Sjogren Larsson Syndrome in three siblings of an Indian family

Abstract

Sjogren Larsson Syndrome (SLS) is an uncommon autosomal recessive disorder characterized by intellectual disability, congenital icthyosis and spastic diplegia. Here we report three siblings with SLS  from an Indian family with no history of consanguinity. One sibling had unusual features of spasticity and tremors in upper limbs. 

Keywords

• Sjogren-Larsson syndrome, icthyosis, quadriplegia, tremors

Kaynakça

1. 1- Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders.Acta Psychiatr Scand. 1957; 32: 1–108.
2. 2- Rizzo WB. Sjogren-Larsson syndrome: Molecular pathogenesis
3. dehydrogenase deficiency. Mol Genet Metab. 2007;90:1–9 and fatty of
4. aldehyde 3- Jagell S, Heijbel J. Sjögren-Larsson syndrome: features.
5. Helv.Paediatr.Acta. 1982;37:519–530 of A 35
6. patients. 4- Dhanuka AK, Gupta M. Sjogren - Larsson Syndrome: a case report. Neurology India .2002;50:3:371-2.
7. 5- Singh AR. Genetics of Sjögren Larsson Syndrome and a Case Report from India. Int J Hum Genet 2002; 2(4): 223-232.
8. 6- Willemsen MA, Ijlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren- 2001;124:1426–37. syndrome.

9. Brain. 7- Rizzo WB, Heinz E, Simon M, Craft DA. Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren-Larsson syndrome. Biochim Biophys Acta. 2000;1535:1–9
10. 8- Willemsen MA, de Jong JG, van Domburg PH, Rotteveel JJ, Wanders RJA, Mayatepek E. Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome. J Pediatr. 2000;136:258-260.
11. 9- Jagell S, Polland W, Sandgren O. Specific changes in the fundus typical for the Sjögren- Larsson syndrome. An ophthalmological study of
12. Ophthalmol.(Copenh) 1980;58:321–330.
13. 10- Willemsen MA, Cruysberg JR, Rotteveel JJ, Aandekerk AL, van Domburg PH, Deutman AF. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase
14. syndrome. Am.J.Ophthalmol. 2000;130:782– 789.
15. Sjögren-Larsson 11- Dutra LA, de Acquino CC, Barsottini OG. Sjogren-Larsson syndrome: Case report and review of neurologic abnormalities and icthyosis. Neurologist. 2009;15:332–4
16. 12- Miyanomae Y, Ochi M, Yoshioka H, Takaya K, Kizaki Z, Inoue F et al. Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: case report. Neuroradiology. 1995;37:225– 228.
17. 13- Willemsen MA, Van Der GM, van der Knaap MS, Heerschap A, van Domburg PH, Gabreels FJ et al. MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome:
18. leukoencephalopathy. 2004;25:649–657. of
19. Am.J.Neuroradiol. 14- Zalewska A, Schwartz RA. Dermatologic Manifestations of Sjogren-Larsson Syndrome Medication
20. emedicine.medscape.com/article/1114823
21. medication visited on 20/6/14 http://