Document Detail

Brain and eye pathology in an infant with Down syndrome and tuberous sclerosis.
MedLine Citation:
PMID:  8858702     Owner:  NLM     Status:  MEDLINE    
The association of tuberous sclerosis with Down syndrome is exceedingly rare. An infant with this unusual association is reported with a description of brain and ocular abnormalities which were referable to both conditions. There was anteroposterior foreshortening of the brain and Brushfield spots in the iris, which are described in Down syndrome. The infant, who suffered from a seizure disorder, manifested multiple tubers and subependymal candle gutterings in the brain as well as bilateral retinal astrocytic hamartomas.
V Jay
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  15     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1996 Jul 
Date Detail:
Created Date:  1997-02-06     Completed Date:  1997-02-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  57-9     Citation Subset:  IM    
Department of Pathology, Hospital for Sick Children-University of Toronto, Ontario, Canada.
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MeSH Terms
Brain / pathology*
Calcinosis / etiology,  pathology
Down Syndrome / complications,  pathology*
Epilepsy, Tonic-Clonic / etiology,  pathology
Fatal Outcome
Hamartoma / etiology,  pathology*
Heart Septal Defects / etiology
Iris / pathology*
Retinal Diseases / etiology,  pathology*
Tuberous Sclerosis / complications,  pathology*

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