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Cytochrome oxidase deficiency presenting as birth asphyxia

Published online by Cambridge University Press:  01 June 2000

Tracey A Willis ,
Judith Davidson ,
R George F Gray ,
Kelvin Poulton ,
Pramila Ramani  and
William Whitehouse
Tracey A Willis
Affiliation:
Department of Paediatric Neurology, University of Birmingham, Birmingham, UK.
Judith Davidson
Affiliation:
Department of Paediatric Neurology, University of Birmingham, Birmingham, UK.
R George F Gray
Affiliation:
Department of Clinical Chemistry, University of Birmingham, Birmingham, UK.
Kelvin Poulton
Affiliation:
Department of Neuropathology, University of Birmingham, Birmingham, UK.
Pramila Ramani
Affiliation:
Department of Pathology, University of Birmingham, Birmingham, UK.
William Whitehouse
Affiliation:
Department of Paediatric Neurology, University of Birmingham, Birmingham, UK.
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Abstract

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.

Type
Case Reports
Information
Developmental Medicine and Child Neurology , Volume 42 , Issue 6 , June 2000 , pp. 414 - 417
Copyright
2000 Mac Keith Press

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