Sjogren-Larsson syndrome: clinical features

Evidence-based neurology checklist on sjogren-larsson syndrome: clinical features: Genetics This is a fatty acid metabolism disorder It is caused by mutations in the ALDH3A2 gene on chromosome 17 The transmission is autosomal recessive The mutations impair fatty aldehyde dehydrogenase (FALDH)…

Genetics

  • This is a fatty acid metabolism disorder
  • It is caused by mutations in the ALDH3A2 gene on chromosome 17
  • The transmission is autosomal recessive
  • The mutations impair fatty aldehyde dehydrogenase (FALDH) enzyme
  • This results in the accumulation of long chain fatty alcohols
  • The enzyme defect is detectable in cultured skin fibroblasts

Neurological features

Dermatological features

Skeletal features

Ocular features

Magnetic resonance imaging (MRI) brain: features

Electroencephalogram (EEG)

Treatment of ichthyosis

Potential treatments

References

  1. Willemsen MA, IJlst L, Steijlen PM, et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain 2001; 124:1426-1437.
  2. Moghaddam FR, Safar F, Asheghan M, Soltani ZR, Zade FD. Sjögren-Larsson syndrome in two brothers: a case report. Cases J 2009; 2:8434.
  3. Rizzo WB. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab 2007; 90:1-9.
  4. J SK, Waheed MD, Batool S, Holder SS, Rodriguez Reyes Y, Guntha M. Sjögren-Larsson syndrome: a rare presentation with developmental delay. Cureus 2023; 15:e35159. 
  5. Xu YC, Hou JQ, Zhu WJ, Li P. Sjogren-Larsson syndrome associated hypermelanosis. J Cosmet Dermatol 2020; 19:789-798.
  6. And 2 more. Subscribe to see the full list

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