title: Alexander's disease: unique presentation.
abstract: Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, but many cases have no identified metabolic abnormality. We report a case that clinically, metabolically, and neuroradiologically appeared to be Leigh syndrome. In addition, our patient exhibited other unusual clinical findings, including ocular motility abnormalities. Neuropathologically, however, the diagnosis of Alexander's disease was confirmed. A review of the literature failed to find other cases of Alexander's disease reported with the metabolic abnormalities and clinical manifestations with which our patient presented.
authors.affiliation: Department of Pediatrics, West Virginia University Health Sciences Center, Morgantown 26506-9180, USA. mgingold@wvu.edu
authors.forename: M K
authors.initials: MK
authors.lastname: Gingold
authors.forename: J B
authors.initials: JB
authors.lastname: Bodensteiner
authors.forename: S S
authors.initials: SS
authors.lastname: Schochet
authors.forename: M
authors.initials: M
authors.lastname: Jaynes
mesh_terms: D001344:Autopsy; D001921:Brain / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging