Advertisement

Sjögren-Larsson Syndrome

  • Marjo S. van der Knaap
  • Jacob Valk

Abstract

Sjögren-Larsson syndrome (SLS) is a rare disorder with an autosomal recessive mode of inheritance. The three cardinal clinical signs are mental retardation, congenital ichthyosis and spastic diplegia or tetraplegia. The ichthyosis is seen at birth and initial presentation may be as a collodion baby. The ichthyosis tends to worsen with time, and usually presents after infancy as a brownish verrucous, lichenified hyperkeratosis. The signs of spasticity usually become manifest at 4–30 months of age. Many of the patients are never able to walk without assistance and a considerable number are wheelchair-dependent. Those able to walk have a typical spastic gait. Tendon reflexes are high and bilateral Babinski signs are often present. Short stature and thoracolumbar kyphoscoliosis may be present. Mental deficiency varies from moderate to severe. Speech defect is usually present and can be attributed to a combination of mental deficiency and pseudobulbar palsy. Occasionally epilepsy is present. Some SLS patients have ocular abnormalities, including a pathognomonic circular pattern of glistening white dots in the macular region of the retina. Defective development of tooth enamel is a minor feature of the syndrome.

Keywords

Fatty Alcohol Mental Deficiency Cerebellar White Matter Fatty Aldehyde Myelin Loss 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Di Rocco M, Filocamo M, Tortori-Donati P, Veneselli E, Borrone C, Rizzo WB (1994) Sjögren-Larsson syndrome: nuclear magnetic resonance imging of the brain in a 4-year-old boy. J Inherited Metab Dis 17: 112–114PubMedCrossRefGoogle Scholar
  2. Gomori JM, Leibovici V, Zlotogorski A, Wirguin I, HahamZadeh S (1987) Computed tomography in Sjögren-Larsson syndrome. Neuroradiology 29: 557–559PubMedCrossRefGoogle Scholar
  3. Judge MR, Lake BD, Smith VV, Besley GTN, Harper JI (1990) Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndrome. J Invest Dermatol 95: 632–634PubMedCrossRefGoogle Scholar
  4. Kelson TL, Craft DA, Rizzo WB (1992) Carrier detection for Sjögren-Larsson syndrome. J Inherited Metab Dis 15: 105–111PubMedCrossRefGoogle Scholar
  5. Lake BD, Smith VV, Judge MR, Harper JI, Besley GTN (1991) Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses. J Inherited Metab Dis 14: 338–340PubMedCrossRefGoogle Scholar
  6. Mulder LJMM, Oranje AP, Loonen MCB (1987) Cranial CT in the Sjogren-Larsson syndrome. Neuroradiology 29: 560–561PubMedCrossRefGoogle Scholar
  7. Richards BW (1960) Sjögren-Larsson syndrome. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 13. North Holland, Amsterdam, pp 468–482Google Scholar
  8. Rizzo WB, Craft DA (1991) Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol: NAD oxidoreductase in cultured fibroblasts. J Clin Invest 88: 1643–1648Google Scholar
  9. Scalais E, Verloes A, Sacré JP, Pierard GE, Rizzo WB (1992) Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity. Pediatr Neurol 8: 459–465PubMedCrossRefGoogle Scholar
  10. Sylvester PE (1969) Pathological findings in Sjögren-Larsson syndrome. J Ment Defic Res 13: 267–275PubMedGoogle Scholar
  11. Tabsh K, Rizzo WB, Holbrook K, Theroux N (1993) SjögrenLarsson syndrome: technique and timing of prenatal diagnosis. Obstet Gynecol 82 (suppl II): 700–703PubMedGoogle Scholar
  12. Wester P, Bergström U, Brun A, Jagell S, Karlsson B, Eriksson A (1991) Monoaminergic dysfunction in Sjögren-Larsson syndrome. Mol Chem Neuropathol 15: 13–28PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

Personalised recommendations