Cytochrome oxidase deficiency presenting as birth asphyxia

Hypoxic-ischaemic encephalopathy (HIE) was diagnosed in an infant with acid osis. At 7 weeks of age further investigations revealed abnormal neuroimagi ng (CT and MRI scans) and a raised plasma and CSF lactate. A skeletal-muscl e biopsy at 2 months of age confirmed the diagnosis of cytochrome oxidase d eficiency. 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.