Abstract
Rett syndrome (OMIM # 312750) is a neurodegenerative disorder with a period of developmental regression and deceleration of brain growth after a relatively normal neonatal course. It was first described in 1966
Highlights
Rett syndrome (OMIM # 312750) is a neurodegenerative disorder with a period of developmental regression and deceleration of brain growth after a relatively normal neonatal course
Case Presentation: We have presented a case of atypical Rett syndrome with three of the four main criteria
Brain magnetic resonance imaging (MRI) showed two nodular structures (< 1 cm long) in her bilateral periventricular white matter (Figure 1, arrows) and suspicious periventricular nodular heterotopia. She was diagnosed with atypical Rett syndrome
Summary
We recommend an MRI study when Rett syndrome is suspected. Abbreviations: OMIM: Online Mendelian Inheritance in Man; EEG: Electroencephalogram; WES: Whole-Exome Sequencing; MRI: Magnetic Resonance Image; ABAS-II: Adaptive Behavior Assessment System®-Second Edition; NCBI ClinVar: National Center for Biotechnology Information, clinical variability and predictability. We recommend an MRI study when Rett syndrome is suspected
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