The safety and efficacy of nitric oxide therapy in premature infants.

OBJECTIVES: To assess the safety-efficacy balance of low-dose inhaled nitric oxide (iNO) in hypoxemic premature infants because no sustained beneficial effect has been demonstrated clearly and there are concerns about side effects. STUDY DESIGN: Eight hundred and sixty infants <32 weeks were randomized at birth to receive 5 ppm iNO or placebo when they presented with hypoxemic respiratory failure (HRF) defined by a requirement for mechanical ventilation, fraction of inspired oxygen (FIO 2 ) >40%, and arterio-alveolar ratio in oxygen (aAO 2 ) <0.22. The primary end point was intact survival at 28 days of age. RESULTS: Sixty-one of 415 infants presented with HRF and were compared with 84 of 445 controls who presented with HRF. There was no difference in the primary end point (61.4% in infants [23% with HRF who were treated with iNO] vs 61.1% in controls [21.4% in controls with HRF]; P = .943). For the infants with HRF who were treated with iNO, there was no significant difference from controls for intraventricular hemorrhage (IVH) (6% vs 7%), necrotizing enterocolitis (8% vs 6 %), or patent ductus arteriosus (PDA) (34% vs 37%). Compared with nonhypoxemic infants, the risk of bronchopulmonary displasia (BPD) increased significantly in HRF controls (OR = 3.264 [CI 1.461-7.292]) but not in infants with HRF who were treated with iNO (OR = 1.626 [CI 0.633-4.178]). CONCLUSIONS: iNO appears to be safe in premature infants but did not lead to a significant improvement in intact survival on day 28.

[Kangaroo mother care: bibliographical review on the current attitudes, their interests and their limits]. / Les unités et soins kangourou: revue bibliographique sur les attitudes actuelles, leurs intérêts et leurs limites.

Initiated in 1978 by a Colombian team, then largely adapted in industrialized countries as well as in poor developed countries, the kangaroo mother care (KMC) are known to ensure for low birth weight newborn, a thermoregulation, a good physiological stability and a better relational comfort with their parents. The goal of this work is to make a bibliographical review on current concepts, interests and limits of this method. We re-examined impact of the KMC on the basal metabolism, thermoregulation, growth and evolution of these children. They are helpful in the developing countries but medical safety should not be forgotten. In these countries where there's high frequentation of the services, they are able to regulate body temperature and metabolic adaptation of the newborn. In developed countries, KMC contribute to decrease anxiety of parents and improve the relations with their child. However, it is difficult to recommend their use in current practice. Rigorous randomised studies are necessary to argue their establishment in full safety, to know the neuropsychological development and the real somatic growth on the long term of the children and to known their true economic cost.

[Septic shock due to congenital disseminated toxoplasmosis?]. / Toxoplasmose congénitale disséminée responsable d'un choc septique?

Congenital toxoplasmosis secondary to maternal primary infection acquired late during pregnancy is generally asymptomatic at birth. We report a case of a newborn infant whose mother had been infected between the 27th and the 33rd week of gestation. No treatment had been given during gestation. The infant had a disseminated form of toxoplasmosis with hepatosplenomegaly, pneumonitis, purpura, hepatitis. On the third day of life, he developed shock. The patient died early despite therapy. Septic shock is unusual in congenital toxoplasmosis, although it has been described in immunocompromised patients, notably in patients infected with the human immunodeficiency virus.

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.

UNLABELLED: Costello syndrome was first described in 1971. Besides papillomata, which were part of the initial description, patients tends to develop benign tumours of ectodermal origin. Aetiology is yet unknown but it is supposed to be the result of a sporadic dominant mutation. We report six patients with typical clinical findings and emphasise the importance of cardiac manifestations and the tendency to develop tumours. One patient developed an embryonal rhabdomyosarcoma, the occurrence of which has been reported twice before in patients with Costello syndrome. CONCLUSION: There might be a causal link between the development of rare tumours and this genetic disorder which may provide a new clue concerning the identification of the gene involved in Costello syndrome.

