[Periconceptional toxoplasmic seroconversion: about 79 cases]. / Séroconversion toxoplasmique périconceptionnelle : à propos de 79 cas.

OBJECTIVE: Toxoplasmosis is a cosmopolitan zoonose led by an intracellular protozoon, Toxoplasma gondii. Severe fetal consequences can be encountered in case of infection during pregnancy. Since 1978, a specific screening program has been implemented in France during pregnancy. The purpose of our study is to evaluate the fetal consequences of a maternal contamination during the periconceptional period. MATERIAL AND METHODS: We retrospectively analyzed, over a 10-year period, the outcome of all the pregnancies with a suspicion of periconceptional seroconversion. Periconceptional seroconversion was defined as infection occurring during the two months prior to or following the assumed date of the conception. The obstetric care, the fetal ultrasound scan and the neonatal features were all closely looked at. RESULTS: Seventy-nine patients (81 fetus) showed evidence of the diagnosis criteria of periconceptional infection. Three cases (3.8%) of congenital infection were observed: two late miscarriages (at 15 weeks and 24 weeks) and one case of an alive child with infraclinic toxoplasmosis. CONCLUSION: In our study, the rate of congenital toxoplasmosis (3.8%) in the event of a periconceptional infection is slightly above the rate previously described in the literature (0.6 to 3.3%). The rate of miscarriage is also high: 66% in case of congenital infection. A regular ultrasound follow-up until the end of the pregnancy is necessary to ensure the best care available. The decision whether to carry out an amniocentesis is discussed in that case.

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.

Prenatal diagnosis of true mosaic trisomy 7 is rare in amniotic fluid and can be misinterpreted as pseudomosaic. The phenotype is highly variable and may be modified by a maternal uniparental disomy of chromosome 7 leading to mild Russell-Silver syndrome (RSS). We report here the third postnatal case of mosaic trisomy 7 with maternal uniparental disomy of chromosome 7 in a boy presenting a mild RSS. Fetal karyotype performed in amniocentesis for intrauterine growth retardation was considered normal. Mosaic trisomy 7 was diagnosed after birth, on fibroblasts karyotype performed for blaschkolinear pigmentary skin anomalies and failure to thrive. Maternal uniparental disomy of chromosome 7 was observed in blood sample. Retrospectively, trisomic 7 cells were identified in one prenatal long-term flask culture revealing a prenatal diagnosis failure. This report emphasizes the difficulty of assessing fetal mosaicism and distinguishing it from pseudomosaicism in cultured amniocytes. It is important to search for uniparental disomy as an indirect clue of trisomy 7 mosaicism and a major prognosis element. Although there are only few prenatal informative cases, detection of trisomy 7 in amniocentesis appears to be associated with a relatively good outcome when maternal uniparental disomy has been ruled out.

[Relevance of the toxoplasma IgG avidity test in the serological surveillance of pregnant women]. / Intérêt de l'indice d'avidité des IgG pour le diagnostic d'exclusion d'une toxoplasmose récente : comparaison de la trousse Toxo IgG Avidité SFRI à la trousse Toxo IgG Avidity Vidas.

In addition to the serological systematic screening tests, kits to measure the avidity of toxoplasma IgG antibodies are currently available. Since high-avidity IgG toxoplasma antibodies have been shown to exclude recent infection, IgG avidity determination is especially useful in ruling out acute infection having occurred in the 3-4 prior months of pregnancy. We therefore compared the efficacy of two toxoplasma IgG avidity ELISA kits: SFRI (SFRI Laboratoire) and VIDAS Toxo-IgG avidity kit (bioMérieux). The agreement of the results from the 2 commercial assays were analysed using 55 serum samples, in terms of global mother-child Toxoplasma results and outcome, specially with light of the results of Toxoplasma antenatal, postnatal assays and of clinical follow up of children.

[Real-time quantitative PCR for toxoplasmosis diagnosis]. / Apport de la PCR quantitative en temps réel dans le diagnostic de la toxoplasmose congénitale.

