[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 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.
Ruiz Escusol
S
S
Unidad Neonatal, Hospital Infantil Miguel Servet, Zaragoza.
Ferreras Ames
A
A
Rubio Morales
L
L
Medrano Marina
P
P
López Pisón
J
J
Baldellóu Vázquez
A
A
Marco Tello
A
A
Rebage Moisés
V
V
D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017240:Mitochondrial Myopathies / Q000209:etiology*; D012720:Severity of Illness Index