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Vol. 52. Núm. 4.
Páginas 392-394 (abril 2000)
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Vol. 52. Núm. 4.
Páginas 392-394 (abril 2000)
Acceso a texto completo
Citopatía mitocondrial neonatal grave por déficit aislado de COX
Severe neonatal mitochondrial cytopathy due to isolated COX defects
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12532
S. Ruiz Escusola, A. Ferreras Amesa, L. Rubio Moralesa, P. Medrano Marinaa, J. López Pisónb, A. Baldellóu Vázquezc, A. Marco Telloa, V. Rebage Moisés*,a
a Unidad Neonatal. Hospital Infantil Miguel Servet. Zaragoza.
b Sección de Neuropediatría. Hospital Infantil Miguel Servet. Zaragoza.
c Unidad de Metabolismo. Hospital Infantil Miguel Servet. Zaragoza.
Este artículo ha recibido
Información del artículo

Recién nacido con déficit aislado de citocromo C oxidasa (COX), con afectación multisistémica grave, en la que predominaba desde el nacimiento una encefalopatía severa, que falleció precozmente por miocardiopatía hipóxico- isquémica. Segundo hijo de un matrimonio sano no consanguíneo, con otra hija afectada de encefalopatía crónica. Presentaba además, fenotipo dismórfico, afectación hepática y muscular y una posible tubulopatía. En la valoración metabólica resaltaba una relación láctico/pirúvico aumentada. El diagnóstico se estableció por estudio enzimático muscular y por las alteraciones ultraestructurales mitocondriales, siendo normales el ADNmt y la tinción para COX. En el examen anatomopatológico se evidenció un infarto subendocárdico masivo. Se comentan aspectos de interés sobre esta entidad, dada la importancia de su conocimiento para el correspondiente consejo genético.

Palabras clave:
Mitocondria
Recién nacido
Citopatía mitocondrial
Citocromo C oxidasa

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.

Key words:
Mitochondria
Neonate
Mitochondrial cytopathy
Cytochrome c oxidase
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