title: Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.
abstract: Results of a literature survey of 173 patients with Leigh syndrome are presented, with emphasis on signs and symptoms in relation to age at onset, contributions of technical investigations to the diagnosis, pathophysiology, genetic considerations and therapeutic aspects. Based on this study we are of the opinion that it is possible to come to a diagnosis of "most probable Leigh syndrome" durante vitamin on the combination of clinical signs and symptoms, autosomal recessive mode of inheritance, association with a defect of energy metabolism, and CT or MRI abnormalities.
authors.affiliation: Department of Child Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: P M
authors.initials: PM
authors.lastname: van Erven
authors.forename: J P
authors.initials: JP
authors.lastname: Cillessen
authors.forename: E M
authors.initials: EM
authors.lastname: Eekhoff
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: W H
authors.initials: WH
authors.lastname: Doesburg
authors.forename: W A
authors.initials: WA
authors.lastname: Lemmens
authors.forename: J L
authors.initials: JL
authors.lastname: Slooff
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
mesh_terms: D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D008297:Male