[Use of dried blood spots in early diagnosis of HIV-1 infection in children born to HIV-infected mothers as part of the prevention of mother-to-child transmission in Benin]. / Utilisation des prélèvements capillaires sur buvard dans le diagnostic précoce de l'infection à VIH-1 chez des enfants nés de mères infectées dans le cadre de la prévention de la transmission mère-enfant au Bénin.

The goal of this study was to evaluate using the molecular diagnosis, infection transmission rate of HIV in children born to HIV-1 positive mothers as part of the prevention of mother-to-child transmission (PMTCT) in Benin. The sample consisted of 524 dried blood spots (DBS) of children born to HIV-1 positive mothers, from 30 sites (PMTCT) taken between October 2009 and June 2010. The diagnosis of HIV-1 was performed by the qualitative detection of viral nucleic acids (RNA and DNA) in DBS on filter paper using the Abbott RealTime(®) HIV-1 Qualitative assay. We found that 51 DBS were positive (9.7%) and 473 were negative (90.3%). The failure rate of PMTCT among 420 mothers who received antiretroviral prophylaxis was 6.7% (28/420). This failure rate was significantly higher among children born to infected mothers on antiretroviral monotherapy than on triple therapy (HAART). The results of our study enrich the data in the literature on highly active antiretroviral chemoprophylaxis to reduce the transmission of HIV-1 from mother to child.

[Role of severe anemia and hypoglycemia in severe malaria's mortality in children in a pediatric ward in Parakou (Benin)]. / Role de l'anemie severe et de l'hypoglycemie dans la mortalite du paludisme grave de l'enfant en milieu hospitalier a Parakou (Benin).

AIMS: In this study, the objective was to determine the proportion of severe anemia and hypoglycemia in severe malaria in children and to identify factors influencing death. PATIENTS AND METHODS: This is a descriptive and analytic cross-sectional study with prospectively collected data from January to December 2009. It included children from one month to fourteen years of age hospitalized in the Parakou Regional Hospital Center in Benin for severe malaria according to the World Health Organization (WHO) criteria. RESULTS: Among the 1838 cases, 968 cases (52.6%) had either severe anemia or hypoglycemia or both. Among these, 89% were under 5 years. Biologically, the mean parasite density was 40 062/mm3 and the mean hemoglobin rate was 4.94 g/dl. The average blood glucose was 0.45 g/l. The mortality rate was 8.2%. Death occurrence rate was significantly higher in under five children's group hospitalized for severe anemia and/or hypoglycemia compared to those of the same age group with others forms of severe malaria (p=0,000081). CONCLUSION: This work suggests the importance of hypoglycemia and anemia among factors associated with death in children's severe malaria.

BUTS: Dans cette étude, l'objectif était de déterminer la part des anémies sévères et des hypoglycémies dans le paludisme grave de l'enfant et d'identifier les facteurs influençant le décès. PATIENTS ET MÉTHODES: Il s'est agit d'une étude transversale descriptive et analytique menée de Janvier à Décembre 2009. Elle a inclus les enfants de un mois à quatorze ans révolus hospitalisés dans le Service de Pédiatrie du Centre Hospitalier du Borgou à Parakou (Bénin) pour paludisme grave selon la définition de l'Organisation Mondiale de la Santé (OMS). RÉSULTATS: Parmi les 1838 cas, 968 cas (52,6%) avaient présenté soit une anémie sévère, soit une hypoglycémie, soit les deux à la fois. Le taux d'hémoglobine moyen était de 4,94 g/dl avec une glycémie moyenne de 0,45g/l. Le taux de décès était de 8,2%. CONCLUSION: Ce travail a confirmé l'importance de l'hypoglycémie et de l'anémie parmi les facteurs associés au décès au cours du paludisme grave de l'enfant.

[Limbs and forarms agenesy associated in infant: an observation]. / Agenesie des avant bras et des jambes: une malformation rarissime.

Growth disorders are frequent in human and are represented mainly by malformation recognizable pre and postnatally. These malformations contribute to infant morbidity and mortality. They could occur in any organ and system. While seated in limbs, they could lead to severe functional difficulties as it was seen in this observation with forearm and legs agenesis. No case was reported before in Benin.

