Rett Syndrome
Journal Title: Online Journal of Neurology and Brain Disorders - Year 2018, Vol 1, Issue 4
Abstract
Rett sindrome is a severe neuro developmental disorder that is a leading cause of mental retardation in females, characterized by an apparently normal psycho motor development through the first 6 months of life, followed by stagnation and growth regression in different are as like motor, language and social skills; patients often exhibitautistic behaviors in the early stages. Other symptoms include seizures, breathing problems when awake such as hyper ventilation, apnea, and swallowing air; ataxia and stereotypich and movements. It is caused by mutations in the X-linked gene encodingmethyl-CpG-binding protein 2 (MECP2) [1,2]. One case is presented with positive molecular study. Rett sÃndrome was first described in 1966 by the austrian neurologist Andreas Rett. It usually affects women and is the second cause of profound mental retardation. Its cause has been associated with a mutation located on the X chromosome in Xq28 in the MECP2 gene that codes for the proteinmethyl-CpG-binding protein [3,4]. Female 2 years old without significant family or perinatal history. At 6 months old, she presented neurodevelopment regression, not achieving a sitting position and losing the cephalic support with epileptic spasms in flexion, 10 times a day, with 7clusters, in wakefulness. At the current physical examination with head circumference 16 in, with little visual contact, there are stereotypies in the hands, spasticity, screaming battacks, no language, there is only babbling, with episodes of hyperventilation and sleep disturbance. MRI of the skull with ventriculomegaly. Electro encephalogram hypsar rhythmia with burst supression. Molecular study positive for MECP2 in exon 4c.1233C>T. Current treatment with vigabatr in and magnesium valproate [5].
Authors and Affiliations
Rodriguez Rivera Sofia Lucila
Keywords
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- EP ID EP594642
- DOI 10.32474/OJNBD.2018.01.000116
- Views 78
- Downloads 0
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