All issues > Volume 37(12); 1994

Case Report

J Korean Pediatr Soc. 1994;37(12):1757-1761. Published online December 15, 1994.

A Case of Sjören-Larsson Syndrome

Kil Joon KJ Lee¹, Jong Bock JB Kim¹, Dong Hwan DH Lee¹, Sang Man SM Shin¹, Sang Jhoo SJ Lee¹

¹Department of Pediatrics, SoonChungHang University, College of Medicine, Seoul, Korea

Abstract

Sjören-Larsson Syndrome is a rare disorder chracterized by congenital icthyosis, spastic diplegia or tetraplegia and mental retardation. The inheritance is autosomal recessive, due to deficiency of alcohol dehydrogenase activity of fatty acid matabolism. We have experienced a case of Sjören-Larsson Syndrome in a 16 month-old male children who have dried thick skin, developmental delay, and spastic diplegia. He was much improved clinically for skin lesion and developental status with etretinate supplement. We report the case with brief review of related literatures.

Keywords :Sjören-Larsson Syndrome