Sjogren-Larsson 증후군 1예

Abstract

The Sjogren-Larsson syndrome is genetically determined syndrome with autosomal recessive inheritence and characterized by the three cardinal signs: congenital ichthyosis, spastic di/tetraplegia, and mental retardation. Ocular signs include ectropion, blepharitis, conjunctivitis, keratitis, and macular glistening spot. The authors have experienced a case of Sjogren-Larsson syndrome that showed classical triad and macular glistening spot in a 16 month old boy.