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Dev Med Child Neurol. 2000 Jun;42(6):414-7.

Cytochrome oxidase deficiency presenting as birth asphyxia.

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Department of Paediatric Neurology, University of Birmingham, UK.


Hypoxic-ischaemic encephalopathy (HIE) was diagnosed in an infant with acidosis. At 7 weeks of age further investigations revealed abnormal neuroimaging (CT and MRI scans) and a raised plasma and CSF lactate. A skeletal-muscle biopsy at 2 months of age confirmed the diagnosis of cytochrome oxidase deficiency. The course of the patient's disorder has taken that of a static encephalopathy (cerebral palsy). Inborn disorders of the respiratory chain should be considered in the differential diagnosis of HIE.

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