Beneficial effects of dietary supplementation in a disorder with defectivesynthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty

In 1993 the Smith-Lemli-Opitz (SLO) syndrome, known as a malformation syndr ome characterized by certain stigma, turned out to be a metabolic disease w ith a defect in the last step of cholesterol biosynthesis. This led to the possibility of identifying affected individuals by biochemical methods and of increasing understanding of pathogenic mechanisms. Hopes of influencing the effects of the metabolic defect by dietary supplementation were raised and reports with some benefits of treatment have been published. This is a report of a 12-y-old girl with the SLO syndrome in an apparently progressiv e form. In addition to typical signs and well-known symptoms she has a veri fied polyneuropathy and precocious puberty. She has been treated with chole sterol and bile acids for 3 y, during which time the progressive course has been arrested. A notable effect has been the improvement of her polyneurop athy, verified by measurement of nerve conduction velocities. Possible mech anisms involved in the pathogenesis of her precocious puberty are discussed .