[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. / Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 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. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families.

[Perinatal outcome of monochorionic and dichorionic twin gestations: a study of 775 pregnancies at Reunion Island]. / Morbidité et mortalité périnatale des jumeaux et influence de la chorionicité: expérience de 10ans dans le Sud-Réunion. Étude de 775 grossesses.

OBJECTIVES: To compare the perinatal mortality and morbidity of infants born from monochorionic versus dichorionic twin pregnancies (TP). PATIENTS AND METHODS: Retrospective, comparative study of monochorionic and dichorionic TP over 10 years in the south of Reunion Island. Information regarding demographic, gestational and perinatal variables of mothers and infants was collected from the hospital perinatal database. RESULTS: Six hundred and twenty dichorionic and 155 monochorionic TP were analyzed. In case of monochorionic TP, mothers had higher rates of pregnancy-related hypertension (OR=1.82, 95%CI=[1.02-3.29] ; P=0.03) and hospitalization (OR=1.48, 95%CI=[1.02-2.16]; P=0.03). Newborns from monochorionic TP had higher morbidity for : very preterm birth (birth before 33 weeks gestation) (OR=1.65, 95%CI=[1.02-2.66]; P=0.02), very low birth weight (birth weight<1500g) (OR=1.73, 95%CI=[1.57-3.13]; P<0.001), Apgar<7 at 1 minute (OR=1.76, 95%CI=[1.18-2.61]; P<0.01) and hospitalization (OR=2.08, 95%CI=[1.58-2.73]; P<0.001). Perinatal mortality was also significantly higher (OR=2.47, 95%CI=[1.54-3.94]; P<0.001), as well intrauterine fetal death (OR=3.96, 95%CI=[1.95-8.05]; P<0.001) CONCLUSION: This study confirms that few differences exist among dichorionic and monochorionic TP with regard to maternal morbidity, while neonatal morbidity and mortality are higher in twins born from monochorionic pregnancies.

[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. / Une dysfonction sinusale en rapport avec une nouvelle mutation faux-sens du gène SCN5A.

A 10-year-old child was hospitalized for bradycardia during a viral infection with chikungunya. His history showed unexplored episodes of bradycardia. Cardiologic explorations revealed cardiac sinus node dysfunction (SD). Mutational screening of the SCN5A gene showed that this case was a compound heterozygote for p.Ala735Val and p.Asp1792Asn missense mutants. Five years later, the child underwent a pacemaker insertion after an electrophysiological study performed during an atrial flutter access.

[Collodion baby and respiratory distress syndrome]. / Bébé collodion et syndrome de détresse respiratoire.

The congenital ichthyosis appears mainly in the form of collodion baby. This one can be suspected in case of polyhydramnios associated with a snowy aspect of the amniotic liquid in the antenatal echography. The reported four cases of collodion baby were premature children having presented a respiratory distress syndrome of variable gravity. The pulmonary disease was of multifactorial origin. The outcome was favorable for four children.

[Maternal-fetal chikungunya infection associated with Bernard-Soulier syndrome]. / Infection materno-fœtale à chikungunya associée à un syndrome de Bernard-Soulier.

Neonatal thrombocytopenia may stem from several origins. A newborn was hospitalized on the 3rd day of life with thrombocytopenia likely due to maternofetal autoimmune thrombocytopenia. Two days later, he displayed a chikungunya virus infection, during a severe epidemic on Reunion Island. The characterization of human platelet antigen (HPA) in the parents showed incompatibility in the HPA-3 system; however, no detectable antiHPA-3a antibody was found in the mother's serum. The persistence of moderate thrombocytopenia led to the diagnosis, using flow cytometry, of Bernard-Soulier syndrome (BSS), with no detectable GPIbIX. This case shows that neonatal inherited thrombocytopenia may be difficult to characterize, especially when it is associated with an acquired cause.

[Study of 178 ante partum deaths in 2001-2004 in the southern part of Reunion Island]. / Etude des 178 morts foetales in utero dans le sud de l'île de la Réunion en 2001-2004.

