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Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency
J P Harpey1, D Heron, M Prudent
1Clinique de Pédiatrie-Génétique Médicale, Hôpital de la Salpêtrière, Paris, France.
Insights
Cytochrome-c oxidase (COX) deficiency, a respiratory chain defect, was identified in an infant with leukodystrophy. This finding highlights the importance of lactate level studies in infants with similar neurological symptoms.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Leukodystrophies are a group of inherited disorders affecting white matter.
- Respiratory chain defects can lead to severe neurological impairment in infants.
Observation:
- A 25-month-old boy presented with progressive spastic tetraplegia and diffuse leukodystrophy on MRI.
- Elevated blood and cerebrospinal fluid lactate levels were noted, suggesting a metabolic disorder.
Findings:
- Cytochrome-c oxidase (COX) deficiency was confirmed in cultured skin fibroblasts and skeletal muscle.
- This diagnosis explains the patient's neurological presentation and metabolic abnormalities.
Implications:
- This case expands the known clinical spectrum of COX deficiency in infancy.
- Routine assessment of blood and CSF lactate levels is recommended for infants with leukodystrophy to facilitate early diagnosis of respiratory chain defects.
Abstract:
A 25-month-old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2-weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospinal fluid lactate levels pointed to a respiratory chain defect. Cytochrome-c oxidase deficiency was demonstrated in cultured skin fibroblasts and skeletal muscle. This report extends the phenotype of COX deficiency in infancy. Systematic study of blood and CSF lactate should be carried out in every infant with leukodystrophy.