Brain and eye pathology in an infant with Down syndrome and tuberous sclerosis.
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.
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Department of Pathology, Hospital for Sick Children-University of Toronto, Ontario, Canada.
D001921:Brain / Q000473:pathology*; D002114:Calcinosis / Q000209:etiology / Q000473:pathology; D004314:Down Syndrome / Q000150:complications / Q000473:pathology*; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006222:Hamartoma / Q000209:etiology / Q000473:pathology*; D006343:Heart Septal Defects / Q000209:etiology; D006801:Humans; D007223:Infant; D007498:Iris / Q000473:pathology*; D012164:Retinal Diseases / Q000209:etiology / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000150:complications / Q000473:pathology*