Korean Journal of Pediatrics 2008;51(11):1236-1240.
Published online November 15, 2008.
A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene
Mee Rim Park1, Jung Min Ko1, Chong-Keun Cheon1, Gu-Hwan Kim2, Han-Wook Yoo1
1Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine, Seoul, Korea
2Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan, College of Medicine, Seoul, Korea
7-dehydrocholesterol reductase (DHCR7) 변이로 진단된 Smith-Lemli-Opitz 증후군 1예
박미림1, 고정민1, 전종근1, 김구환2, 유한욱1
1울산의대 서울아산병원 소아청소년과
2울산의대 서울아산병원 의학유전학클리닉
Correspondence: 
Han-Wook Yoo, Email: hwyoo@amc.seoul.kr
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.
Key Words: Smith-Lemli-Opitz syndrome, Multiple malformations, 7-dehydrocholesterol reductase, Cholesterol


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