Tay-sachs disease among the arabs

We report on a three-year-old Kuwaiti boy with the aim of making pediatricians and geneticists aware of the clinical and biochemical findings of infantile Tay-Sachs disease [TSD] in Arab populations. It is essential that there is no delay in establishing the diagnosis in order to ensure appropriate genetic counseling. The boy was first evaluated when he was 17 months old with profound hypotonia and significant global developmental delay and he died at the ago of three years. The clinical and biochemical findings of this patient are compared with other reported Arab cases to illustrate that TSD exists amongst Arabs with an unknown incidence and probably is more common than thought previously. There isa need for additional research to delineate molecular phenotypes of this disorder in Arabs and to offer carrier detection especially in high-risk families

Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile: 1988-1998 / Prevalence of congenital malformations and associated factors in Easter Island, Chile

Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To study the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample