Smith-Lemli-Opitz syndrome.

Background. - Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive m etabolic affection. Children affected by SLOS exhibit a defect in cholester ol biosynthesis associated with a high concentration of cholesterol precurs or 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymat ic block at the level of Delta-7-DNC reductase. SLOS has been subdivided in to two types on the basis clinical severity: type I is the classic and type II is the severe one. Case report. - A full term female was born from a pregnancy complicated by oligoamniosis and intra-uterine growth retardation. The neurologic status w as immediately impaired with severe hypotonia, absence of reflexes, and abn ormal crying. She exhibited multiple congenital anomalies with a facial dys morphia, anomalies of members, unicornus uterus and a pyloric stenosis. Pla smatic concentration exhibited a normal cholesterolemia contrasting with an elevated level of 7 and 8 DHC. Major alimentary tract defect led to entera l and parenteral nutrition. The serve neurological defect led to death on t he 16th day of life. Conclusion. - Despite normal blood cholesterol levels that can he attribute d to enteral and parental nutrition, the severity of clinical findings and the lethal course permit to classify this case as type II. (C) 1999 Elsevie r, Paris.