Abstract:
BACKGROUND:Rett syndrome (RTT) is a severe neurodevelopmental disorder mainly affecting females. One of the main clinical manifestations is hand stereotypies, which is presumed to based on dysfunction rather than on structural impairment. Reflex interictal discharge precipitated by tapping-lips in electroencephalogram (EEG) is a rare phenomenon among RTT. CASE PRESENTATION:We firstly reported a case of RTT concerning interictal reflex discharge precipitated by tapping- lips. The child, female, 5 years old, presented with a significant regression in motor development and language skills. She almost always tapped the lips with the right hand and stopped only when was interrupted. Her EEG results displayed extensive low amplitude fast wave could be elicited by lightly and slowly- rhythm tapping lips and multifocal bilateral discharges could be precipitated by relatively stronger and quicker rhythm action. It was when the movement stopped that corresponding discharges immediately disappeared. Besides, the reflex discharges were not precipitated by tapping- lips using observer's hand at the certain tempo and intensity. The hand stereotypies did not respond to antiepileptic drugs. CONCLUSIONS:Tapping- lips may be a somatosensory stimulation to precipitate interictal discharges in RTT, which may provide another idea to enrich the insight on hand stereotypies of RTT.
journal_name
BMC Neuroljournal_title
BMC neurologyauthors
Luo X,Li C,Wang X,Yu X,Jiang Jdoi
10.1186/s12883-019-1296-4subject
Has Abstractpub_date
2019-05-01 00:00:00pages
77issue
1issn
1471-2377pii
10.1186/s12883-019-1296-4journal_volume
19pub_type
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