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Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy.
MedLine Citation:
PMID:  21470806     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
We, for the first time, report a boy with West syndrome associated with Klinefelter's syndrome. He developed episodes of repetitive tonic spasms at the age of 4months. He had developmental delays and hypsarrhythmia on interictal electroencephalography recording. His karyotype turned out to be 47, XXY, while we failed to observe anomalies in his appearance. Adrenocorticotropic hormone therapy with antiepileptic drugs resulted in cessation of tonic spasms, and his developmental quotient was improved by the age of 1year. Further studies are needed to determine the causal association between West syndrome and Klinefelter's syndrome.
Authors:
Hirofumi Inoue; Tomoko Orita; Takeshi Matsushige; Shunji Hasegawa; Takashi Ichiyama
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-4
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-4-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Affiliation:
Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Japan.
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