Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 31 - N° 2 - p. 219-220

Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 31 - N° 2 - p. 214-215

Galactosemia is an inherited metabolic disorder due to a defect in one of the three enzymes required to fully metabolize the galactose in glucose: the galactose 1-phosphate uridyltransferase. Because this enzyme is present in the normal foetal liver since the tenth week of gestation, its defect cause congenital abnormality due to galactose accumulation, when the mother had taken milk during the pregnancy. It is mainly a liver pathology whereas the foetal cataract is rare. This latter is usually considered as the sole ophthalmic consequence of this disorder but exceptional ocular haemorrhages have also been described. We report the case of a neonate with galactosemia free from foetal cataract but presenting an unilateral vitreous haemorrhage. Retinal anomalies seen after vitrectomy are probably the source of the vitreous blood favoured by the coagulopathy associated with the neonatal disease. The causes of infant vitreous haemorrhages are often debated and their complications, especially severe amblyopia, require vitrectomy within the month following their discovery. In galactosemia, vitreous haemorrhage can be prevented by an early diagnosis and an appropriate treatment of the liver pathology.

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. (c) 2005 Elsevier SAS. Tous droits reserves.

Galactosemia is an inherited metabolic disorder due to a defect in one of the three enzymes required to fully metabolize the galactose in glucose: the galactose 1 -phosphate uriclyltransferase. Because this enzyme is present in the normal foetal liver since the tenth week of gestation, its defect cause congenital abnormality due to galactose accumulation, when the mother had taken milk during the pregnancy. It is mainly a liver pathology whereas the foetal cataract is rare. This latter is usually considered as the sole ophthalmic consequence of this disorder but exceptional ocular haemorrhages have also been described, We report the case of a neonate with galactosemia free from foetal cataract but presenting an unilateral vitreous haemorrhage. Retinal anomalies seen after vitrectomy are probably the source of the vitreous blood favoured by the coagulopathy associated with the neonatal disease. The causes of infant vitreous haemorrhages are often debated and their complications, especially severe amblyopia, require vitrectomy within the month following their discovery. In galactosemia, vitreous haemorrhage can be prevented by an early diagnosis and an appropriate treatment of the liver pathology.

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.

La maladie de Niemann-Pick type C (NPC) est une maladie lysosomale caractérisée par une anomalie du transport intracellulaire du cholestérol d’origine exogène avec accumulation intralysosomale de cholestérol non estérifié. Transmise sur le mode autosomique récessif, elle ne s’exprime dans la période néonatale que dans 50 % des cas. E., 2e enfant de parents non consanguins est née eutrophique à 34 semaines d’aménorrhée. Elle était intubée à 2 minutes de vie pour une détresse respiratoire severe qui a nécessité l’administration de 2 doses de surfactant. L’enfant présentait d’emblée une volumineuse hépato-splénomégalie homogène en échographie. Le bilan hématologique était normal. On observait un ictère de type cholestatique maximal à J7 de vie (bilirubine conjuguée à 49 mg/l) et résolutif à J35. Il existait une cytolyse hépatique persistante audelà du 3e mois de vie sans signe d’insuffisance hépatocellulaire. Sous corticoïdes, Elisa a pu être extubée à 3 semaines de vie. Elle restait oxygéno-dépendante. Une aggravation respiratoire avec apparition d’une pneumopathie interstitielle diffuse justifiait à nouveau une ventilation mécanique à 3 mois. L’enfant décédait à 4 mois de vie dans un tableau d’insuffisance respiratoire sévère. Une foetopathie était éliminée. Le myélogramme retrouvait quelques histiocytes vacuoles d’aspect spumeux. Les activités des β-glucosidase et sphingomyélinase leucocytaires étaient normales permettant d’exclure les diagnostics de maladie de Gaucher et maladie de Niemann-Pick type A/B. Après culture de fibroblates de peau dans un milieu enrichi en LDL, une coloration à la filipine mettait en évidence l’accumulation de cholestérol non estérifié dans les lysosomes confirmant le diagnostic de NPC. Les tests de complémentation génique affirmaient le type C2. Sur le plan clinique, la NPC associe toujours des manifestations hépatiques et neurologiques. Une atteinte respiratoire est inhabituelle. Dans le cas d’Elisa, les signes neurologiques n’ont pas été observés probablement du fait du décès précoce. Le phénotype NPC peut résulter de mutations portant sur 2 gênes distincts : NPC1 en 18q11 (100 mutations) et HE1/NPC2 en 14q24 (identifié en décembre 2000, 6 mutations). La plus fréquente des mutations du gêne HE1/NPC2 (E20X) a été retrouvée à l’état homozygote chez notre patiente. Seules 9 familles NPC2 sont connues à ce jour dans le monde. L’atteinte respiratoire sévère et précoce serait plutôt spécifique du type C2. Un diagnostic anténatal sur villosités choriales est possible en 48 heures.

