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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.
Journal of Inherited Metabolic Disease
|November 20, 1998
Summary
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.