Severe neonatal mitochondrial cytopathy caused by isolated COX defect

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 daugh...

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Bibliographic Details
Published inAnales españoles de pediatría Vol. 52; no. 4; p. 392
Main Authors Ruiz Escusol, S, Ferreras Ames, A, Rubio Morales, L, Medrano Marina, P, López Pisón, J, Baldellóu Vázquez, A, Marco Tello, A, Rebage Moisés, V
Format Journal Article
LanguageSpanish
Published Spain 01.04.2000
Subjects
Cytochrome-c Oxidase Deficiency
Humans
Infant, Newborn
Male
Mitochondrial Myopathies - etiology
Severity of Illness Index
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Summary: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.
ISSN:0302-4342