Cholesterol supplementation benefits patients with Smith-Lemli-Opitz syndrome

This study was published in the American Journal of Medical Genetics 1997 Jan 31;68(3):305-10

Study title and authors:
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Elias ER, Irons MB, Hurley AD, Tint GS, Salen G.
Department of Pediatrics, Tufts-New England Medical Center, Boston, Massachusetts, USA.

This study can be accessed at: http://www.ncbi.nlm.nih.gov/pubmed/9024564

Children with the Smith-Lemli-Opitz syndrome have very low cholesterol levels and most are either stillborn or die early because of serious malformations of the central nervous system. Those that survive have a small head size, learning problems and behavioral problems. They tend to grow more slowly than other infants and many affected individuals have fused second and third toes and some have extra fingers or toes.

The problems that occur in Smith-Lemli-Opitz syndrome is because of their very low cholesterol levels. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and the protective substance covering nerve cells (myelin). Also, cholesterol plays a role in the production of vitamin D, certain hormones and bile acids.

The study examined the effects of cholesterol supplementation in children with Smith-Lemli-Opitz syndrome. The trial included six children, age range from birth to 11 years old.

The study found:
(a) Clinical benefits of the cholesterol therapy were seen in all patients, irrespective of their age at the onset of treatment, or the severity of their cholesterol defect. 
(b) The cholesterol therapy improved growth, gave a more rapid developmental progress, a lessening of problem behaviors, older patients progressed to puberty, they had a better tolerance of infection, improvement of gastrointestinal symptoms, and a reduction in photosensitivity and skin rashes
(c) Patients had no adverse reactions to treatment with cholesterol.

The results of the study suggest that cholesterol supplementation benefits patients with Smith-Lemli-Opitz syndrome.

Links to other studies:
The link between low cholesterol and autism
Low cholesterol and suicidal behavior