Tuberous sclerosis in the premature infant: a report of a case with immunohistochemistry on the CNS.
Numerous hard cortical nodules, a large subependymal giant-cell astrocytoma and a massive rhabdomyoma were described in a hydropic infant of 31 weeks gestation who lived only four hours. With six other documented cases, tuberous sclerosis in premature infants was reviewed in the hope to pinpoint the early lesions in the CNS and heart. Three premature infants including the present case with tuberous sclerosis presented as hydrops fetalis, and all three had a massive rhabdomyoma. Immunohistochemistry on the CNS lesions disclosed aggregates of bizarre giant cells, which concomitantly expressed epitopes for astroglial, oligodendroglial and neuronal phenotypes in the subpial, cortical, subcortical and subependymal zones. The findings strongly indicate that hamartomatous differentiation of pluripotential germinal neuroglia in the subependymal layer establishes early in the gestational stage and causes aberrant and/or arrested migration towards the cortical surfaces.
Chou
T M
TM
University of California San Francisco, Department of Medicine 94143.
Chou
S M
SM
D001921:Brain / Q000473:pathology*; D002554:Cerebrosides / Q000032:analysis*; D004805:Ependyma / Q000473:pathology; D005260:Female; D005699:Galactosylceramides / Q000032:analysis*; D005904:Glial Fibrillary Acidic Protein / Q000032:analysis*; D006801:Humans; D007124:Immunoenzyme Techniques; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000473:pathology*; D007381:Intermediate Filament Proteins / Q000032:analysis*; D016900:Neurofilament Proteins; D009457:Neuroglia / Q000473:pathology; D009474:Neurons / Q000473:pathology; D014402:Tuberous Sclerosis / Q000473:pathology*; D014746:Vimentin / Q000032:analysis*
D002554:Cerebrosides; D005699:Galactosylceramides; D005904:Glial Fibrillary Acidic Protein; D007381:Intermediate Filament Proteins; D016900:Neurofilament Proteins; D014746:Vimentin; C002454:galactocerebroside