Sjogren-Larsson syndrome: Early diagnosis, dietary management and biochemical studies in two cases

Background: Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive di sorder with worldwide distribution. It consists of ichthyosis, spastic dipl egia and mental retardation caused by an enzymatic defect in fatty alcohol oxidation. Objective: To study the effects of dietary management on clinica l outcome and plasma/red blood cell fatty alcohol and plasmalogen concentra tions. Methods: To reduce fatty alcohol production, we reduced total fat in take to 30% of total intake of calories. To correct delta 6 desaturase defi ciency, we supplemented the diet with both n-3 and n-6 fatty acids to obtai n a linoleic/linolenic acid ratio of 6 with low erucic acid rapeseed oil, p lus high unsaturated fatty acids. We used gas liquid chromatography to assa y blood cell membranes and plasma fatty alcohols/plasmalogens. Results: Two SLS infants with proven fatty alcohol/NAD+ oxidoreductase deficiency were studied. Good clinical results were obtained in one of the patients when di etary intervention was started in early infancy and correlated well with pl asma fatty alcohol decrease. However, no clinical improvement was seen in t he other patient who started later with low compliance. Acitretin therapy w as necessary to control skin symptoms in this second patient. Conclusion: D ietary intervention using the combined approach described here may improve fatty alcohol metabolism in SLS, However, only very early intervention seem s clinically beneficial.