial.

OBJECTIVE: To evaluate the effects of different sucrose concentrations on measures of neonatal pain. DESIGN: Randomised, double blind, placebo controlled trial of sterile water (control) or one of three solutions of sucrose--namely, 12.5%, 25%, and 50% wt/vol. SETTING: Postnatal ward. PATIENTS: 60 healthy infants of gestational age 37-42 weeks and postnatal age 1-6 days randomised to receive 2 ml of one of the four solutions on to the tongue two minutes before heel prick sampling for serum bilirubin concentrations. MAIN OUTCOME MEASURE: Duration of crying over the first three minutes after heel prick. RESULTS: There was a significant reduction in overall crying time and heart rate after three minutes in the babies given 50% sucrose as compared with controls. This was maximal one minute after heel prick in the 50% sucrose group and became statistically significant in the 25% sucrose group at two minutes. There was a significant trend for a reduction in crying time with increasing concentrations of sucrose over the first three minutes. CONCLUSION: Concentrated sucrose solution seems to reduce crying and the autonomic effects of a painful procedure in healthy normal babies. Sucrose may be a useful and safe analgesic for minor procedures in neonates.