Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report.
BACKGROUND
Rett 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.


METHODS
We 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.


CONCLUSIONS
This unique EEG signature has rarely been reported, which will expand the spectrum of EEG abnormalities in Rett syndrome.
Department of Neurology and Neuroscience center, First hospital of Jilin University, 71-XinminStreet, ChangChun, People's Republic of China.
Yudan
Y
Lv
Department of Neurology and Neuroscience center, First hospital of Jilin University, 71-XinminStreet, ChangChun, People's Republic of China.
Chang
C
Liu
Department of Neurology and Neuroscience center, First hospital of Jilin University, 71-XinminStreet, ChangChun, People's Republic of China.
Mingchao
M
Shi
Department of Neurology and Neuroscience center, First hospital of Jilin University, 71-XinminStreet, ChangChun, People's Republic of China. chuili1967@126.com.
Li
L
Cui
D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D005820:Genetic Testing; D006225:Hand / Q000502:physiology; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009048:Motor Skills / Q000502:physiology; D009154:Mutation; D015518:Rett Syndrome / Q000175:diagnosis* / Q000503:physiopathology*
D051783:Methyl-CpG-Binding Protein 2
Centrotemporal spikes; EEG; Rett syndrome; Suppression by hand stereotypies