title: Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis.
abstract: The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive condition that is characterized by a mutation in the DHCR7 encoding the 7-dehydrocholesterol-Δ7 reductase, the enzyme that catalyzes the last step in cholesterol biosynthesis. The syndrome occurs in 1:20,000 newborns with an estimated gene carrier frequency in US Caucasian population of 1 to 2%. The severe form of SLOS in newborns leads to multiple malformations and mental retardation. The malformations present were facial dysmorphisms, cleft palate, congenital heart disease, genitourinary abnormalities, and syndactyly of the toes. The identification of the biochemical basis of SLOS has led to the development of therapeutic regimes based on dietary cholesterol supplementation. In this case report, we present a case of SLOS that was treated by fresh frozen plasma to increase the level of serum Cholesterol since oral and rectal cholesterol replacement was not possible in this instance.
authors.affiliation: Department of Pathology and Laboratory Medicine, Geisinger Medical Center, Danville, PA, USA Fboctor@gmail.com.
authors.forename: Fouad N
authors.initials: FN
authors.lastname: Boctor
authors.affiliation: Department of Pathology and Laboratory Medicine, Geisinger Medical Center, Danville, PA, USA.
authors.forename: Myra L
authors.initials: ML
authors.lastname: Wilkerson
mesh_terms: D002784:Cholesterol / Q000097:blood / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D019082:Smith-Lemli-Opitz Syndrome / Q000628:therapy*; D055815:Young Adult
chemical_list: D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase