Marfan Syndrome Incorrectly Diagnosed as Autism

Abstract

Marfan syndrome is a pleiotropic genetic connective tissue disorder most commonly involving the cardiovascular, skeletal, and ocular systems, which have abundant connective tissue. It is not known to affect the central nervous system, therefore developmental delays or cognitive involvement are not typically associated. We present a case of a 2-year-old Hispanic male who was diagnosed with autism spectrum disorder (ASD) because of poor social interaction, lack of eye contact, and speech delays. Several months after the ASD diagnosis and receiving therapies without improvement, he was unexpectedly found to have severe myopia and bilateral ectopia lentis. These findings prompted further evaluation that subsequently led to a clinical and molecular diagnosis of Marfan syndrome. After correction of his refractive error, his social skills and eye contact had significantly improved and his speech gradually caught up and resolved to a normal level for his age. This report emphasizes the need for comprehensive investigation of children with delays to include ocular assessments before determining ASD in the context of developmental delays.