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Sjogren Larsson Syndrome in three siblings of an Indian family

Yıl 2015, Cilt: 7 , - , 07.01.2015

Öz

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. 

Kaynakça

  • 1- Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders.Acta Psychiatr Scand. 1957; 32: 1–108.
  • 2- Rizzo WB. Sjogren-Larsson syndrome: Molecular pathogenesis
  • dehydrogenase deficiency. Mol Genet Metab. 2007;90:1–9 and fatty of
  • aldehyde 3- Jagell S, Heijbel J. Sjögren-Larsson syndrome: features.
  • Helv.Paediatr.Acta. 1982;37:519–530 of A 35
  • patients. 4- Dhanuka AK, Gupta M. Sjogren - Larsson Syndrome: a case report. Neurology India .2002;50:3:371-2.
  • 5- Singh AR. Genetics of Sjögren Larsson Syndrome and a Case Report from India. Int J Hum Genet 2002; 2(4): 223-232.
  • 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.
  • 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
  • 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.
  • 9- Jagell S, Polland W, Sandgren O. Specific changes in the fundus typical for the Sjögren- Larsson syndrome. An ophthalmological study of
  • Ophthalmol.(Copenh) 1980;58:321–330.
  • 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
  • syndrome. Am.J.Ophthalmol. 2000;130:782– 789.
  • 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
  • 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.
  • 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:
  • leukoencephalopathy. 2004;25:649–657. of
  • Am.J.Neuroradiol. 14- Zalewska A, Schwartz RA. Dermatologic Manifestations of Sjogren-Larsson Syndrome Medication
  • emedicine.medscape.com/article/1114823
  • medication visited on 20/6/14 http://
Yıl 2015, Cilt: 7 , - , 07.01.2015

Öz

Kaynakça

  • 1- Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders.Acta Psychiatr Scand. 1957; 32: 1–108.
  • 2- Rizzo WB. Sjogren-Larsson syndrome: Molecular pathogenesis
  • dehydrogenase deficiency. Mol Genet Metab. 2007;90:1–9 and fatty of
  • aldehyde 3- Jagell S, Heijbel J. Sjögren-Larsson syndrome: features.
  • Helv.Paediatr.Acta. 1982;37:519–530 of A 35
  • patients. 4- Dhanuka AK, Gupta M. Sjogren - Larsson Syndrome: a case report. Neurology India .2002;50:3:371-2.
  • 5- Singh AR. Genetics of Sjögren Larsson Syndrome and a Case Report from India. Int J Hum Genet 2002; 2(4): 223-232.
  • 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.
  • 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
  • 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.
  • 9- Jagell S, Polland W, Sandgren O. Specific changes in the fundus typical for the Sjögren- Larsson syndrome. An ophthalmological study of
  • Ophthalmol.(Copenh) 1980;58:321–330.
  • 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
  • syndrome. Am.J.Ophthalmol. 2000;130:782– 789.
  • 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
  • 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.
  • 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:
  • leukoencephalopathy. 2004;25:649–657. of
  • Am.J.Neuroradiol. 14- Zalewska A, Schwartz RA. Dermatologic Manifestations of Sjogren-Larsson Syndrome Medication
  • emedicine.medscape.com/article/1114823
  • medication visited on 20/6/14 http://
Toplam 21 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Reports
Yazarlar

Akanksha Gupta

Gunjan Mishra Bu kişi benim

Anubha Jain Bu kişi benim

Chandra Kanta

Yayımlanma Tarihi 7 Ocak 2015
Yayımlandığı Sayı Yıl 2015 Cilt: 7

Kaynak Göster

APA Gupta, A., Mishra, G., Jain, A., Kanta, C. (2015). Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences, 7. https://doi.org/10.17334/jps.15884
AMA Gupta A, Mishra G, Jain A, Kanta C. Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences. Ocak 2015;7. doi:10.17334/jps.15884
Chicago Gupta, Akanksha, Gunjan Mishra, Anubha Jain, ve Chandra Kanta. “Sjogren Larsson Syndrome in Three Siblings of an Indian Family”. Journal of Pediatric Sciences 7, Ocak (Ocak 2015). https://doi.org/10.17334/jps.15884.
EndNote Gupta A, Mishra G, Jain A, Kanta C (01 Ocak 2015) Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences 7
IEEE A. Gupta, G. Mishra, A. Jain, ve C. Kanta, “Sjogren Larsson Syndrome in three siblings of an Indian family”, Journal of Pediatric Sciences, c. 7, 2015, doi: 10.17334/jps.15884.
ISNAD Gupta, Akanksha vd. “Sjogren Larsson Syndrome in Three Siblings of an Indian Family”. Journal of Pediatric Sciences 7 (Ocak 2015). https://doi.org/10.17334/jps.15884.
JAMA Gupta A, Mishra G, Jain A, Kanta C. Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences. 2015;7. doi:10.17334/jps.15884.
MLA Gupta, Akanksha vd. “Sjogren Larsson Syndrome in Three Siblings of an Indian Family”. Journal of Pediatric Sciences, c. 7, 2015, doi:10.17334/jps.15884.
Vancouver Gupta A, Mishra G, Jain A, Kanta C. Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences. 2015;7.