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Rett Syndrome in Two Iranian Girls
Rett syndrome is a disorder of early brain development characterized by developmental regression and deceleration of brain growth after a period of relatively normal developmental course. It occurs predominantly in girls. Nearly all cases of Rett syndrome caused by mutation in the methyl CPG binding protein 2 or MECP2 gene. It is characterized by developmental regression of language and motor milestones and acquired microcephaly after 7-8 months. Hallmark of Rett syndrome is repetitive hand wringingmovement and loss of purposeful and spontaneous use of hands. These finding may not appear until 2-3 year of age. Here we report two case with this syndrome from two family that confirmed by molecular analysis.
MECP2 Gene, Rett Syndrome, Developmental Regression, Hand Wringing.
- Andrews Davis. (2010) handbook of pediatric neuropsychology p503-508.
- kliegman Stantun, St Geme, Schor and Nelson. (2016) Textbook of pediatrics 20th ed vol 2 p.503-508.
- Harvey S, Singer Janattan and W Mink, Donald LGilbert and Joseph Jankovik. (2016) Movemen Disorders in childhood 2nd ed, p.120.
- Maria Chahrourr, Sung Yun Jung and Chad Show et al. (2008) MECP2, a key contributor to Neurological disease activates and represses transcription. Science 30 may vol 320. Issue 5880 p 1224-1229.
- Rett A. (1996) On a unusual brain atrophy syndrome in hyperammonemia in childhood (in German) 116(37),723-6.
- Amir Ruthie, Vanden Vayer and Ignathia et al. (1999) Rett syndrome is caused by mutation in X-linked MECP2 encoding methyl-CPG binding protein2. Nature Genetics 23(2),185-8.
- Smeets E and Pelck Don B. (2012) Rett syndrome. Mol syndromol 2(3),113-127.
- Singer HS and Naidu S. (2001) We’ll keep the genes on for you. Neurology 56(5), 582-584.
- Elsevier M Chahrour and HY Zoghi. (2007) Neuron, 7(5), 870-9.
- Bengt Hagborg. (2002) Clinical manifestation and stages of Rett syndrome. Research Review . 8:61-65.
- Trevatten E and Naidu S. (1998). The clinical recognition and differential diagnosis of Rett Syndrome. J Child Neurol [pubmed].
- Tropea D, Giacomett,E et al. (2009) Partial reversal of Rett syndrome like symptoms in MECP2 mutant mice. Proceeding of National Academy of Science 106(6), 2029-34.
- BlueME, Naidu and Johnston MV.(1999).Development of amino acid receptors in frontal Cortex from girls with Rett syndrome. Annals of neurology. 45(4),541-5.
- www.ncbi.nlm.nih.gov/books/NBK 1497
- http://emedicine.medscape.com/article/91637-7 overview
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