Abstract
A case report of a four-year-old boy with Smith-Lemli-Opitz syndrome, autosomal recessive disorder caused by mutation of DHCR gene, locus 11q12-q13. The basic defect is an error in a final phase of a cholesterol synthesis determinated by deficiency 7-dehydrocholesterol reductase.
DNA analysis confirmed the composed heterozygot for mutations W151X and C380Y. Clinical manifestation is partially influenceable by a diet with high content of cholesterol.
A special diet has been prepared for the boy, he does not like it yet.