Brain and eye pathology in an infant with Down syndrome and tuberous sclerosis

V Jay

doi:10.1016/0887-8994(96)00088-4

Brain and eye pathology in an infant with Down syndrome and tuberous sclerosis

Pediatr Neurol. 1996 Jul;15(1):57-9. doi: 10.1016/0887-8994(96)00088-4.

Author

V Jay¹

Affiliation

¹ Department of Pathology, Hospital for Sick Children-University of Toronto, Ontario, Canada.

PMID: 8858702
DOI: 10.1016/0887-8994(96)00088-4

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Brain / pathology*
Calcinosis / etiology
Calcinosis / pathology
Down Syndrome / complications
Down Syndrome / pathology*
Epilepsy, Tonic-Clonic / etiology
Epilepsy, Tonic-Clonic / pathology
Fatal Outcome
Female
Hamartoma / etiology
Hamartoma / pathology*
Heart Septal Defects / etiology
Humans
Infant
Iris / pathology*
Retinal Diseases / etiology
Retinal Diseases / pathology*
Tuberous Sclerosis / complications
Tuberous Sclerosis / pathology*