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Magnetic Resonance Imaging and Proton Spectroscopy in Sjögren-Larsson Syndrome: Case Report

Tomás de Andrade Lourenção Freddi*; Camila Soares Moreira; Nelson Paes Fortes Diniz Ferreira

    Sjogren Larsson Syndrome (SLS), an autosomal recessive disorder of lipid metabolism, was first described in Vasterbotten County, Sweden. The worldwide prevalence is unknown, but the estimated prevalence is only 0.4 per 100,000 population. SLS patients are deficient in the Fatty Aldehyde Dehydrogenase (FALDH) component of fatty alcohol-NAD+ oxidoreductase. Consequently, fatty alcohols and fatty aldehyde accumulate, leading to altered cell integrity and an increase in biologically active lipids.


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