title: Leigh's disease with clinical manifestations of Cornelia de Lange syndrome.
abstract: Leigh's disease was found postmortem in a 5-year-old girl who was diagnosed clinically as Cornelia de Lange syndrome at age 1 year. The child's neurological status began to deteriorate rapidly at age 4.5 years and she died suddenly 6 months later. Postmortem examination of the brain revealed bilateral necrosis of the hypothalamus, subthalamic nuclei, midbrain, pons, and medulla. Previous studies have linked Cornelia de Lange syndrome to hypothalamic lesions. This case demonstrates that Leigh's disease, which also damages the hypothalamus, could present with phenotypic features of Cornelia de Lange syndrome.
authors.affiliation: Department of Pathology, University of Saskatchewan, Saskatoon, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Heckmann
authors.forename: L C
authors.initials: LC
authors.lastname: Ang
authors.forename: R
authors.initials: R
authors.lastname: Casey
authors.forename: D H
authors.initials: DH
authors.lastname: George
authors.forename: N
authors.initials: N
authors.lastname: Lowry
authors.forename: M H
authors.initials: MH
authors.lastname: Shokeir
mesh_terms: D001921:Brain / Q000473:pathology; D001933:Brain Stem / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007031:Hypothalamus / Q000473:pathology; D007888:Leigh Disease / Q000235:genetics / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000473:pathology