Smith-Lemli-Opitz syndrome and autism spectrum disorder.

摘要

The authors discuss the case of a 9-year-old boy who came to the clinic with autism spectrum disorder, intellectual disability, impulsivity, and overactivity. He had bilateral ptosis, upturned nares, and two-to-three toe syndac-tyly. An inborn error of cholesterol synthesis, Smith-Lemli-Opitz syndrome, was identified. The patient was treated with dietary cholesterol supplementation. A report is presented to highlight the importance of suspecting this genetic disorder in the presence of autism spectrum disorder and dysmorphic facial features, minor anomalies, or specific behavioral phenotype features. The clinical features of Smith-Lemli-Opitz syndrome are reviewed, along with recommendations for diagnostic testing for the syndrome. The authors discuss how impairment in cholesterol synthetic pathways may result in