Sjögren-Larsson syndrome: early diagnosis, dietary management and biochemical studies in two cases.

Background: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder with worldwide distribution. It consists of ichthyosis, spastic diplegia and mental retardation caused by an enzymatic defect in fatty alcohol oxidation.

Objective: To study the effects of dietary management on clinical outcome and plasma/red blood cell fatty alcohol and plasmalogen concentrations.