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.


METHODS
To reduce fatty alcohol production, we reduced total fat intake to 30% of total intake of calories. To correct d 6 desaturase deficiency, we supplemented the diet with both n-3 and n-6 fatty acids to obtain a linoleic/linolenic acid ratio of 6 with low erucic acid rapeseed oil, plus high unsaturated fatty acids. We used gas liquid chromatography to assay 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 dietary intervention was started in early infancy and correlated well with plasma fatty alcohol decrease. However, no clinical improvement was seen in the other patient who started later with low compliance. Acitretin therapy was necessary to control skin symptoms in this second patient.


CONCLUSIONS
Dietary intervention using the combined approach described here may improve fatty alcohol metabolism in SLS. However, only very early intervention seems clinically beneficial.
Taube
B
B
Unités de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU Pellegrin, Bordeaux, France.
Billeaud
C
C
Labrèze
C
C
Entressangles
B
B
Fontan
D
D
Taïeb
A
A
D000429:Alcohol Oxidoreductases / Q000378:metabolism; D000445:Aldehyde Oxidoreductases / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000378:metabolism; D005233:Fatty Alcohols / Q000097:blood; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010955:Plasmalogens / Q000097:blood; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000178:diet therapy*
D005233:Fatty Alcohols; D010955:Plasmalogens; D000429:Alcohol Oxidoreductases; C065402:long-chain-alcohol dehydrogenase; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase