Smith-Lemli-Opitz Syndrome: case report and literature review

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María del Rocío Pérez Crespo
Ana Vidal Esteban
Lidia Brea Prieto
Cristina Serrano Riolobos
Ainhoa Martín Arévalob
Abdulkareem Alarabe Alarabeb

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.

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How to Cite
Pérez Crespo, M. del R., Vidal Esteban, A., Brea Prieto, L., Serrano Riolobos, C., Martín Arévalob, A., & Alarabe Alarabeb, A. (2018). Smith-Lemli-Opitz Syndrome: case report and literature review. Pediatría, 51(2), 43–47. https://doi.org/10.14295/pediatr.v51i2.115
Section
Case report

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