title: A new syndrome of mental retardation and epilepsy characterized by dense microsphere accumulation.
abstract: Dense microspheres (DMS) are enigmatic structures found within dendrites in the normal human cortex; their composition and function are unknown. We describe a case of a 29-year-old male with a history of mental retardation and epilepsy in whom the unique neuropathological finding was a marked excess of DMS, most notably in the neocortex. This is a previously undescribed neuropathological syndrome, and represents the first unequivocal association of DMS with a neurological disorder.
authors.affiliation: Department of Pathology, Royal University Hospital, Saskatoon, Saskatchewan, Canada.
authors.forename: D H
authors.initials: DH
authors.lastname: George
authors.forename: D G
authors.initials: DG
authors.lastname: Munoz
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000473:pathology; D003712:Dendrites / Q000648:ultrastructure; D004827:Epilepsy / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D008863:Microspheres; D013577:Syndrome