Congenital toxoplasmosis results from foetus contamination by Toxoplasma gondii during pregnancy. It is a frequent and severe condition calling for close monitoring of mothers at risk. During the last decades, numerous advances have been made specially in the antenatal diagnosis. The congenital toxoplasmosis diagnosis relies currently on PCR test of amniotic fluid, with a sensitivity of 80%. More recently, real-time quantitative PCR has been developed to improve toxoplasmosis diagnosis. We therefore compared the diagnosis value of quantitative real-time PCR with our conventional PCR-hybridization for the diagnosis of congenital toxoplasmosis.

[Gluthathion synthetase deficit in a newborn infant]. / Déficit en glutathion synthétase (à propos d'un cas).

CASE REPORT: We report an observation of a triplet newborn presenting with haemolysis, metabolic acidosis with no lactic acidosis revealing a glutathione synthetase deficiency. These biological signs were associated with multiple malformations (IUGR, toes hypoplasia and cerebral ventricular anomalies), not described in this disease. CONCLUSION: This rare diagnosis can be confirmed by elevation of urinary 5-oxoproline. Prognosis is linked to diagnosis and treatment precocity. We have no argument to think that the malformations we found are related to a glutathione synthetase deficiency. However, as the neurological evolution is often unfavourable, neuroradiological explorations could give information about the location and severity of potential cerebral lesions.

Duplication of the pituitary gland in a newborn with median cleft face syndrome and nasal teratoma.

A newborn suffered immediate neonatal respiratory distress because of an obstructive, soft-tissue nasal mass. Clinical examination revealed a cleft palate with a protruding polypoid mass. CT and MRI showed a heterogeneous nasopharyngeal mass and associated intracranial abnormalities - duplication of the hypophysis and hypoplasia of the corpus callosum. Duplication of the hypophysis is a very rare malformation, only 13 cases having been previously described. The suggested pathogenesis is duplication of the prechordal plate and anterior end of the notochord during early embryological development.

[Study of developing clinical outbreak and serological rebounds in children with congenital toxoplasmosis and follow-up during the first 2 years of life]. / Etude des poussées cliniques évolutives et des rebonds sérologiques d'enfants atteints de toxoplasmose congénitale et suivis durant les 2 premières années de vie.

BACKGROUND: The survival of T gondii bradyzoites in cysts explains clinical recurrences and serological rebounds after birth in children with congenital toxoplasmosis. At the present time, management of such manifestations is not well defined. PATIENTS AND METHODS: Sixty-three infants with congenital toxoplasmosis were followed-up at the University Hospital of Lille (France) during the first two years of life. For each child, the treatment before and after birth was well defined. Clinical, ophthalmological, radiological and serological data were collected every third month. Serological assays specially adapted to this age bracket were used for the quantification of specific IgG, or for the detection of T gondii specific IgM and IgA. RESULTS: Seventy-six serological rebounds were reported in 55 of the 63 children (87%). They concerned essentially IgG (96%) and less frequently IgM (47%) or IgA (60%). At the same time, only five clinical recurrences were observed, four of them being preceded by a serological rebound. DISCUSSION: Treatment of fetuses or children with pyrimethamine and sulfonamides versus spiramycin alone was associated with a decrease in the frequency of serological rebounds during the first year of life (P < 0.001). Such a therapeutic regimen during the second year of life decreases the appearance of serological rebounds in children without rebound antecedent (P < 0.001). CONCLUSION: The increase in number of rebounds after the end of a course of pyrimethamine and sulfonamides necessitates the evaluation of such a long term treatment without interruption.

Familial peeling skin syndrome with eosinophilia: clinical, histologic, and ultrastructural study of three cases.

