Elias E R, Irons M B, Hurley A D, Tint G S, Salen G
Department of Pediatrics, Tufts-New England Medical Center, Boston, Massachusetts, USA.
Am J Med Genet. 1997 Jan 31;68(3):305-10. doi: 10.1002/(sici)1096-8628(19970131)68:3<305::aid-ajmg11>3.0.co;2-x.
We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-"Smith-Lemli-Opitz" syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging from 8 to 62 mg/dl. Clinical benefits of therapy were seen in all patients, irrespective of age at onset of treatment, or severity of cholesterol defect. Effects of treatment included improved growth, more rapid developmental progress, and a lessening of problem behaviors. Pubertal progression in older patients, a better tolerance of infection, improvement of gastrointestinal symptoms, and a diminution in photosensitivity and skin rashes were also noted. There were no adverse reactions to treatment with cholesterol. This preliminary study suggests that cholesterol supplementation may be of benefit to patients with the SLOS.
我们描述了对6名患有RSH-“史密斯-勒米-奥皮茨”综合征（SLOS）儿童补充胆固醇的临床效果。治疗开始时，这些儿童的年龄从出生到11岁不等，治疗前胆固醇水平在8至62毫克/分升之间。所有患者均出现了治疗的临床益处，无论治疗开始时的年龄或胆固醇缺陷的严重程度如何。治疗效果包括生长改善、发育进程加快以及问题行为减少。还注意到老年患者的青春期进展、对感染的耐受性提高、胃肠道症状改善以及光敏性和皮疹减轻。胆固醇治疗未出现不良反应。这项初步研究表明，补充胆固醇可能对SLOS患者有益。