UNLABELLED:The aim of this study was to describe pain management for newborn infants in neonatal intensive care units and neonatal units in the Nord-Pas-de-Calais.PATIENTS AND METHODS:A questionnaire was distributed to the 52 physicians practising in the six neonatal intensive care units and six neonatal units. The questions were in reference to pain assessment, treatment and prevention.RESULTS:Forty questionnaires were completed (77%). Eleven units proclaimed an interest in neonatal pain management. The tool for assessing pain was the EDIN scale (Echelle Douleur Inconfort Nouveau-né, neonatal pain and discomfort scale). Analgesic treatment was administered in 100% of cases for the insertion of chest tube, in 92% of cases for the insertion of percutaneous central catheter in a ventilated newborn infant and in 91% of cases for necrotizing enterocolitis requiring a mechanical ventilation. Prescribed analgesic drugs were propacetamol, nalbuphin or fentanyl; a sedation by midazolam or diazepam was occasionally associated. Emla cream was used before lumbar puncture in 80% of cases in the neonatal intensive care units and in 92% of cases in the neonatal units. Three neonatal intensive care units and four neonatal units administered a sucrose solution for blood samples.CONCLUSION:At the time of study, the interest in the pain of the physicians working in neonatal intensive care units and neonatal units was inadequate to guarantee an optimum management of pain in newborn infants. Physicians' approach remained heterogeneous.

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. (C) 2003 Editions scientifiques et medicales Elsevier SAS. Tous droits reserves.

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.

The aim of this study was to describe pain management for newborn infants in neonatal intensive care units and neonatal units in the Nord-Pas-de-Calais.Patients and methods. - A questionnaire was distributed to the 52 physicians practising in the six neonatal intensive care units and six neonatal units. The questions were in reference to pain assessment, treatment and prevention.Results. - Forty questionnaires were completed (77%). Eleven units proclaimed an interest in neonatal pain management. The tool for assessing pain was the EDIN scale (Echelle Douleur Inconfort Nouveau-ne, neonatal pain and discomfort scale). Analgesic treatment was administered in 100% of cases for the insertion of chest tube, in 92% of cases for the insertion of percutaneous central catheter in a ventilated newborn infant and in 91% of cases for necrotizing enterocolitis requiring a mechanical ventilation. Prescribed analgesic drugs were propacetamol, nalbuphin or fentanyl; a sedation by midazolam or diazepam was occasionally associated. Emla(R) cream was used before lumbar puncture in 80% of cases in the neonatal intensive care units and in 92% of cases in the neonatal units. Three neonatal intensive care units and four neonatal units administered a sucrose solution for blood samples.Conclusion. -At the time of study, the interest in the pain of the physicians working in neonatal intensive care units and neonatal units was inadequate to guarantee an optimum management of pain in newborn infants. Physicians' approach remained heterogeneous. (C) 2003 Editions scientifiques et medicales Elsevier SAS. Tons droits reserves.