[Cerebral agyria-pachygyria in a child with Werdnig-Hoffmann disease]. / Agyrie-pachygyrie cérébrale chez un enfant atteint d'une maladie de Werdnig-Hoffmann.

Werdnig-Hoffmann disease refers to the severe infantile form of anterior horn cell degeneration. We report an association between Werdnig-Hoffmann disease and agyria-pachygyria. Examples of anterior horn cell disease with lesions in the central nervous system (notably thalamus and cerebellum) have been considered unusual "variants" of Werdnig-Hoffmann disease. This association between Werdnig-Hoffmann disease and agyria-pachygyria has, to our knowledge, never been described.

Anti-P30 IgA antibodies as prenatal markers of congenital toxoplasma infection.

This study extends a previous study and confirms that the detection of anti-P30 IgA antibodies is very helpful in the diagnosis of acute acquired or congenital toxoplasmosis. Moreover, we demonstrate that an anti-P30 IgA response can be mounted in the fetuses infected by Toxoplasma gondii during their intra-uterine life as early as week 23 of gestation. A double-sandwich ELISA described in our previous work was used to detect anti-P30 IgA antibodies in 1378 human serum samples collected from 551 patients, including 162 fetuses whose mothers had been infected by T. gondii during pregnancy, 46 congenitally infected and 90 uninfected newborns and 253 women suspected of having been infected during pregnancy, including the mothers of fetuses and newborns previously described. Anti-P30 IgA antibodies were detected in all cases of acute toxoplasmosis but in no case of chronic toxoplasmosis: in the majority of cases, the IgA antibody titre fell below cut-off in 3-9 months. Among the 46 congenitally infected newborns, anti-P30 IgA antibodies were detected in sera of 41 infected newborns (38 at birth, two in the first months of life, one in the seventh month of life), while anti-P30 IgM antibodies were detected in only 30 cases at birth and in one case during the first month of life. Among 162 fetuses, anti-P30 IgA response was observed in five infected fetuses, but was not detected in either 152 uninfected fetuses or in five fetuses considered as infected. The absence or presence of anti-P30 IgA antibodies in the fetus is discussed in relation to the date of maternal infection and collection of the fetal blood. It clearly appears from our study that the combined testing of both IgM and IgA in the fetus and the newborn is essential for a more efficient diagnosis of infection.

Platelia-Toxo IgA, a new kit for early diagnosis of congenital toxoplasmosis by detection of anti-P30 immunoglobulin A antibodies.

With the aim of achieving earlier diagnosis of congenital toxoplasmosis, anti-P30 immunoglobulin A (IgA) antibodies were assayed by using a Platelia-Toxo IgA kit with samples from 72 children born to mothers who seroconverted during pregnancy. A total of 148 serum samples and 1 cerebrospinal fluid samples were from 23 congenitally infected children (2 serum samples were collected from fetuses), and 74 serum samples were from 49 uninfected children. Among the 23 infected children, anti-P30 IgA antibodies were present in all infants either at birth or in the following weeks, whereas anti-P30 IgM antibodies were present in 13 from the 23 infected children either at birth or in the following weeks. Serum samples collected in utero from two infected children were also tested. One of these samples was positive for both anti-P30 IgA and anti-P30 IgM antibodies, whereas both children were negative at birth for these antibodies. Neither anti-P30 IgA nor anti-P30 IgM antibodies were detected in 47 of 49 uninfected children. These results suggest that detection of anti-P30 IgA antibodies by the Platelia-Toxo IgA kit is a very effective method for early diagnosis of congenital toxoplasma infection.

[Children of hyper- and hypothyroid mothers]. / Les enfants des mères hyper et hypothyroïdiennes.

