title: Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.
abstract: Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript.
authors.affiliation: Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium stephanie.paquay@belgacom.net.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Paquay
authors.affiliation: Département de Biologie Moléculaire, Institut de Pathologie et de Génétique, Gosselies, Belgium.
authors.forename: Valérie
authors.initials: V
authors.lastname: Benoit
authors.affiliation: Service de Neurologie Pédiatrique, Centre Hospitalier Universitaire de Charleroi, Charleroi, Belgium.
authors.forename: Catherine
authors.initials: C
authors.lastname: Wetzburger
authors.affiliation: Service d'Ophtalmologie, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
authors.forename: Monique
authors.initials: M
authors.lastname: Cordonnier
authors.affiliation: Service d'Ophtalmologie, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
authors.forename: Françoise
authors.initials: F
authors.lastname: Meire
authors.affiliation: Service de Néonatologie, Grand Hôpital de Charleroi, Charleroi, Belgium.
authors.forename: Anne
authors.initials: A
authors.lastname: Charon
authors.affiliation: Centre des Maladies Métaboliques, Institut de Pathologie et de Génétique, Gosselies, Belgium.
authors.forename: Dominique
authors.initials: D
authors.lastname: Roland
authors.affiliation: Department of Pediatrics and Medical Genetics, University of Ghent, Ghent, Belgium.
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.affiliation: Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Marie-Cécile
authors.initials: MC
authors.lastname: Nassogne
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Maystadt
mesh_terms: D000293:Adolescent; D019588:Aging, Premature / Q000150:complications / Q000235:genetics*; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
keywords: Leber optic neuropathy; Leigh syndrome; oxygen therapy; phenotypic variability; prematurity