M. Irons et al., TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME - RESULTS OF A MULTICENTER TRIAL, American journal of medical genetics, 68(3), 1997, pp. 311-314
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.