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

Abstract:

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. CASE PRESENTATION: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.

journal_name

BMC Neurol

journal_title

BMC neurology

authors

Lv Y,Liu C,Shi M,Cui L

doi

10.1186/s12883-016-0613-4

subject

Has Abstract

pub_date

2016-06-13 00:00:00

pages

91

issn

1471-2377

pii

10.1186/s12883-016-0613-4

journal_volume

16

pub_type

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