TREATMENT OF CHOLESTEROL DEFECT IN SMITH LEMLI OPITZ SYNDROME

患有Smith-Lemli-Opitz （SLO）综合征的儿童有严重的胆固醇缺乏，这是由先天的胆固醇合成途径代谢错误引起的。患有SLO的儿童有多种出生缺陷和复杂的医疗问题，包括严重的生长衰竭、智力迟钝、内分泌、皮肤、血液和行为问题。该方案包括以浓缩悬浮液的形式给予纯胆固醇，以努力提高胆固醇水平，并降低前体7-脱氢胆固醇的积累。胆固醇是肠内给药（po或pg）。胆固醇缺乏对多个器官系统有影响。将对方案患者进行随访，以确定胆固醇治疗是否影响生长、发育、行为、血液学、皮肤病和内分泌状况。

Children with Smith-Lemli-Opitz (SLO) Syndrome have a severe cholesterol deficiency, caused by an inborn error of metabolism in the cholesterol synthetic pathway. Children with SLO have multiple birth defects and complex medical problems including severe growth failure, mental retardation, endocrine, dermatologic, hematologic, and behavioral problems. This protocol involves giving pure cholesterol in the form of a concentrated suspension, in an effort to raise cholesterol levels, and lower accumulation of the precurson, 7-dehydrocholesterol. The cholesterol is administered enterally (po or pg). Cholesterol deficiency has effects on multiple organ systems. Patients on protocol will be followed to determine if cholesterol treatment effects growth, development, behavior, hematologic, dermatologic and endocrine status.