Suna SARIKAYA, Sibel TAMER, Tahir Kurtuluş YOLDAŞ

Nadir Görülen Bir Nörokutanöz Sendrom: Sj ögren-Larsson Sendromu, Olgu Sunumu

Sjögren-Larsson sendromu (SLS), nadir görülen bir nörokutanöz hastalıktır ve spastik dipleji, konjenital lameller ik- tiyozis, mental retardasyon ile karakterizedir. Yürüme güçlüğü ile başvuran 25 yaşındaki erkek hastada spastik dip- leji ve iktiyozis bulguları saptandı. Kraniyal MRI ve MR Spektroskopi bulguları ile Sjögren Larsson sendromu ta- nısı konuldu. Bu makalede, Sjögren-Larsson sendromu tanısı konulan bir olgu, nadir görülmesi nedeniyle sunuldu.

A Rare Neurocutaneous Syndrome: A Case of Sjögren-Larsson Syndrome

Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by congenital ichthyosis, spasticdiplegia or quadriplegia and mental retardation. 25 year old male patient was presented with difficulty of walkingand ichthyosis and spastic diplegia. Based on clinical and neuro-imaging findings diagnosis of Sjögren-Larsson syn- drome was made. In this article we presented a case of Sjögren Larsson syndrome, was due to rarity.

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1. Miche`l A. A. P. Willemsen, Marinette van der Graaf, Marjo S. van der Knaap, et al. MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy.AJNR. 2004;25:649–657.
2. Ganemo A, Jagell S, Vahlquist A. Sjogren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34Swedish patients. Acta Derm Venereol. 2009;89:68–73.
3. Van Domburg PH, Willemsen MA, Rotteveel JJ, et al. SjögrenLarsson syndrome: clinical and MRI/MRS findings in FALDHdeficient patients. Neurology 1999; 52:1345.
4. Jagell S, Heijbel J. Sjögren-Larsson syndrome: physical and neurological features. Helv Paediatr Acta 1982;37:519–530.
5. Rizzo WB, Carney G, Lin Z. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet. 1999; 65:1547.
6. Jagell S, Gustavson KH, Holmgren G. Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. Clin Genet. 1981; 19:233.
7. Gordon N. Sjögren-Larsson syndrome. Dev Med Child Neurol. 2007; 49:152.
8. Rizzo WB. Sjögren-Larsson syndrome: explaining the skin-brain connection. Neurology. 1999; 52:1307.
9. Rizzo WB, Craft DA. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts. J Clin Invest. 1991; 88:1643.
10. Jagell S, Gustavson KH, Holmgren G. Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. Clin Genet. 1981; 19:233.