Document Detail

Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.
MedLine Citation:
PMID:  11942534     Owner:  NLM     Status:  MEDLINE    
The half-century of lipophobia in the United States may be abating with some return of sanity on the discussion of health and dietary fat [Taubes, 2001]. The youngest victims of this collective, decades long madness are those infants deprived for one reason or another of breast milk. They are unable to speak for themselves at a time of greatest need for cholesterol during growth, the most critical period of myelination of central and peripheral nervous system, formation of bone and bile, and of every steroid hormone. Some of the commercial formulas they are fed contain only 1 or 2 mg of cholesterol per 100 g edible portion contrasted with almost 14 mg in breast milk. One can only hope that the confidence in their endogenous ability to synthesize sufficient amounts of cholesterol is not misplaced. Pediatric pathology has learned that when this endogenous ability fails during embryogenesis on the basis of mutations in the postsqualene biosynthesis of cholesterol, a startling variety of developmental pathology may present itself ranging from lethal forms of "idiopathic" hydrops, microcephaly with cerebral dysgenesis and dysmyelinization, agenesis of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis, adrenal (cortical) insufficiency, cholestatic liver disease, limb malformations, and genital ambiguity in genetic males. Population genetic considerations suggest a hypothetical birth prevalence of the RSH (so-called Smith-Lemli-Opitz) syndrome, the commonest of these Garrodian errors of cholesterol biosynthesis, of 1/2500; since only about 1/15,000 to 1/20,000 homozygotes are liveborn and biochemically confirmed, over 80% prenatal or perinatal mortality must occur and deserves the most discerning of services from birth attendants, perinatologists, neonatologists, and fetal/pediatric pathologists. An easy, reliable, economical biochemical test for the presence of 7-dehydrocholesterol is available and the commonest mutation, the IVS8-1G-->C mutation, is quickly and reliably tested for molecularly. Thus, the successful diagnosis, even after death, will contribute substantially to correct genetic counseling, carrier detection, prenatal diagnosis, and treatment in those known to be affected prenatally andplanned to be liveborn. Thus, developmental pathology plays an integral, vital role in preventive medicine.
John M Opitz; Enid Gilbert-Barness; Jeanie Ackerman; Amy Lowichik
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Pediatric pathology & molecular medicine     Volume:  21     ISSN:  1522-7952     ISO Abbreviation:  Pediatr Pathol Mol Med     Publication Date:    2002 Mar-Apr
Date Detail:
Created Date:  2002-04-10     Completed Date:  2002-10-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100885435     Medline TA:  Pediatr Pathol Mol Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  153-81     Citation Subset:  IM    
Pediatrics (Division of Medical Genetics), University of Utah, Salt Lake City, 84132, USA.
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MeSH Terms
Abortion, Spontaneous
Dehydrocholesterols / metabolism
Gestational Age
Smith-Lemli-Opitz Syndrome / diagnosis*,  genetics
Reg. No./Substance:
0/Dehydrocholesterols; 434-16-2/7-dehydrocholesterol

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