Document Detail

Male Rett syndrome variant: application of diagnostic criteria.
MedLine Citation:
PMID:  10207936     Owner:  NLM     Status:  MEDLINE    
Classic Rett syndrome (RS) has been described in females only. Although an X chromosome origin is probable, it has not been substantiated. It is possible, therefore, that RS could occur in males. The authors describe a male with RS and review all the reported cases involving male patients. The authors compare their patient to the other patients and examine the applicability of the classic RS diagnostic criteria to this variant. To date, nine male patients with RS have been reported. The authors describe an additional male who met seven of nine necessary criteria and six of eight supportive criteria as defined by the RS Diagnostic Criteria Work Group. When the authors applied these criteria to the other nine reported patients, many necessary inclusion criteria were not met despite the absence of exclusion criteria. The supportive criteria were even more variable and limited in many patients. In conclusion, males with RS appear to represent a heterogeneous phenotype, with clinical features that may meet many but not all of the necessary diagnostic criteria of classic RS. Less restrictive criteria are needed to include this variant, which should be considered when evaluating males with idiopathic developmental regression, autistic features, and loss of hand function.
M M Jan; J M Dooley; K E Gordon
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Pediatric neurology     Volume:  20     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1999 Mar 
Date Detail:
Created Date:  1999-06-07     Completed Date:  1999-06-07     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  238-40     Citation Subset:  IM    
Department of Pediatrics (Neurology), King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
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MeSH Terms
Autistic Disorder / diagnosis
Disease Progression
Mental Retardation / diagnosis
Rett Syndrome / classification,  diagnosis*

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