SMU Medical Journal

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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.

Keywords

MECP2 Gene, Rett Syndrome, Developmental Regression, Hand Wringing.
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