title: [Clinical and biochemical heterogeneity of childhood cytochrome C deficiency. Review of the literature].
abstract: The detailed clinical history of a patient with a partial cytochrome c oxidase (COX) deficiency, which was demonstrated both in muscle and liver tissues, is presented. The review of the 27 pediatric cases published shows the multisystemic involvement of this enzyme deficiency and its vast clinical heterogeneity. In addition to the classical findings (myopathy, Debré-DeToni-Fanconi syndrome and lactic acidosis), our patient presented: Neurosensorial hearing loss, feeding problems, failure to thrive and hypertrophic myocardiopathy. Clinical or neuroradiological findings suggestive of Leigh's syndrome were not found despite her partial COX deficiency, neurosensorial hearing loss has been observed in four other patients with COX deficiency. Therefore, this enzyme deficiency should be considered in the differential diagnosis of neurosensorial deafness in infancy.
authors.affiliation: Hospital Materno-Infantil Vall d'Hebron, Universidad Autónoma de Barcelona.
authors.forename: M
authors.initials: M
authors.lastname: Roig Quilis
authors.forename: J
authors.initials: J
authors.lastname: Sánchez Esteban
authors.forename: A
authors.initials: A
authors.lastname: Lombes
authors.forename: S
authors.initials: S
authors.lastname: Dimauro
authors.forename: C
authors.initials: C
authors.lastname: Navarro F-Balbuena
authors.forename: C
authors.initials: C
authors.lastname: Domínguez Luengo
authors.forename: J
authors.initials: J
authors.lastname: Suñé Gracia
authors.forename: A
authors.initials: A
authors.lastname: Macaya Ruiz
mesh_terms: D000015:Abnormalities, Multiple / Q000378:metabolism / Q000473:pathology; D001706:Biopsy; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D009132:Muscles / Q000473:pathology
vernacular_title: Heterogeneidad clínica y bioquímica del déficit de citocromo C en la infancia. Revisión de la literatura.