A multicenter study was able to utilize 120 medical files of children born from mothers who presented an abnormal thyroid function, 67 euthyroid goiters, 29 hyperthyroidisms, and 24 hypothyroidisms. In the first case, whether or not an inhibiting treatment was initiated, all children were perfectly normal. In case of maternal hyperthyroidism, the risk of malformations is not increased, deaths in utero and mostly in utero growth delays (1 case in 2) are more frequent. At birth, the child may present a hyperthyroidism due to the effect of SAT with elevated TSH and a goiter, sometimes compressing and impairing breathing, or also a hyperthyroidism due to transplacental crossing of stimulating immunoglobulins with possibility of thyreotoxic crises and heart failure. The diagnosis could be made in utero in the presence of tachycardia or with T4 and TSH assays in the cord. In case of maternal hypothyroidism, usually the children have no problems and the risk of neonatal hypothyroidism is mostly present in premature infants if the maternal balance is poor (2 in 24 cases in our series). Finally, in the reference population, the risk of neonatal hypothyroidism remains 1 in 3600 and justifies systematic screening on the 5th day of life.

[Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation]. / Syndrome polymalformatif léthal avec délétion 13q secondaire à une translocation maternelle X; 13.

The authors report the case of a newborn full term delivered by cesarean section for evolutive hydrocephalus, in the last month of pregnancy. This hydrocephalus was confirmed by echography after birth. This also having ambiguous genitalia and atresia ani, he died a few hours later. No evidence of infectious or toxic embryofetopathy was found out as an etiologic factor, but the karyotype of the baby showed a 13 q deletion and that of the mother a non reciprocal Xqter; 13q31.3 translocation. The study of inactivation of X indicated that the inactivated X chromosome in each cell was normal. On this occasion, the authors try to bring together the main points of "13q-syndrome" and discuss on the practical approach of antenatal diagnosis which they could propose to the couple.

[Chediak-Higashi disease: a new case treated by bone marrow allograft]. / Maladie de Chediak-Higashi: un nouveau cas traité par allogreffe de moelle osseuse.

We report a new case of Chediak-Higashi disease successfully treated by the transplantation of allogeneic bone marrow. Recurrent infections led to the diagnosis of the disease at the age of 15 months. At two and a half years of age, during a phase of accelerated disease activity, the patient received a bone marrow transplant donated by an HLA-identical brother. The patient was conditioned by chemotherapy alone; T-cells were removed from the graft and cyclosporin A was given to prevent graft-versus-host disease. Evidence of acceptance of the transplant was apparent 14 days after the procedure. Two months after the transplant, the blood count was normal, NK activity was satisfactory and no evidence of GVH disease was present. Incomplete hematopoietic chimerism was found (with two erythrocyte and lymphocyte populations). After four years follow-up, the patient is doing well and has no infections or evidence of active disease.

[Hydrocholecystitis in children and newborn infants. Apropos of 3 cases]. / L'hydrocholécyste chez l'enfant et le nouveau-né. A propos de trois observations.

We report two cases of hydrocholecystitis in children and one in a neonate. One child had hepatitis A and the other had typhoid fever. A beta-hemolytic group B streptococcal infection was found in the neonate. In all three cases, the first manifestation was an abdominal mass and treatment of the causative disease ensured recovery. These three observations provided us with the opportunity for reviewing the literature. Isolated hydrocholecystitis is distinguished from hydrocholecystitis as a symptom. The clinical evaluation and diagnostic investigations are described in detail; special attention is given to abdominal ultrasonography. Etiology and pathophysiology, as well as management are discussed. Our three cases and the review of the literature confirm the benign prognosis of this condition.

[Major malformation syndrome and apparently balanced chromosomal abnormality: holoprosencephaly and 5p; 12q translocation]. / Syndrome malformatif majeur et anomalie chromosomique apparemment équilibrée: holoprosencéphalie et translocation 5p; 12q.

Observation of holoprosencephaly associated to chromosomic aberration (balanced translocation 5p; 12q); genetic council may be difficult in case of familial translocation.

[A difficult cytogenetic diagnosis of 4p monosomy]. / Un diagnostic cytogénétique difficile de monosomie 4p.

Monosomy 4p is rare; cytogenetic diagnosis is difficult when it is not oriented by clinical signs such as severe hypotonia, profound encephalopathy and dysmorphism ("casque de guerrier grec"). Parenteral karyotype is indispensable in case of translocation.