title: [Severe neonatal mitochondrial cytopathy caused by isolated COX defect].
abstract: We report a neonate with isolated cytochrome c oxidase (COX) defect and severe multisystemic involvement. The patient had severe encephalopathy, predominant since birth, and died due to hypoxic-ischemic myocardiopathy. He was the second son of non-consanguineous, healthy parents who also had a daughter with chronic encephalopathy. The neonate presented dysmorphic phenotype, hepatic and muscular involvement, and possibly tubular involvement. Metabolic studies revealed markedly increased lactic/pyruvic concentrations. Diagnosis was based on muscular enzymatic studies and ultrastructural mitochondrial anomalies, while the mitochondrial DNA and results of the COX technique were normal. Histological examination revealed a massive subendocardial infarction. Aspects of this entity with relevance for genetic counseling are discussed.
authors.affiliation: Unidad Neonatal, Hospital Infantil Miguel Servet, Zaragoza.
authors.forename: S
authors.initials: S
authors.lastname: Ruiz Escusol
authors.forename: A
authors.initials: A
authors.lastname: Ferreras Ames
authors.forename: L
authors.initials: L
authors.lastname: Rubio Morales
authors.forename: P
authors.initials: P
authors.lastname: Medrano Marina
authors.forename: J
authors.initials: J
authors.lastname: López Pisón
authors.forename: A
authors.initials: A
authors.lastname: Baldellóu Vázquez
authors.forename: A
authors.initials: A
authors.lastname: Marco Tello
authors.forename: V
authors.initials: V
authors.lastname: Rebage Moisés
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017240:Mitochondrial Myopathies / Q000209:etiology*; D012720:Severity of Illness Index