Management of neonatal spontaneous intestinal perforation by peritoneal needle aspiration.

OBJECTIVE: To describe conservative management of spontaneous intestinal perforation (SIP) in preterm infants using peritoneal needle aspiration (PNA). STUDY DESIGN: Monocentric retrospective review of SIP cases treated primarily by PNA between 1999 and 2015 (n=31). RESULTS: Mean gestational age was 29.2±2.4 weeks and birthweight 1149±428 g. SIP occurred at 3.7±2.2 days of life. PNA achieved definitive treatment in 18 patients (60%) with a mean of 1.8 (±0.8) procedures. All patients requiring more than three PNAs had secondary laparotomy. Two patients died and five presented severe cerebral lesions. Full enteral feeding was achieved 42±18 days after SIP. Intestinal morbidity included cholestasis (n=6), intestinal stricture (n=1) and growth restriction (n=22). On follow-up (n=25, median=4 years), no severe impairment was noted. Seventeen children (68%) had a normal development. CONCLUSION: PNA as primary therapy for SIP is a viable option, resulting in definitive treatment in 60% of cases, with limited mortality and morbidity.

Evaluation of the management of pregnancies and infants at risk for congenital syphilis: La Réunion, 2008 to 2014.

OBJECTIVE: To evaluate the maternal-fetal management and follow-up of infants at risk for congenital syphilis. STUDY DESIGN: Monocentric retrospective cohort study at the Félix Guyon Hospital, Saint-Denis, La Réunion between January 2008 and December 2014. Management of 38 pregnancies (35 women, 39 fetuses) with a positive syphilis serology was evaluated according to the Centers for Disease Control and Prevention (CDC) guidelines. RESULTS: A total of 68% (n=26) of pregnancies were screened before 16 weeks of gestation, and 26% (n=10) had appropriate treatment. Adverse outcomes were noted in 45% of pregnancies. Neonatal serology was not performed in 7 live-born neonates (19%) and 33 infants were classifiable according to the four CDC scenarios. In the infants, adequate complementary evaluation and appropriate treatment were noted in 42% (n=13) and 55% (n=17) of cases, respectively. Rate of infant follow-up was 76% (n=16). No treatment failure was observed in infants. CONCLUSION: Reinforcement of public health policies and a better sensitization, training and collaboration among perinatal caregivers are warranted given the gaps revealed in our study.

Antenatal presentation of hereditary lymphedema type I.

Fetal edema can present as limited subcutaneous edema, fluid accumulation in body cavities or hydrops fetalis. Hydrops fetalis is the end stage of a variety of fetal/maternal disorders and nonimmune etiology represents more than 3/4 of cases. Lymphatic dysplasia may account for a subset of patients with nonimmune and "idiopathic" hydrops fetalis, fetal chylous ascites or chylothorax. We present two unrelated patients with antenatal features of hereditary lymphedema syndrome, in whom Milroy disease was diagnosed after birth. At least, 20 genes have been identified to cause primary lymphedema, with sometimes antenatal features. Hereditary lymphedema syndrome should be considered in cases of nonimmune hydrops fetalis/fetal edema after ruling out the more common etiologies.

[Prevalence, severity, and predictors of bronchopulmonary dysplasia in a cohort of very preterm infants]. / Prévalence, gravité et facteurs prédictifs de la dysplasie bronchopulmonaire dans une cohorte ultramarine de grands prématurés.

OBJECTIVES: The aim of this retrospective cohort study was to determine the prevalence and severity of BPD and its predictors in a regional cohort of very preterm (VP) infants in Reunion Island. METHODS: All autochthonous VP infants, live-born before the 33rd week of gestation (WG) between 1st January 2008 and 31st December 2009, were eligible for the study. Only VP infants surviving at least 28 days, for whom the parameters were known from birth, were included in the case-control study of predictors of moderate to severe BPD (BPDmo/s). RESULTS: In VP infants less than 33 WG, the rate of overall BPD (3 grades of severity) was 30.7%. Among those who survived 28 days or more, the rate of BPDmo/s was 13.1% (95%CI: 10.2-15.9%). In VP infants less than 32 WG that survived at 36 WG, the prevalence of BPDmo/s was 18.2% (95% CI: 14.2-22.1%). In a fixed-effect logistic model, adjusted for gestational age, postnatal growth, and the mode of ventilation at 24h, 4 key factors were predictive of BDPmo/s: small for gestational age, surfactant, delayed energy intake, and late-onset neonatal infection. In a mixed-effect logistic model adjusted for these same cofactors, the site was associated with BPDmo/s, in line with a center-effect. CONCLUSION: The prevalence of BPDmo/s in the mixed-race population of Reunion Island is consistent with those observed in Europe but were site-specific. In our setting, predictors of individual BPDmo/s are similar to those already identified.

