Síndrome de Smith-Lemli-Opitz: Revisión de la literatura a propósito de un caso

Abstract

Skin reactions induced by drugs in pediatrics are rare entities; However, these are associated Smith-Lemli-Opitz syndrome is an autosomal recessive disorder characterized by multiple congenital malformation, intellectual disability and behavioral problems. It is due to mutations of DHCR7 with a deficiency of 7-dehydrocholesterol reductase. This enzyme catalyzes the reduction of 7-dehydrocholesterol to cholesterol. Therefore, it results inincreased 7-dehydrocholesterol levels and other cholesterol precursors, and decreased cholesterol levels in blood and biological tissues. Its phenotypic spectrum varies broadly with characteristic physical malformations such as microcephaly, characteristic face, genital abnormalities in male patients, intellectual disability and syndactyly of the second and third toes. The clinical diagnosis is confirmed by finding elevated 7-dehydrocholesterol and mutations in DHCR7, and prenatal diagnosis is also possible. The treatment is a symptomatic treatment and dietary cholesterol supplementation is beneficial. On the other hand, other therapies are being studied such as simvastatin treatment and antioxidant supplementation.