Neurocognitive outcome of children exposed to perinatal mother-to-child Chikungunya virus infection: the CHIMERE cohort study on Reunion Island.

Background: Little is known about the neurocognitive outcome in children exposed to perinatal mother-to-child Chikungunya virus (p-CHIKV) infection.

Methods: The CHIMERE ambispective cohort study compared the neurocognitive function of 33 p-CHIKV-infected children (all but one enrolled retrospectively) at around two years of age with 135 uninfected peers (all enrolled prospectively). Psychomotor development was assessed using the revised Brunet-Lezine scale, examiners blinded to infectious status.

[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation.

[The messenger syndrome].

Since mid 2005 pediatricians of the Groupe hospitalier Sud Reunion de Saint-Pierre have observed a self-imposed requirement to test for mother-to-child transmission of chikungunya. Sanitary authorities refuse to consider such testing as necessary. The risk of mother-to-child transmission was not mentioned in literature of the time.

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.

The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative disease locus in a genetic isolate.

Congenital heart defects in La Réunion Island: a 6-year survey within a EUROCAT-affiliated congenital anomalies registry.

Objectives: This study compares the prevalence and perinatal mortality of congenital heart defects on La Réunion with European (EUROCAT) standards.

Methods And Results: Data were extracted from a EUROCAT-affiliated congenital malformations registry, covering 88,025 births during the period 2002-2007, on the whole island territory. A total of 512 congenital heart defects were registered, including 424 live births, 18 foetal deaths from 16 weeks of gestation, and 70 terminations of pregnancy.

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A (also named SAP), whereas mutations in the gene XIAP underlie XLP type 2 (XLP-2). Here, a comparison of the clinical phenotypes associated with XLP-1 and XLP-2 was performed in cohorts of 33 and 30 patients, respectively.

Chikungunya virus infection during pregnancy, Reunion, France, 2006.

Mother-to-child transmission of chikungunya virus was reported during the 2005-2006 outbreak on Reunion Island, France. To determine the effects of this virus on pregnancy outcomes, we conducted a study of pregnant women in Reunion in 2006. The study population was composed of 1,400 pregnant women (628 uninfected, 658 infected during pregnancy, 27 infected before pregnancy, and 87 infected on unknown dates).

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.

Cockayne syndrome is an autosomal recessive neurodegenerative disorder characterized by a specific defect in the repair of UV-induced DNA lesions. Most cases of Cockayne syndrome are caused by mutations in the CSB gene but the pathophysiological mechanisms are poorly understood. We report the clinical and molecular data of two severely affected Cockayne patients with undetectable CSB protein and mRNA.

Mother-to-child transmission of Chikungunya virus infection.

Background: In 2005-2006 Reunion Island experienced a massive outbreak of chikungunya, a mosquito-borne alphavirus infection. During this epidemic, early neonatal cases were observed with a highly probable mother-to-child transmission.

Methods: A retrospective descriptive study was conducted in 5 neonatal medicine departments.

[Study of 178 ante partum deaths in 2001-2004 in the southern part of Reunion Island].

Introduction: The perinatal mortality rate is 18.5 in the southern part of the Reunion Island (Indian Ocean), of which 2/3 are due to antepartum fetal deaths (APFD).

Methods: During a 4-year period (2001-2004) all APFD from 22 weeks gestation were recorded and analyzed with placental histology, bacteriological samples and autopsies in 27% of cases.

[Early maternal-fetal transmission of the Chikungunya virus].

Introduction: Since the onset of the Chikungunya outbreak in Reunion Island, vertical maternal-fetal transmission of the virus has been observed in newborns, but no such transmission has been demonstrated early during pregnancy. We report here the first three cases of maternal-fetal transmission of the Chikungunya virus (CHIKV) before 16 weeks' gestational age.

Cases: Maternal infections occurred at terms of 12 weeks and 4 days, 15 weeks and 5 days, and 15 weeks and were confirmed by positive findings for specific anti-CHIKV IgM.

[Chikungunya infection in pregnancy: Evidence for intrauterine infection in pregnant women and vertical transmission in the parturient. Survey of the Reunion Island outbreak].

