Sjögren-Larsson syndrome: Report of monozygote twins and a case with a novel mutation

Turkish Journal of Pediatrics

Volumn 54, Issue 1, 2012, Pages 64-66

  Yiş, Uluç ^a   Terrinoni, Allesandro ^b  

^a Gaziantep Children Hospital   (Turkey)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

ALDH3A2 gene; Ichthyosis; Sj gren Larsson syndrome

Indexed keywords

ALDEHYDE DEHYDROGENASE; ARGININE; HISTIDINE;

ALDH3A2 GENE; ANTICONVULSANT THERAPY; ARTICLE; BRAIN DAMAGE; CASE REPORT; CHILD; CODON; DNA STRUCTURE; DRY SKIN; EXON; FACIAL NERVE PARALYSIS; FALDH GENE; FEMALE; GAIT; GENE; GENE MUTATION; GENETIC ANALYSIS; GESTATIONAL AGE; GRAND MAL SEIZURE; GROWTH RETARDATION; HOMOZYGOTE; HUMAN; ICHTHYOSIS; LEUKOMALACIA; MOLECULAR DIAGNOSIS; MONOZYGOTIC TWINS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PHAKOMATOSIS; PREMATURITY; PRESCHOOL CHILD; QUADRIPLEGIA; SJOEGREN LARSSON SYNDROME; SPASTICITY; TENDON REFLEX; WHITE MATTER;

ALDEHYDE OXIDOREDUCTASES; CHILD; CHILD, PRESCHOOL; CODON; FEMALE; HUMANS; MALE; MUTATION; SJOGREN-LARSSON SYNDROME; TURKEY; TWINS, MONOZYGOTIC;

EID: 84858802192     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study. Acta Psychiatr Neurol Scand Suppl 1957; 113: 1-113.
2. Gordon N. Sjögren-Larsson syndrome. Dev Med Child Neurol 2007; 49: 152-154.
3. Rizzo WB, Carney G. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat 2005; 26: 1-10.
4. Rizzo WB. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab 2007; 90: 1-9.
5. Willemsen MA, de Jong JG, von Domburg PH, Rotteveel JJ, Wanders RJ, Mayatapek E. Sjögren-Larsson syndrome. J Pediatr 2000; 136: 261.
6. Willemsen MA, van der Graaf M, van der Knaap MS, et al. MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR AM J Neuroradiol 2004; 25: 649-657.
7. Mano T, Ono J, Kaminaga T, et al. Proton MR spectroscopy of Sjögren-Larsson syndrome. AJNR Am J Neuroradiol 1999; 20: 1671-1673.
8. Çaǧlayan AO, Gümüş H. A very rare neurocutaneous disorder in two siblings: Sjögren-Larsson syndrome. J Child Neurol 2010; 25: 1003-1005.
9. Pirgon O, Aydi{dotless}n K, Atabek ME. Proton magnetic resonance spectroscopy findings and clinical effects of montelukast sodium in a case with Sjögren-Larsson syndrome. J Child Neurol 2006; 21: 1092-1095.