RESUMO
Background: Hypotrophy is a major contributor to neonatal mortality and morbidity in underdeveloped countries. In Madagascar, efforts have been made to improve this situation, particularly with regard to prevention and early treatment. This prevention is mainly focused on the search for determining factors. Fetal Alcohol Syndrome (FAS) is not yet mentioned in Madagascar although more than 9% of Tananarivian women drink alcohol. A study was conducted in our department to determine the relationship between maternal alcohol intake and hypotrophy.Methods: The prospective study was carried out in the pediatrics department of the Joseph Raseta Befelatanana University Hospital Centre, on hospitalized hypotrophic newborns (below the 10th percentile) over a period of 3 months from December 1, 2018 to February 31, 2019. In the newborn, authors studied facial features, neurological abnormalities and associated malformations. For the mother, alcohol consumption, pregnancy information was analyzed. The character of FAS could thus be classified.Results: Author counted 21 hypotrophs among the 128 newborns hospitalized during this period. The facial abnormalities observed were: upper lip thickness abnormality (9.5%) and retrognathism (4.7%). Neurological signs described were: difficulty sucking (76.1%), hypotonia (66.6%), restlessness (9.5%), hyper-responsiveness (9.5%), hypertonia (9.5%) and tremor (4.7%). Two organ malformations (9.5%) were seen: cardiac and biliary tract malformations. Only one mother (4.7%) admitted having taken alcohol during pregnancy. Seven cases of familial alcoholism were reported. At the end of this study, we were able to identify only one case of doubtful FAS (4.7%), 2 cases of suspected FAS (9.5%) and 1 case of confirmed FAS (4.7%).Conclusions: This syndrome remains under-diagnosed in Madagascar due to the lack of staff training on FAS and the non-systematization of the search for its signs during systematic visits.
RESUMO
El Síndrome del Anillo del Cromosoma 18 (18 [(r)18]) es un trastorno cromosómico que se incluye dentro de las anomalías estructurales desequilibradas donde dicho cromosoma se encuentra en forma de anillo el cual resulta de la pérdida simultánea de ambos segmentos terminales de los brazos corto y largo con la subsecuente fusión de sus extremos, constituyendo una estructura circular que microscópicamente se asemeja a un anillo, de allí su nomenclatura r (del inglés ring, que significa anillo). Tiene una incidencia de 1/40.000 nacidos vivos y hasta la fecha se han reportado aproximadamente entre 80 a 100 casos a nivel mundial sin embargo sólo existen alrededor de nueve reportes de r(18) en mosaico, aislado o asociado con otras alteraciones cromosómicas. A continuación, se presenta el caso de una paciente pediátrica con Síndrome del Anillo del cromosoma 18 estudiado y diagnosticado en la Unidad de Genética Médica de la Universidad Centroccidental Lisandro Alvarado en Barquisimeto, Venezuela, con la correspondiente revisión de la literatura relacionada con este síndrome(AU)
Chromosome 18 Ring Syndrome (18 [(r) 18]) is a chromosomal disorder that is included among the unbalanced structural anomalies in which chromosome 18 has a ring form which results from the simultaneous loss of both terminal segments of the short and long arms with the subsequent fusion of their ends forming a circular structure that microscopically resembles a ring, hence its nomenclature r (of the English ring, which means ring).18r Syndrome has an incidence of 1/40,000 live births; to date approximately 80-100 cases worldwide have been reported. There are only about nine reports of r(18) in mosaic, isolated or associated with other chromosomal alterations. We present a case of a pediatric patient with Chromosome 18 Ring Syndrome, evaluated and diagnosed in the Unidad de Genética Médica of the Universidad Centroccidental Lisandro Alvarado in Barquisimeto, Venezuela with the corresponding review of the literature(AU)