title: de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.
abstract: We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values contrasting with normal blood lactate, and high 3-hydroxybutyrate/acetoacetate ratio with normal lactate/pyruvate ratio. This case emphasizes the importance of performing metabolic and biochemical investigations in every patient with Leigh syndrome, even in the absence of hyperlactatemia or myopathy.
authors.affiliation: Departement de Pediatrie, Hôpital Enfants Malades, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Ogier
authors.forename: A
authors.initials: A
authors.lastname: Lombes
authors.forename: H R
authors.initials: HR
authors.lastname: Scholte
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: J
authors.initials: J
authors.lastname: Alcardi
authors.forename: B
authors.initials: B
authors.lastname: Vignes
authors.forename: P
authors.initials: P
authors.lastname: Niaudet
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D001928:Brain Diseases, Metabolic / Q000150:complications*; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D005198:Fanconi Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007668:Kidney / Q000201:enzymology; D007773:Lactates / Q000097:blood / Q000134:cerebrospinal fluid; D019344:Lactic Acid; D007888:Leigh Disease / Q000150:complications*; D008099:Liver / Q000201:enzymology; D009132:Muscles / Q000201:enzymology
chemical_list: D007773:Lactates; D019344:Lactic Acid