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. The Australasian and New-Zealand classification PSANZ-PDC (2000) was used. Risk factors of fetal death with monofetal pregnancies are determined in comparison with live births. RESULTS: Out of 21.495 total births, 178 APFD were recorded. The main obstetrical risk factors were primiparity (OR 1.6, p = 0.002), maternal age over 34 years (OR 1.6, p = 0.01), hypertensive disorders of pregnancy (OR 3.0, p < .001) and multiple births (OR 2.5, p < 0.001). The great majority of APFD (76%) involved preterm fetuses, of which 61% of very preterm (<33 weeks), and 25% of fetuses were growth retarded (OR 3.9, p < 0.001). Only 8% of cases were considered unexplained. The main etiologies were infectious causes in 26% of cases, vascular fetal growth restriction (18%), specific perinatal conditions (14%) of which one-third were due to cord anomalies, preeclampsia (10%), maternal conditions (8%), congenital anomalies (8%) and ante-partum hemorrhage (7%). We discuss the interests and the limitations of using the Australian and New-Zealand classification PSANZ 2000. Intra-uterine growth retardation is one of the principal risk factors of fetal death. CONCLUSION: Besides well-known obstetrical risk factors such as diabetes, hypertension, multiple pregnancies, all screening of intra-uterine growth retardation in the second trimester of pregnancy should include a special survey in order to minimize the incidence of APFDs.

[Chikungunya infection in pregnancy: Evidence for intrauterine infection in pregnant women and vertical transmission in the parturient. Survey of the Reunion Island outbreak]. / Infection à Chikungunya chez la femme enceinte et risque de transmission materno-foetale.

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. MATERIAL [corrected] AND METHODS. Observations made in 160 pregnant mothers infected by CHIKV between June 1, 2005 and February 28, 2006, in the south of Reunion island were recorded. RESULTS: Three of nine miscarriages before 22 weeks of gestation could be attributed to the virus. 3,829 births took place during this time. Among the 151 infected women, 118 were viremia negative at delivery, and none of the newborns showed any damage. Among the 33 with positive viremia at delivery, 16 newborns (48.5%) presented neonatal Chikungunya. DISCUSSION: Though fetal contamination risks appear to be rare before 22 weeks of gestation, they are potentially dangerous. After 22 weeks gestation, newborns infection occurs if the mother is viremia positive at delivery. Transplacental transmission is suspected, but the pathogenic mechanism remains unknown.

[Congenital varicella: limits of prenatal diagnosis]. / La varicelle congénitale: les limites du diagnostic prénatal.

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. Monthly monitoring was assured by the center for prenatal diagnosis, starting from 23 weeks. At 36 weeks, foetal echography detected liver calcifications, without other lesions. At 38 weeks, the patient went into spontaneous labour and delivered a male baby. The baby presented cicatricial skin lesions all over the body and scalp. The cerebral scan detected calcifications and a bilateral chorioretinitis was noticed. At 12 months, the infant had delayed psychomotor acquisitions, a cerebral cortical atrophy and blindness. CONCLUSION: The presence of fetal liver calcifications after chicken pox in the mother is a seldom reported sign. In our observation, liver calcifications were the single sign of a severe fetal damage.

[Post mortem brain MRI: an alternative for pathology examination in Bourneville tuberous sclerosis of the fetus?]. / IRM cérébrale post mortem: une substitution à l'examen anatomo-pathologique dans la sclérose tubéreuse de Bourneville du foetus?

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. MRI can be usefully employed in the event pathology examination is not feasible.

[Severe cytomegalic inclusions disease in the fetus of a woman immunized before pregnancy]. / Maladie des inclusions cytomégaliques sévères chez le foetus d'une femme immunisée avant la grossesse.

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). Recent publications have reported similar observations with variable viral strains. These findings point out the importance attentive search for ultrasonographic signs suggestive of fetal CMV infection.