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  • Updated 04.28.2024
  • Released 10.22.1996
  • Expires For CME 04.28.2027

Sjögren-Larsson syndrome



Sjögren-Larsson syndrome is an inherited neurocutaneous disorder characterized by ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Patients have deficient activity of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene, which results in altered lipid composition of their tissues. In this article, the author discusses new information about the biochemical pathogenesis of Sjögren-Larsson syndrome.

Key points

• Consider the diagnosis of Sjögren-Larsson syndrome in any patient with intellectual disability, spasticity, and dry skin or ichthyosis.

• Brain MRI typically shows white matter disease, and MRS reveals abnormal lipid peaks. Ophthalmologic exam often reveals a distinctive crystalline maculopathy.

• Diagnostic testing demonstrates deficiency of fatty aldehyde dehydrogenase activity in cultured skin fibroblasts or mutations in the ALDH3A2 gene.

• People with Sjögren-Larsson syndrome typically survive well into adulthood.

Historical note and terminology

Sjögren and Larsson first described the genetic syndrome that bears their names in a cohort of 28 Swedish patients (41). Theile (48) reviewed subsequent cases of Sjögren-Larsson syndrome that added considerably to the clinical description of patients and highlighted the worldwide distribution of this disease. In a series of papers published in the 1980s, Jagell and colleagues provided extensive descriptions of the phenotype in the Swedish patients, including estimates of the prevalence of the disease in Sweden. Sjögren-Larsson syndrome was transformed from a purely clinical disorder to an inborn error of metabolism by the finding that patients have impaired fatty alcohol oxidation due to deficient activity of fatty alcohol:NAD+ oxidoreductase (35). Subsequent investigations demonstrated that the primary enzymatic defect in Sjögren-Larsson syndrome is deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase (31). Enzymatic studies have permitted the identification of genetic carriers for Sjögren-Larsson syndrome (24) and prenatal diagnosis (33). The gene for fatty aldehyde (ALDH3A2) dehydrogenase has been cloned, and patients with Sjögren-Larsson syndrome were found to carry mutations of various types (07).

Genetic testing has become the most common method for confirming the diagnosis of Sjögren-Larsson syndrome.

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