Les anomalies de développement sont fréquentes dans l'espèce humaine et se manifestent surtout par des malformations reconnaissables avant et après la naissance. Elles participent pour une part non négligeable à la morbidité et la mortalité infantile. Elles peuvent toucher tous les organes et systèmes. Lorsqu'elles siègent au niveau des membres, elles peuvent déterminer des séquelles fonctionnelles gravissimes comme c'est le cas dans cette observation que nous rapportons marquée par une agénésie des avant-bras et des jambes. Une telle anomalie n'a jamais été rapportée par le passé au Bénin.

Iatrogenic retractile quadriceps fibrosis within children in Benin: epidemiological, clinical, therapeutical aspects.

BACKGROUND: In tropical countries, iatrogenic retractile quadriceps fibrosis (IRQF), the cause of walking handicap in children, is often the result of intraquadricipital injection of quinine salts. The aim of this review was to analyse the epidemiological, clinical, therapeutic aspects and outcome of IRQF in children admitted in three hospitals in Benin Republic. PATIENTS AND METHODS: It was a 10-year retrospective, descriptive and analytic survey of IRQF, involving 81 children aged from 8 months to 15 years. Iterative mobilization of the knee (IMK) or modified distal quadriceps plasty by Thompson-Payr's technique (MDQTPT), with a POP on the knee in flexion position, was performed with additional functional rehabilitation. The results were evaluated on knee flexion gain and walking quality. Data were processed using Epi Info 3.2 software. RESULTS: Patients' average age was 7.60 years. Children of 6-10 years were most affected; sex ratio was 1.02. Lesions were unilateral (71.6%) and bilateral (28.4%). The knees' stiffness was in flexion (10.57%), rectitude (64.42%) and recurvatum (25%). The amyotrophy of the thigh was found in 79.42 %. The IMK was successful in eight cases (7.69 %) and the MDQTPT was done in 98 cases (94.23%) associated with femoral osteotomy in 13 cases (12.50%). In post-surgical period, skin necrosis and fractures occurred respectively in 15.31% and 5.10%. Results were good in 92.31% of cases. CONCLUSIONS: IRQF in children do exist in our settings. The treatment that is based on MDQTPT associated to rehabilitation leads to acceptable outcome.

[Profile of HIV-infected children at the National University Hospital of Cotonou (CNHU)]. / Profil des enfants infectes par le vih suivis au centre National Hospitalier et Universitaire (CNHU) de Cotonou.

OBJECTIVE: To describe the profile of HIV-infected children. METHODS: This was a cross-sectional, descriptive and analytic study involving 317 infected children, monitored from January 1st, 2002 to July 31st, 2010 at CNHU of Cotonou. RESULTS: The average age was 89.1 months with a sex ratio of 0.91. Orphans of at least one parent represented 31.3% of cases. Vertical transmission was predominant (86.1%). Only 9.5% of patients benefited from PMTCT. They were all infected with HIV 1. According to the WHO classification, 52% were at stage 3 or 4 and 56% had advanced to severe immunodeficiency. 61% had suffered from opportunistic infections, and 53% had benefited from antiretroviral therapy. Following the study, 54% of participants had continued follow-up visits, 23% lost contact with the CNHU, 18% died and 5% were referred to another site. Factors associated with outcome were antiretroviral therapy (p < 0.0001), clinical (p < 0.0001) and immunological stage (p = 0.0042) on admission. CONCLUSION: Our findings suggest strengthening the PMTCT program, screening and early management of an HIV infection.

OBJECTIF: Décrire le profil des enfants infectés par le VIH. PATIENTS ET MÉTHODES: Etude transversale, descriptive et analytique portant sur 317 enfants infectés, suivis de Janvier 2002 à Juillet 2010. RÉSULTATS: L'âge moyen des enfants était de 89,1 mois ; le sex ratio de 0,91. Ils étaient orphelins d'au moins un parent dans 31,3% des cas. La transmission était essentiellement verticale (86,1%). Seulement 9,5% avaient bénéficié d'une prophylaxie antirétrovirale pour la PTME. Ils étaient tous infectés par le VIH 1. Selon la classification de l'OMS, 52% étaient à un stade clinique 3 ou 4 et 56% avaient un déficit immunitaire important ou sévère. 61% avaient souffert d'infections opportunistes, et 53% avaient bénéficié du traitement antirétroviral. Quant à leur devenir, 54% avaient continué le suivi, 23% étaient perdus de vue, 18% étaient décédés et 5% transférés sur un autre site de prise en charge. Les facteurs associés au devenir étaient le traitement antirétroviral (p < 0,0001), les stades clinique (p < 0,0001) et immunologique (p = 0,0042) à l'admission. CONCLUSION: Ce profil suggère le renforcement du programme de la PTME, un dépistage et une prise en charge précoces.