According to several recent surveys, 50% of deaths occurring in neonatal intensive care units in France occur subsequent to a medical decision. The French Neonatal Group therefore decided to publish guidelines for practice. These guidelines present: definitions, clinical situations, ethical principles, obligations of the medical and nursing staff, and specific conditions where dilemmas occur. These guidelines focus on the obstetrico-pediatrics relationship.

According to several recent surveys, around 50% of the deaths occurring nowadays in French neonatal intensive care units result from a medical decision. This has led French neonatologists to set up guidelines for end-of-life decisions and practice in the perinatal period, which are presented in this paper. It covers definitions, clinical situations, ethical principles, obligations of the medical and nursing staff, and specific conditions where dilemmas occur.

L’érythropoïéine recombinante (EPOr) a montré un bénéfice en termes de réduction du nombre de transfusions chez les nouveau-nés de très faible poids de naissance. L’objectif de cette étude était d’évaluer l’efficacité de l’EPOr entre 30 et 32 semaines d’aménorrhée (SA).Deux groupes ont été comparés dans une étude rétrospective : de janvier 2005 à octobre 2006 enfants recevant de l’EPOr et de novembre 2006 à mai 2007 enfants sans EPOr. Étaient exclus, les enfants avec retard de croissance intra-utérin, allo-immunisation rhésus ou pathologie chirurgicale. Le critère principal de jugement était le nombre de transfusion, les critères secondaires les taux d’hémoglobine à 2, 4 et 6 semaines de vie. Les comorbidités ont été évaluées sur les plans neurologique (hémorragie intraventriculaire, leucomalacie périventriculaire) et digestif (entérocolite ulcéronécrosante).Cinquante-neuf nouveau-nés avec EPOr et 19 sans EPOr ont été inclus. Les 2 groupes étaient comparables pour le poids (p = 0,06) et le taux d’hémoglobine de naissance (p = 0,41). Une seule transfusion était relevée (groupe EPOr). Les taux d’hémoglobine à 2 semaines (p = 0,74), 4 semaines (p = 0,13) et 6 semaines de vie (p = 0,35) étaient similaires. Il n’existait pas de différence significative concernant les comorbidités entre les 2 groupes, tant sur le plan neurologique que digestif.Cette étude rétrospective ne met pas en évidence de bénéfice à traiter par EPOr les prématurés de plus de 30 SA que ce soit en termes de nombre de transfusion ou de taux d’hémoglobine.Human recombinant erythropoietin (rhEPO) has shown a benefit in reducing the number of transfusions in very-low-birth-weight infants. However, no study has reported benefits in older preterms (i.e., 30–32 weeks of gestation [WG]). This study aimed to evaluate the benefit of rhEPO between 30 and 32 WG.Two groups of preterms between 30 and 32 WG were compared in a retrospective study: period 1 with rhEPO (January 2005 to October 2006) and period 2 without rhEPO (November 2006 to May 2007). Newborns with intra-uterine growth retardation, rhesus isoimmunization or surgical procedures were excluded. The main criterion was the number of blood transfusions; the second criterion was hemoglobin at 2, 4 and 6 weeks of life. Morbidity was evaluated on necrotizing enterocolitis, intraventricular hemorrhage (IVH) and periventricular leukomalacia.Fifty-nine newborns receiving rhEPO and 19 not receiving rhEPO (controls) were included. The two groups were similar for birth weight (p = 0.06) and hemoglobin at birth (p = 0.41). Only one child (rhEPO group) needed a transfusion. Hemoglobin at 2 weeks (p = 0.74), 4 weeks (p = 0.13) and 6 weeks (p = 0.35) were not statistically different. There was no difference between the 2 groups for necrotizing enterocolitis, IVH or periventricular leukomalacia.This study did not find any benefit using rhEPO in 30 to 32 WG preterm infants in terms of the number of transfusions or hemoglobin levels.