TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME - RESULTS OF A MULTICENTER TRIAL

Patients with the RSH or Smith-Lemli-Opitz syndrome (SLOS) have an inb orn error of cholesterol biosynthesis which results in a deficiency of cholesterol and an elevation of the cholesterol precursor, 7-dehydroc holesterol. A treatment protocol consisting of administration of chole sterol +/- bile acids was initiated in an attempt to correct the bioch emical abnormalities seen, Fourteen patients (8 female, 6 male: ages 2 months to 15 years) have now been treated for 6-15 months, Three pati ents received cholesterol alone, while 11 patients received cholestero l and one or more bile acids, Biochemical improvement in sterol levels and in the ratio of cholesterol to total sterols was noted in all pat ients. The most marked improvement was noted in patients presenting wi th initial cholesterol levels <40 mg/dl, No toxicity was observed, Cli nical improvement in growth and neurodevelopmental status was also obs erved. (C) 1997 Wiley-Liss, Inc.