Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency.
A neonate presented in the first weeks after birth with vomiting. He was unresponsive, with hypotonia, macrocephaly, and lactic acidosis. The cranial computed tomographic scan revealed a hypodense brain, with increased brain volume and extensive cerebral edema. He died at 6 weeks of age; postmortem examination revealed necrotizing encephalopathy with marked brain edema, spongiosis, thalamic necrosis, and basal ganglia calcifications. Enzyme studies of the mitochondrial respiratory chain revealed complex I deficiency in both muscle and liver.
D000140:Acidosis, Lactic; D001921:Brain / Q000473:pathology; D042967:Electron Transport Complex I; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D004684:Leukoencephalitis, Acute Hemorrhagic / Q000175:diagnosis*; D008111:Liver Function Tests; D008297:Male; D008930:Mitochondria, Liver / Q000201:enzymology; D008931:Mitochondria, Muscle / Q000201:enzymology; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000378:metabolism; D009123:Muscle Hypotonia; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D012886:Skull / Q000002:abnormalities; D014839:Vomiting