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids. Type I refers to BPES with female infertility from premature ovarian failure while type II is limited to the ocular features. A causative gene, FOXL2, has been localized to 3q23. We report a black female who carried a de novo chromosomal translocation and 3.13 Mb deletion at 3q23, 1.2 Mb 5' to FOXL2. This suggests the presence of distant cis regulatory elements at the extended FOXL2 locus. In spite of 21 protein coding genes in the 3.13 Mb deleted segment, the patient had no other malformation and a strictly normal psychomotor development at age 2.5 years. Our observation confirms panethnicity of BPES and adds to the knowledge of the complex cis regulation of human FOXL2 gene expression.

Femoral hypoplasia-unusual facies syndrome in a black African infant.

The femoral hypoplasia-unusual facies syndrome is a very rare association of femora and facial abnormalities. The most common features include hypoplasia of the femora and a characteristic facies with a short nose, long philtrum, thin upper lip and micrognathia. Maternal diabetes mellitus has been mainly identified as the causal agent. We reported the first case in a black African and discuss prenatal diagnosis and aetiology.

[Pleural effusion in children at the National Hospital Center and University of Cotonou: epidemiological, clinical and therapeutic aspects]. / Pleuresie chez l'enfant au Centre National Hospitalier et Universitaire de Cotonou: aspects epidemiologiques, cliniques, paracliniques et therapeutiques.

AIM: To study the epidemiologic, clinic, biologic and therapeutics aspects of pleural effusion at National university healty center (CNHU) of Cotonou. METHOD: From January 2004 to December 2008, we have conduct a retrospective study in the pediatric service of Cotonou's CNHU. 15 children less than 5 years old were included in the study. A chest X ray radiography have been done for all the children at the hospitalization. Epi info and chi square test were used for the statistical study. RESULT: Pleural effusion's incidence is growing in the service and in this statement children old less than 5 years are more concerned. Fever, chest and abdominal complaints were the most clinical sign.The diagnosis of pleural effusion was established in 56.3% and Staphylococcus aureus was found. Antibiotic, pleural puncture and blood transfusion were used as therapeutics method. Mortality rate was 5.6%. In conclusion, pleural effusion management in Cotonou CHNU is suffering by the etiologic diagnosis of the disease.

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamilial phenotypic variability. The key features in this syndrome are microphthalmia, enamel hypoplasia and syndactyly of the 4th-5th fingers. ODDD is caused by mutations in the connexin 43 gene (GJA1). We report here four patients from three families with GJA1 mutations, one of them diagnosed prenatally. The three mutations (c.52T > C/p.Ser18Pro, c.689_690delTA/p.Tyr230CysfsX6, c.442C > G/p.Arg148Gly) have been reported once before. Two patients had white matter hypersignal anomalies, associated in one case with mental retardation, but asymptomatic in the other one, an observation that leads us to discuss systematic neuroradiological imaging for ODDD. One case has optic atrophy, another has hypospadias. The patient carrying a truncating mutation of Cx43 did not have palmoplantar keratoderma, in contradiction with the previously suggested genotype-phenotype correlation between truncating mutation and skin involvement.

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the disorder in this family. The particularly severe phenotype, the amelogenesis imperfecta, and the carbapatite deposit observed in these patients, seem to be characteristic of our observations.

Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings.

Ring chromosome 4 associates concomitant loss of the telomeric 4p and 4q regions and leads to variable clinical manifestations depending on the size of the deleted chromosomal material. We report on a patient with ring chromosome 4, showing the Wolf-Hirshhorn Syndrome (WHS) phenotype and minor symptoms of distal 4q deletion syndrome; the severity of the signs of WHS masks the symptomatology of the 4q deletion syndrome. The absence of seizures despite the absence of the specific 4p16.3 region with haploinsufficiency of the LETM1 gene is striking. The double telomeric deletion due to the ring chromosome formation confirmed by FISH has been rarely described in WHS.