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1.
Rev Neurol (Paris) ; 169(8-9): 603-12, 2013.
Artigo em Francês | MEDLINE | ID: mdl-24011642

RESUMO

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.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/fisiopatologia , Proteínas de Membrana/genética , Mutação , Adulto , Doença de Charcot-Marie-Tooth/diagnóstico , Criança , Pré-Escolar , Estudos de Coortes , Eletrofisiologia , Família , Feminino , França , Humanos , Lactente , Masculino , Reunião , Adulto Jovem
2.
J Gynecol Obstet Biol Reprod (Paris) ; 35(7): 665-72, 2006 Nov.
Artigo em Francês | MEDLINE | ID: mdl-17088766

RESUMO

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.


Assuntos
Morte Fetal/epidemiologia , Adulto , Causas de Morte , Feminino , Humanos , Gravidez , Reunião/epidemiologia , Fatores de Risco
3.
J Gynecol Obstet Biol Reprod (Paris) ; 35(6): 578-83, 2006 Oct.
Artigo em Francês | MEDLINE | ID: mdl-17003745

RESUMO

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.


Assuntos
Infecções por Alphavirus/epidemiologia , Infecções por Alphavirus/transmissão , Vírus Chikungunya , Transmissão Vertical de Doenças Infecciosas , Complicações Infecciosas na Gravidez/virologia , Aborto Espontâneo/virologia , Aedes , Animais , Parto Obstétrico , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Insetos Vetores , Gravidez , Reunião/epidemiologia , Fatores de Risco , Doenças Uterinas/virologia , Viremia
4.
Arch Pediatr ; 12(9): 1361-3, 2005 Sep.
Artigo em Francês | MEDLINE | ID: mdl-15935630

RESUMO

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.


Assuntos
Varicela/congênito , Doenças Fetais/diagnóstico por imagem , Complicações Infecciosas na Gravidez , Ultrassonografia Pré-Natal , Encefalopatias/congênito , Encefalopatias/virologia , Calcinose/congênito , Calcinose/diagnóstico por imagem , Varicela/diagnóstico por imagem , Coriorretinite/congênito , Coriorretinite/virologia , Feminino , Doenças Fetais/virologia , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido , Hepatopatias/diagnóstico por imagem , Masculino , Gravidez
5.
J Gynecol Obstet Biol Reprod (Paris) ; 32(8 Pt 1): 745-7, 2003 Dec.
Artigo em Francês | MEDLINE | ID: mdl-15067900

RESUMO

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.


Assuntos
Infecções por Citomegalovirus/complicações , Citomegalovirus/imunologia , Doenças Fetais/diagnóstico , Complicações Infecciosas na Gravidez/virologia , Diagnóstico Pré-Natal/métodos , Vacinas Virais/administração & dosagem , Aborto Induzido , Adulto , Amniocentese , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/prevenção & controle , Feminino , Humanos , Microcefalia/diagnóstico , Microcefalia/virologia , Gravidez
6.
J Gynecol Obstet Biol Reprod (Paris) ; 33(3): 245-7, 2004 May.
Artigo em Francês | MEDLINE | ID: mdl-15170440

RESUMO

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.


Assuntos
Autopsia , Encéfalo/patologia , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Esclerose Tuberosa/patologia , Adulto , Ecoencefalografia , Feminino , Humanos , Gravidez , Esclerose Tuberosa/diagnóstico , Ultrassonografia Pré-Natal
7.
J Gynecol Obstet Biol Reprod (Paris) ; 42(7): 655-61, 2013 Nov.
Artigo em Francês | MEDLINE | ID: mdl-23562794

RESUMO

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.


Assuntos
Córion , Resultado da Gravidez , Gravidez de Gêmeos , Adolescente , Adulto , Peso ao Nascer , Doenças em Gêmeos/epidemiologia , Feminino , Morte Fetal/epidemiologia , Idade Gestacional , Hospitalização/estatística & dados numéricos , Humanos , Hipertensão Induzida pela Gravidez/epidemiologia , Recém-Nascido , Mortalidade Perinatal , Gravidez , Nascimento Prematuro/epidemiologia , Estudos Retrospectivos , Reunião/epidemiologia , Adulto Jovem
8.
J Gynecol Obstet Biol Reprod (Paris) ; 41(1): 88-91, 2012 Feb.
Artigo em Francês | MEDLINE | ID: mdl-21733637

RESUMO

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.


Assuntos
Eritrodermia Ictiosiforme Congênita/complicações , Síndrome do Desconforto Respiratório do Recém-Nascido/complicações , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/patologia , Recém-Nascido , Recém-Nascido Prematuro , Masculino
9.
Arch Pediatr ; 19(8): 837-41, 2012 Aug.
Artigo em Francês | MEDLINE | ID: mdl-22795782

RESUMO

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.


Assuntos
Mutação de Sentido Incorreto , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Síndrome do Nó Sinusal/genética , Bradicardia/etiologia , Criança , Heterozigoto , Humanos , Masculino , Síndrome do Nó Sinusal/diagnóstico
10.
Arch Pediatr ; 18(3): 272-5, 2011 Mar.
Artigo em Francês | MEDLINE | ID: mdl-21269816

RESUMO

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.


Assuntos
Síndrome de Bernard-Soulier/diagnóstico , Trombocitopenia/etiologia , Infecções por Alphavirus/diagnóstico , Febre de Chikungunya , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Masculino , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico
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