Sjögren-Larsson syndrome in two brothers: A case report

Abstract

Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases. © 2009 Moghaddam et al; licensee Cases Network Ltd.