Cytochrome oxidase deficiency presenting as birth asphyxia.
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.
Willis
T A
TA
Department of Paediatric Neurology, University of Birmingham, UK.
Davidson
J
J
Gray
R G
RG
Poulton
K
K
Ramani
P
P
Whitehouse
W
W
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
D003576:Electron Transport Complex IV