Purpose: Since February 2005, an outbreak of Chikungunya virus (CHIKV) infections occurred in Reunion Island. It is transmitted by the Aedes albopictus mosquito. Neonatal cases observations suggest possible fetal transmission during pregnancy.

[Vertical maternal fetal transmission of the chikungunya virus. Ten cases among 84 pregnant women].

Introduction: In March 2005, an epidemic of chikungunya virus began in the southern portion of Reunion Island (French overseas district in the Indian Ocean) and spread to the northern part of the island at the end of 2005. The Reunion-South Hospital Group observed the first cases of pregnant women infected with the virus in June 2005. We report here for the first time maternal-fetal transmission of this virus.

[Herpetic neonatal hepatitis].

Herpes simplex virus (HSV) infection can affect various organs-systems in the neonatal period. Herpetic hepatitis was seldom reported in the literature. We report on 2 cases.

[Congenital varicella: limits of prenatal diagnosis].

Introduction: Primary varicella infection during pregnancy is uncommon. Fetal varicella syndrome is unusual when varicella occurs after 20 weeks of gestation.

Case Report: A mother contracted chicken pox at 21 weeks and 3 days of gestation.

[Maternal toxoplasmosis before conception and chorioretinitis in twin sisters].

A maternal toxoplasmosis before conception is exceptionally transmitted to the fetus. We report an observation of twin sisters who presented congenital toxoplasmosis with chorioretinitis detected at nine months of age. The anamnesis revealed that the mother had had toxoplasmosis one month before conception.

[Post mortem brain MRI: an alternative for pathology examination in Bourneville tuberous sclerosis of the fetus?].

Antenatal discovery of cardiac rhabdomyomes evokes the diagnosis of Bourneville's disease. Antenatal brain exploration with ultrasonography and magnetic resonance imaging (MRI) can highlight cerebral localizations. In the event of termination of pregnancy, confirmation of the cerebral lesions can be achieved with post mortem MRI as well as pathology examination.

[Severe cytomegalic inclusions disease in the fetus of a woman immunized before pregnancy].

After detection of a fetal microcephaly at 24 weeks gestation, we performed an amniocentesis at 29 weeks with chromosomal and polymerase chain reaction (PCR) search for viral contamination. Cytomegalovirus (CMV) infection was confirmed by PCR although the mother had previously been tested as immunized for CMV prior to conception. Abortion was induced; the fetus presented clinical CMV injuries confirmed by positive tissue culture (liver, brain and lungs).

[Clinical aspects and genetic specificities of cystic fibrosis in Reunion Island].

Objectives: Evaluation of the phenotype-genotype correlation of a specific mucoviscidosis mutation, "Y122X", in Reunion Island. This mutation represents 25% of our cases.

Patients And Methods: Retrospective study of a cohort of 84 children presenting cystic fibrosis (CF) during a 5-year period (1994-1998).

Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy.

The Jarcho-Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho-Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child.

[Clinical study and prevalence of fetal alcohol syndrome in medico-social institutions of the Reunion Island].

Background: Fetal alcohol syndrome (FAS) is a major problem in the Reunion Island and the Public Health Authorities decided to determine its prevalence in their medico-social centers on 31 December 1996.

Material And Methods: A questionnaire was established to identify affected patients in the 20 medico-social centers in charge of 1320 children. Eighty-eight children were selected and 87 could be analyzed.

Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease. Molecular analysis of the phytanoyl-coenzyme A hydroxylase gene revealed a homozygous deletion causing a frameshift. Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the liver showed a reduced number of peroxisomes per cell and a larger average peroxisome size.

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Townes-Brocks syndrome (TBS) is an autosomal dominant developmental disorder characterized by anal and thumb malformations and by ear anomalies that can affect the three compartments and usually lead to hearing loss. The gene underlying TBS, SALL1, is a human homolog of the Drosophila spalt gene which encodes a transcription factor. A search for SALL1 mutations undertaken in 11 unrelated affected individuals (five familial and six sporadic cases) led to the detection of mutations in nine of them.