Document Detail

A syndrome of infantile CNS degeneration.
MedLine Citation:
PMID:  7361733     Owner:  NLM     Status:  MEDLINE    
We describe six patients from five families, who have a syndrome that, to our knowledge, has not been previously reported. The syndrome is characterized by growth failure, ophthalmoplegia, optic atrophy, choreoathetosis, areflexia, hypotonia, dysmorphic facies, and severe mental and motor retardation. Some of the children also had microcephaly and seizures. The clinical course is remarkably uniform and slowly progressive. The abnormalities first noted are delayed psychomotor development and poor weight gain, and the others all develop within the first three years of life. The syndrome seems to be hereditary. Extensive laboratory investigation has not yielded an etiology. Until pathologic material is available, the disorder remains a syndrome and the diagnosis is established by the unique combination of neurological abnormalities.
G L Holmes; W J Logan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  134     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1980 Mar 
Date Detail:
Created Date:  1980-05-23     Completed Date:  1980-05-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  262-6     Citation Subset:  AIM; IM    
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MeSH Terms
Central Nervous System Diseases / genetics*
Child, Preschool
Growth Disorders / genetics
Mental Retardation / genetics
Movement Disorders / genetics
Ophthalmoplegia / genetics

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