The Indian Journal of Pediatrics

, Volume 69, Issue 2, pp 193–194 | Cite as

Sjogren-Larsson syndrome

  • Meena Sood
  • Amita Trehan
  • J. Dinakaran
  • R K Marwaha
Clinical Brief


Sjogren-Larsson Syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. This has rarely been described in people of Indian origin, case reports mainly being restricted to Caucasians. We have described’a 6-year-old girl with classical features of this syndrome, the symptoms having started in infancy. The spasticity is mainly diplegic in nature. Skin changes of ichthyosis are generalized and more in the flexural areas. Mental retardation is severe. Management is supportive.

Key words

Ichthyosis Spasticity Mental deficiency 


  1. 1.
    Sjogren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders. A clinical and generic study.Acta Psychiatr Neurol Scand 1957; 32 (suppl): 1–113.Google Scholar
  2. 2.
    Kirubakaran A, Balachandar J, Chandrasekar S. Sjogren-Larsson syndrome.J Indian Med Assoc 1982; 79: 11–12.PubMedGoogle Scholar
  3. 3.
    Shrivastava U, Ramji S, Mohan M. Sjogren-Larsson syndrome.Indian Pediatr 1986; 23: 744–45.PubMedGoogle Scholar
  4. 4.
    Thakur BK, Smith EH. The Sjogren-Larsson syndrome in a north Indian sibship.Indian J Pediatr 1991; 58: 139–141.PubMedCrossRefGoogle Scholar
  5. 5.
    Pardo-Castello V, Faz H, Ichthyosis — Little’s disease.Arch Derm Syph (chic) 1932; 26: 915–916.Google Scholar
  6. 6.
    Pisani D, Cacchione A, Dermatosi FE. Frenastenia edermatosi.Riv Sper Frehiat 1934; 58: 722–738.Google Scholar
  7. 7.
    Baar HS, Frogyesi T, Mauthner HV. The Sjogren-Larsson Syndrome.J Maine Med Assoc 1960; 51: 189–197.PubMedGoogle Scholar
  8. 8.
    Rizzo WB, Craft DA. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol: NAD + oxidoreductase in cultured fibroblasts.J Clin Invest 1991; 88 : 1643–1648.PubMedCrossRefGoogle Scholar
  9. 9.
    Rizzo WB, Craft DA, Kelson TLet al. Prenatal diagnosis of Sjogren-Larsson syndrome using enzymatic methods.Prenatal Diag 1994; 14: 577–581.PubMedCrossRefGoogle Scholar
  10. 10.
    Sillen A, Holmgren G, Wadelius C. First prenatal diagnosis by mutation analysis in a family with Sjogren-Larsson syndrome.Prenatal Diag 1997; 17: 1147–1149.PubMedCrossRefGoogle Scholar
  11. 11.
    Sylvester PE. Pathological findings in Sjogren-Larsson syndrome.J Ment Defic Res 1969; 13: 267–275.PubMedGoogle Scholar
  12. 12.
    Mulder LJMM, Oranje AP, Looneen MCB. Cranial CT in the Sjogren-Larsson syndrome.Neuroradiology 1987; 29: 560–561.PubMedCrossRefGoogle Scholar
  13. 13.
    Gomari JM, Leibovici V, Zlotogorski A. Computed tomography in Sjogren-Larsson Syndrome.Neuroradiology 1987; 29: 557–559.CrossRefGoogle Scholar
  14. 14.
    Fiverson DP, Lucky AW, Lannocon S. Sjogren Larsson syndrome associated with Dandy Walker malformation: report of a case.Pediatr Dermotol 1989; 6 : 312–315.Google Scholar
  15. 15.
    Richards BW, Rundle A, Wilding ASJ. Congenital ichthyosis, spastic diplegia and mental deficiency.J Ment Defic Res 1957; 1: 118–129.PubMedGoogle Scholar
  16. 16.
    Jagell S, Liden S. Treatment of the ichthyosis of the Sjogren-Larsson syndrome with etretinate (Tigason).Acta Dermatovener 1983; 63: 89–91.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2002

Authors and Affiliations

  • Meena Sood
    • 1
  • Amita Trehan
    • 1
  • J. Dinakaran
    • 1
  • R K Marwaha
    • 1
  1. 1.Department of Pediatrics, Advanced Pediatric CentrePost-Graduate Institute of Medical Education and ResearchChandigarhIndia

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