title: Cytochrome oxidase deficiency presenting as birth asphyxia.
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.
authors.affiliation: Department of Paediatric Neurology, University of Birmingham, UK.
authors.forename: T A
authors.initials: TA
authors.lastname: Willis
authors.forename: J
authors.initials: J
authors.lastname: Davidson
authors.forename: R G
authors.initials: RG
authors.lastname: Gray
authors.forename: K
authors.initials: K
authors.lastname: Poulton
authors.forename: P
authors.initials: P
authors.lastname: Ramani
authors.forename: W
authors.initials: W
authors.lastname: Whitehouse
mesh_terms: D000140:Acidosis, Lactic / Q000097:blood / Q000209:etiology; D001238:Asphyxia Neonatorum / Q000175:diagnosis / Q000209:etiology*; D001706:Biopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency; D003937:Diagnosis, Differential; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D020925:Hypoxia-Ischemia, Brain / Q000150:complications / Q000175:diagnosis*; D007231:Infant, Newborn; D007888:Leigh Disease / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D003576:Electron Transport Complex IV