Martín GD, Aquino PAA, Rodríguez VM

Language: Spanish
References: 21
Page: 43-46
PDF size: 727.48 Kb.

ABSTRACT

Smith-Lemli-Opitz syndrome is a congenital cholesterol metabolism error caused by a deficiency in the 7-dehydrocholesterol reductase enzyme. It is clinically characterized by mental retardation and congenital malformations, among them holoprosencephaly that occurs in 5 % of the patients. Most of the cases reported in the literature show classic holoprosencephaly forms and a severe Smith-Lemli-Opitz phenotype and are compound homozygotes or heterozygotes for mutations that cancel enzymatic activity. A female patient with a slight Smith-Lemli-Opitz phenotype and a single central incisor as a minimum holoprosencephaly manifestation is presented. The molecular study demonstrated the presence of two transmembrane mutations, one of them previously undescribed, which preserve a certain degree of functional activity of the enzyme. It is believed that other fetal genetic and/or maternal factors may have contributed to the phenotypic expression.

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