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  • Title: Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency.
    Author: Feillet F, Mousson B, Grignon Y, Leonard JV, Vidailhet M.
    Journal: Pediatr Neurol; 1999 Apr; 20(4):305-8. PubMed ID: 10328281.
    Abstract:
    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.
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