[Severe forms of chikungunya virus infection in a pediatric intensive care unit on Reunion Island]. / Infections graves a virus chikungunya en réanimation pédiatrique a l'ile de La Réunion.

UNLABELLED: In 2005-2006, an unexpected, massive outbreak of chikungunya occurred on Reunion Island, a French overseas territory in the Indian Ocean. This arboviral infection transmitted by a mosquito of the Aedes genus is usually benign. A surprising feature of the Reunion Island epidemic was the occurrence of rare severe forms involving adults as well as children. OBJECTIVES: The purpose of this report is to describe severe forms of chikungunya observed in children hospitalized in a pediatric intensive care unit. PATIENTS AND METHODS: This retrospective single-center study was conducted from January 1st to April 30th, 2006. Children between 1 month and 15 years admitted to the pediatric intensive care unit with proven chikungunya infection were included. RESULTS: A total of 9 children were included. The main manifestations were extensive skin blisters in 5 cases, neurological symptoms (encephalopathy) in 4, cardiac complications (myocarditis, hemodynamic disorders) in 5 and bleeding in 1. Two children died. The causes of death were circulatory failure associated with coma and massive hemorrhage in one case and post-infectious encephalitis in the other. Three survivors present long-term neurologic or dermatologic sequels. DISCUSSION: Severe cases of chikungunya in children provide a stark reminder of the cardiac and neurological tropism of the virus and its hemorrhagic forms with high potential mortality and morbidity. These cases underline the need for personal protection measures and for research to develop specific antiviral therapy and vaccines to prevent potentially lethal forms of the disease.

Tibial developmental field defect in valproic acid embryopathy: Report on three cases.

Prenatal exposure to valproic acid (VA) is associated with an increased risk of congenital malformations, especially limb defects like radial ray defects. Tibial developmental field defect in VA embryopathy remains exceptional. We report on three patients presenting with tibial hypo/aplasia associated with either femoral bifurcation or radial ray defect following prenatal exposure to VA. Femoral bifurcation and tibial agenesis has been described in the Gollop-Wolfgang complex and in the tibial agenesis-ectrodactyly syndrome. Tibial agenesis has also been reported in VACTERL association. The relation between prenatal exposure to VA and tibial agenesis is discussed.

[Chikungunya virus infections in children]. / Infections à virus Chikungunya chez l'enfant.

Chikungunya fever is an arbovirosis caused by an alphavirus (CHIKV) belonging to the Togaviridae family. Its main vectors are Aedes mosquitoes. In its classic form, Chikungunya consists in a flu-like illness that can be very disabling, especially by incapacitating arthralgia. In children, the arthropathy is well known to be better tolerated than in adulthood but severe manifestations and complications can occur owing to neurologic, cardiac, hematologic or cutaneous dysfunctions, all carrying a fatality risk in the absence of appropriate intensive care. Out of these, the most singular is a severe encephalopathy, even in some cases genuine encephalitis. More rare, but quite specific of small infants, skin blisters have been reported, sometimes complicated by extensive detachments. Mother-to-child infections were demonstrated on La Réunion island with a fifty-percent probability of vertical transmission when the mother was highly viremic around the term of pregnancy. The diagnosis can be made by detecting CHIKV RNA using RT-PCR or specific IgM antibodies using MAC-Elisa serology. Chikungunya is a notifiable disease. The epidemic that emerged in Indian Ocean islands during 2005-2006, its progressive extension to Asia and even to Italy in July 2007, highlighted a very important capacity of CHIKV to cause huge outbreaks wherever Aedes sp. can proliferate. In France, Aedes albopictus is definitively endemic in the departments of Alpes-Maritimes since 2004, Corsica since 2005, and Var since 2007. Therefore, the risk of introduction of CHIKV from an epidemic area to Europe and especially in France is real.

