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PubMed · 10328281

Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency.

F Feillet·B Mousson·Y Grignon·J V Leonard·M Vidailhet
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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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Acidosis, LacticBrainElectron Transport Complex IFatal OutcomeHumansInfant, NewbornLeukoencephalitis, Acute HemorrhagicLiver Function TestsMaleMitochondria, LiverMitochondria, MuscleMitochondrial EncephalomyopathiesMuscle HypotoniaNADH, NADPH OxidoreductasesSkullVomitingCase ReportsJournal Article

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F Feillet, B Mousson, Y Grignon, J V Leonard, M Vidailhet. 1999. Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency.. https://doi.org/10.1016/s0887-8994(98)00162-3

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