Document Detail


Paroxysmal Periodic Dystonic Postures in an Infant with 18q23 Deletion Syndrome.
MedLine Citation:
PMID:  23117893     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
The 18q23 deletion syndrome is characterized by diverse neurological and psychiatric features, including developmental delays, epilepsy, and autism. We report on a female infant with an 18q23 deletion who displayed atypical periodic dystonic postures. Video-electroencephalography recordings were used to evaluate the involuntary nonepileptic movements in the infant. Although nonepileptic involuntary movements have been rarely reported in adult patients, there are no reports of paroxysmal periodic dystonia in infants with 18q23 deletion. This study suggests that clustered periodic dystonia should be clinically recognized as a phenotypic feature in some patients with 18q23 deletion syndrome.
Authors:
Nobustune Ishikawa; Yoshiyuki Kobayashi; Yuji Fujii; Masao Kobayashi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-1
Journal Detail:
Title:  Neuropediatrics     Volume:  -     ISSN:  1439-1899     ISO Abbreviation:  Neuropediatrics     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Affiliation:
Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan.
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