One-step management of apple-peel atresia.

PURPOSE: Apple-peel atresia is a rare form of bowel atresia associating proximal jejunal atresia with a typical coil-shaped distal small bowel. Many of the children suffering from this condition are still managed with initial enterostomy followed by delayed anastomosis. PATIENTS AND METHOD: Between 2000 and 2007, we managed four patients with apple-peel atresia. Three by primary anastomosis and one by initial enterostomy with delayed anastomosis. RESULTS: Total duration of total parenteral nutrition (TPN) was an average 109 days. Survival rate was 100% with an average follow-up of 4.3 years. CONCLUSION: Nowadays, the prognosis of apple-peel atresia depends mainly on prolonged TPN-related morbidity rather than immediate postoperative complications. We therefore recommend that those infants affected be managed by primary anastomosis in order to reduce the duration of parenteral nutrition, followed by careful nutrition by teams experienced in neonatal TPN and short bowel syndrome.

[Chikungunya in paediatrics: epidemic of 2005-2006 in Saint-Denis, Reunion Island]. / Aspects pédiatriques de l'épidémie de Chikungunya à l'île de la Réunion.

UNLABELLED: During the southern-hemispheric 2005-2006 summer, Reunion Island was struck by an epidemic of Chikungunya (Chik), which affected more than a third of the overall population. OBJECTIVES: Our objective was to describe pediatric cases of Chick. MATERIAL AND METHODS: We conducted a retrospective descriptive monocentric study of confirmed pediatric cases of Chik recruited at Saint-Denis' departmental hospital during the peak of the epidemic (January 1st to April 30th 2006). RESULTS: Eighty-six children aged 10 days to 18 years were included. In addition to the typical clinical presentation, we observed other phenotypes. Well-known complicated forms with neurologic, cardiac, gastro-intestinal (plus dehydration) involvement were thoroughly investigated using modern medical technology. We observed 2 fatal cases of acute disease in 9-year-old children: death resulted from a central nervous system insult in one case, and multisystemic neurological, cardiac, haemorrhagic involvement in another. Severe acute presentations requiring hospital admission involved mainly children aged less than 6 months, and those with cardiac, skin and neurologic impairment. The study identified 3 cases of epidermolysis bullosa, which to our knowledge, have never been described previously. CONCLUSION: Chik in children warrants further research in order to propose early and appropriate treatments to avoid complications.

[Fryns syndrome. Report on 3 new cases]. / Syndrome de Fryns. Présentation de 3 nouvelles observations.

BACKGROUND: Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies. CASES REPORT: We report on 3 patients with Fryns syndrome in the french Indian Ocean islands (La Réunion and Mayotte islands). Pregnancies were complicated by polyhydramnios. All patients had coarse face, cloudy corneae, cleft lip / palate or high-arched palate, hypoplastic nails and brachytelephalangy. They died in the neonatal period. Two had CDH and 1 did not have a diaphragmatic involvement but a severe respiratory distress syndrome with refractory hypoxemia. Cytogenetic studies of blood lymphocytes and skin fibroblasts were normal. CONCLUSIONS: Fryns syndrome is the most common multiple congenital anomaly associated with CDH. The diagnosis is strongly suggested when CHD and brachytelephalangy are associated. Phenotypes with CDH similar to Fryns syndrome have been described with cytogenetic aberrations with G-banded chromosome analysis and submicroscopic chromosome deletions detected by high resolution karyotyping or array comparative genomic hybridization (CGH). Exclusion of chromosome aberrations (including isochromosome 12p in skin fibroblasts) is needed prior to making the diagnosis of Fryns syndrome. In sporadic cases, high resolution karyotyping or array CGH should be performed for correct diagnosis and genetic counselling.

Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome.