Sjögren–Larsson syndrome

Sjögren -Larsson syndrome (SLS ) is a form of mental retardation in combination with a progressive spastic paraplegia and ichthyosis which is endemic almost exclusively in Sweden. The rare hereditary disease was first described in 1957 by Torsten Sjögren and Larsson days. In Västerbotten, a historical Swedish province, about one-third of the world's reported cases occur.

Symptoms

To the clinical picture includes a triad of symptoms: a congenital generalized psoriasis fish ( ichthyosis ), a progressive until puberty spastic paralysis of both legs ( paraspastis ) or of arms and legs ( spasticity of all limbs ) and a moderate to severe mental development is lagging behind. Virtually all patients can be found from the second year of life also characteristic sparkling inclusions ( glistening dots ) in the central retina of the eyes. This may be accompanied by pseudocyst in the central retina ( macula). The characteristic retinal changes are regarded as trend-setting ( pathognomonic ) for the disease.

Cause

Cause of the syndrome is a genetic defect of Fettaldehydhydrogenase ( FALDH ) on the short arm of chromosome 17 autosomal, which is inherited in a recessive: Both the father and the mother have the child inherit the chromosome with the corresponding thereto defect. This does not mean that parents have to suffer from the disease. Are both heterozygous, so the probability for recombination of the defective alleles, and thus the onset of the disease in children at about 25 %.

Responsible for the FALDH part of the fatty alcohol NAD oxidoreductase (FAO ) enzyme complex is impaired in its function, this leads to an increase of fatty alcohols and fatty aldehydes in blood plasma.

Therapy

A curative treatment is not possible, so there are only nursing and symptomatic measures in question.