Document Detail

Neonatal hyperekplexia: the Stiff-Baby syndrome.
MedLine Citation:
PMID:  16820664     Owner:  NLM     Status:  MEDLINE    
Neonatal hyperekplexia is a rare autosomal dominant startle disorder. Presenting soon after birth, it is often mistakenly diagnosed as spastic quadriparesis, epilepsy etc. While the long-term prognosis is relatively benign, sudden death due to severe spasms have been seen in sporadic cases. We report a case of hyperekplexia with some typical and some unusual findings.
S D Sharma; Anurag Sarna; Sagori Mukhopadhyay
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian pediatrics     Volume:  43     ISSN:  0019-6061     ISO Abbreviation:  Indian Pediatr     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-07-05     Completed Date:  2006-09-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985062R     Medline TA:  Indian Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  539-41     Citation Subset:  IM    
Jhanwar Pediatric Gastroenterology Center (JPGEC), Department of Pediatrics, SPMCHI, SMS Medical College, Jaipur, India.
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MeSH Terms
Muscle Hypertonia / diagnosis,  physiopathology
Reflex, Abnormal*
Startle Reaction / physiology
Stiff-Person Syndrome / diagnosis*,  physiopathology

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