ABSTRACT
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