Abstract
BackgroundRett syndrome is a severe neurodevelopmental disorder that primarily affects females. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. However, Rett syndrome hasn’t been recognized by clinical doctors at the early stage. So we need to find some special characters.Case presentationWe reported a Chinese case of Rett syndrome, exhibiting continuous centrotemporal spikes in EEG with paroxysmal suppression by hand stereotypies (hand clapping). The child, female, 4 years old, presented with a significant regression in her spoken language skills, hand stereotypies (hand clapping and hand wringing), a wider based gait with difficulties in balance, repeated abnormal behaviors (bruxism and head banging). With her clinical-history, Rett syndrome was suspected and genetic testing with mutation in MECP2 confirmed the diagnosis. Her EEG showed slow acticity in background and revealed a specific feature that continuous centrotemporal spikes can be suppressed by the repeated hand clapping. And when the hand stopped, the spikes reoccured again.ConclusionsThis unique EEG signature has rarely been reported, which will expand the spectrum of EEG abnormalities in Rett syndrome.
Highlights
Rett syndrome is a severe neurodevelopmental disorder that primarily affects females
This unique EEG signature has rarely been reported, which will expand the spectrum of EEG abnormalities in Rett syndrome
We reported one Chinese child diagnosed of Rett syndrome, with a specific electroencephalogram (EEG) feature that continuous centrotemporal spikes can be suppressed by the repeated hand clapping
Summary
Rett syndrome is classically characterized by early normal development for at least the first 6 months of life, followed by a period of regression and later recovery or Stagnation [1]. Case presentaion A 4-year old female patient, presented with significant regression in her spoken language skills, hand stereotypies (hand clapping and hand wringing), a wider based gait with difficulties in balance, repeated abnormal behaviors (bruxism and head banging) for 2 years. At 24 months, a significant regression was noted in her spoken language skills, few words can be heard, and few communication with her parents She was noted to develop hand stereotypies of hand clapping, hand wringing and have some difficulties in ordinary life, such as spoon-using, clothes-dressing. In the steps, EEG, magnetic resonance image (MRI) and genetic testing were given to confirm the diagnosis Futhermore, the genetic testing with mutation in MECP2 confirmed the diagnosis
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