Case Study on Rare Disease: Sjogren-Larsson Syndrome

Dr. Vidit Chawda, Dr. Shailendra Khasavat, Dr. Khushbu Chaudhari, Dr. Jigisha Patadia

Abstract: I report a case of Sj?gren-Larsson syndrome (SLS) which is a rare autosomal recessive disorder with clinical outline (spastic diplegia, icthyosis, mental retardation). So, basically this disorder characterized by triad of congenitalichthyosis, spastic paresis, and mental retardation. It is an inherited fault of lipid metabolism triggered by absenceof fatty aldehyde dehydrogenase enzyme.

Keywords: Sjogren-Larsson syndrome, Congenital ichthyosis, mental retardation, spastic paresis