title: Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
abstract: Several mitochondrial diseases are known to occasionally involve the cerebral white matter, namely Leigh syndrome, Kearns-Sayre syndrome, and MELAS syndrome, but in these cases the major finding is alteration in the basal ganglia and brainstem. Here we report on severe diffuse white matter involvement and respiratory chain enzyme deficiency or mitochondrial DNA rearrangement in 5 unrelated families. It is interesting that white matter lesions were the only abnormal neuroradiologic feature in 3 of the 5 families, and multiple small cyst-like white matter lesions were found in 2 of 5 probands. Respiratory chain deficiency should be considered in the diagnosis of severe white matter involvement in childhood.
authors.affiliation: Département de Génétique and INSERM U-393, Service de Radiologie Pédiatrique, Département de Pédiatrie, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay-Debeney
authors.forename: J C
authors.initials: JC
authors.lastname: von Kleist-Retzow
authors.forename: L
authors.initials: L
authors.lastname: Hertz-Pannier
authors.forename: S
authors.initials: S
authors.lastname: Peudenier
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: P
authors.initials: P
authors.lastname: Berquin
authors.forename: D
authors.initials: D
authors.lastname: Chrétien
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: J
authors.initials: J
authors.lastname: Baraton
authors.forename: F
authors.initials: F
authors.lastname: Brunelle
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: M
authors.initials: M
authors.lastname: Van Der Knaap
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D010085:Oxidative Phosphorylation; D013384:Succinate Cytochrome c Oxidoreductase / Q000172:deficiency
chemical_list: D004272:DNA, Mitochondrial; D013384:Succinate Cytochrome c Oxidoreductase