OBJECTIVE: The clinicopathologic features of a rare familial form of congenital blister are analyzed to assess what factors could lead to the cutaneous split. METHODS: Three consanguinous newborn babies had a congenital ichthyosis with eosinophilia and elevated total immunoglobulin E. The type and level of the split were studied on skin biopsies performed on the first day of life. RESULTS: The level of the split was located within the corneocytes. Isolated eosinophilic granules were found at this site. Desmosomes and the dermoepidermal junction were intact. Blisters and eosinophilia resolved in 3 weeks, and there was no recurrence during 4 and 6 years of follow-up in two of the patients. CONCLUSION: Peeling skin syndrome is a rare blistering disorder of the newborn that should be recognized because it has a good prognosis. Eosinophils may play an important role in the cutaneous split of this congenital ichthyosis.

[Severe form of neonatal hemolytic disease by anti-Vel allo-immunization]. / Forme sévère de maladie hémolytique néonatale par allo-immunisation anti-Vel.

BACKGROUND: Routine detection of maternal sensitization during pregnancy sometimes reveals alloimmunization by exceptional antigens. CASE REPORT: A first pregnancy was complicated by a severe post-partum anemia in the mother, that required a blood transfusion. Irregular agglutinins were detected during the first trimester of a second pregnancy, for which the father was different from the first. The specific antibody was not identified at that time. The newborn, born at a gestational age of 39 weeks, developed severe jaundice at 3 hours of life, with hemolytic disease, anemia and hepatomegaly. Therapy included two transfusions of packed, washed red cells obtained from the mother on days 7 and 25. Immunologic tests showed that the hemolytic disease of this newborn was due to an anti-Vel alloimmunization. CONCLUSION: Antibodies detected during the pregnancy must be identified in order to manage properly any perinatal problems due to rare antibodies.

[Meconium aspiration syndrome in the region of Nord-Pas-de-Calais. Development of a training program for neonatal resuscitation]. / Le syndrome d'inhalation méconiale dans la région Nord-Pas-de-Calais. Evolution au terme d'une action de formation à la réanimation à la naissance.

In the French region Nord-Pas-de-Calais a Public Health action was undertaken in order to set up a training program for neonatal resuscitation for the maternity-hospitals personnel. The incidence and severity of meconium aspiration among the population of children admitted to the neonatal intensive care unit of Lille University Hospital during two 15 month-periods of time, before and after the training, were compared. The number of neonates who presented with meconium aspiration decreased from 54 during the first period to 9 during the second, i.e. from 7.2 to 1.3% with respect to the total number of hospitalized patients (p less than 0.001). On the contrary, the number of deaths did not decrease significantly. This regression of the meconium aspiration gives evidence for an improved quality of care at birth. Even if training is not the only factor, this evolution gives argument in favour of the efficacy of such actions.

Risk factors for fatal pulmonary interstitial emphysema in neonates.

Among 315 infants treated for respiratory distress syndrome (RDS) over a 2 year period, 32 prematures were studied retrospectively with the diagnosis of pulmonary interstitial emphysema (PIE). Eighteen died. In this group, birth weight below 1600 g, need for oxygen above 0.6 on the 1st day and appearance of bilateral pulmonary interstitial emphysema within the first 48 h of life were significant risk factors, with a mortality rate of 94%. In order to recognize one or more early criteria predictive of fatal PIE, we compared ventilation parameters on day 1 between neonates with fatal PIE and those with the same birth weight and initial severity of RDS but without PIE treated during the same period. High positive inspiratory pressure on day 1 was found to be the most significant parameter associated with further appearance of fatal pulmonary interstitial emphysema. A cut-off level of 26 cm H2O was found to be discriminant. These criteria may be useful in selecting those neonates who might best benefit from a new therapy such as high frequency ventilation, before irreversible lesions appear.

[Non-immunologic hydrops fetalis and congenital chylothorax]. / Anasarque non immunologique et chylothorax congénital.

A child was born at the 37th week of pregnancy with hydrops fetalis. Hydramnios and hydrothorax had been proven by fetal ultrasonography. No fetal or maternal etiology was found. At age 4 days, at the beginning of enteral nutrition, the pleural effusion became characteristic of chylothorax. Recovery occurred after 2 weeks of parenteral nutrition. Chylothorax might be an unrecognized etiology of non immune hydrops fetalis. The relationships between both conditions and the interest of prenatal treatment are discussed.