Sjogren Larsson Syndrome in three siblings of an Indian family

Akanksha GUPTA [1] , Gunjan MİSHRA [2] , Anubha JAİN [3] , Chandra KANTA [4]


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. 

Sjogren-Larsson syndrome, icthyosis, quadriplegia, tremors
  • 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://
Birincil Dil en
Bölüm Case Reports
Yazarlar

Yazar: Akanksha GUPTA

Yazar: Gunjan MİSHRA

Yazar: Anubha JAİN

Yazar: Chandra KANTA

Tarihler

Yayımlanma Tarihi : 7 Ocak 2015

Bibtex @ { jps202432, journal = {Journal of Pediatric Sciences}, issn = {}, eissn = {1309-1247}, address = {}, publisher = {Bilal YILDIZ}, year = {2015}, volume = {7}, pages = { - }, doi = {10.17334/jps.15884}, title = {Sjogren Larsson Syndrome in three siblings of an Indian family}, key = {cite}, author = {Gupta, Akanksha and Mishra, Gunjan and Jain, Anubha and Kanta, Chandra} }
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 (0) , . Retrieved from https://dergipark.org.tr/tr/pub/jps/issue/19091/202432
MLA Gupta, A , Mishra, G , Jain, A , Kanta, C . "Sjogren Larsson Syndrome in three siblings of an Indian family" . Journal of Pediatric Sciences 7 (2015 ): <https://dergipark.org.tr/tr/pub/jps/issue/19091/202432>
Chicago Gupta, A , Mishra, G , Jain, A , Kanta, C . "Sjogren Larsson Syndrome in three siblings of an Indian family". Journal of Pediatric Sciences 7 (2015 ):
RIS TY - JOUR T1 - Sjogren Larsson Syndrome in three siblings of an Indian family AU - Akanksha Gupta , Gunjan Mishra , Anubha Jain , Chandra Kanta Y1 - 2015 PY - 2015 N1 - DO - T2 - Journal of Pediatric Sciences JF - Journal JO - JOR SP - EP - VL - 7 IS - 0 SN - -1309-1247 M3 - UR - Y2 - 2021 ER -
EndNote %0 Journal of Pediatric Sciences Sjogren Larsson Syndrome in three siblings of an Indian family %A Akanksha Gupta , Gunjan Mishra , Anubha Jain , Chandra Kanta %T Sjogren Larsson Syndrome in three siblings of an Indian family %D 2015 %J Journal of Pediatric Sciences %P -1309-1247 %V 7 %N 0 %R %U
ISNAD Gupta, Akanksha , Mishra, Gunjan , Jain, Anubha , Kanta, Chandra . "Sjogren Larsson Syndrome in three siblings of an Indian family". Journal of Pediatric Sciences 7 / 0 (Ocak 2015): - .
AMA Gupta A , Mishra G , Jain A , Kanta C . Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences. 2015; 7(0): -.
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(0): -.
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, sayı. 0, Oca. 2015, doi:10.17334/jps.15884