Document Detail

Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication.
MedLine Citation:
PMID:  3324795     Owner:  NLM     Status:  MEDLINE    
Recent progress from pooled clinical experience is reviewed. The approximate number of documented cases of Rett syndrome (RS) as of October 1986 was 1,100. Three sister pairs, 3 monozygotic twin pairs (both twin girls affected), 3 dizygotic twin pairs (one twin girl affected) are known. Genetics are discussed based on these and other known occurrences. Early seizure-onset variants have been reported in a dozen cases representing various countries. Approximately 20 incomplete RS related cases, also termed "formes frustes," are documented as of October 1986. An actual Swedish series of 66 classical RS, 4 "formes frustes," 2 early seizure-onset variants and 9 other clinically near related atypical cases is summarized. A suggested late stage IV spinal cord impairment is discussed, as well as the whole adult multifacetted complex neurological pattern. Gastrointestinal pathology is discussed with reference to possible generalized neuropeptide disturbances.
B Hagberg; I Witt-Engerström
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Brain & development     Volume:  9     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  1987  
Date Detail:
Created Date:  1988-03-21     Completed Date:  1988-03-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  451-7     Citation Subset:  IM    
Department of Pediatrics II, University of Gothenburg, Sweden.
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MeSH Terms
Brain Diseases / complications,  epidemiology,  genetics*
Child, Preschool
Diseases in Twins
Intestinal Diseases / complications,  physiopathology
Mental Retardation / complications,  epidemiology,  genetics*
Sex Factors
Spinal Cord Diseases / complications,  physiopathology

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