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Cytochrome oxidase deficiency presenting as birth asphyxia
Author(s) -
Willis Tracey A,
Davidson Judith,
Gray R George F,
Poulton Kelvin,
Ramani Pramila,
Whitehouse William
Publication year - 2000
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2000.tb00122.x
Subject(s) - medicine , encephalopathy , asphyxia , differential diagnosis , perinatal asphyxia , pediatrics , muscle biopsy , neuroimaging , cytochrome c oxidase , cerebral palsy , respiratory chain , pathology , biopsy , psychiatry , mitochondrion , chemistry , biochemistry
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.