Magnetic resonance imaging in lactic acidosis.
Mitochondrial defects, defects in gluconeogenesis, and biotin-responsive multiple carboxylase deficiency are disorders characterized by primary lactic acidosis. In this review, characteristic findings in magnetic resonance imaging (MRI) of the brain, as related to histopathological abnormalities, are described for the different disorders and the diagnostic value of the MRI findings is discussed. Inborn errors of metabolism with primary lactic acidosis should be considered in particular when MRI shows lesions similar to or reminiscent of effects of focal or generalized hypoxia-ischaemia, or when MRI shows signs of chronic neurodegeneration, but rarely in cases with predominantly white-matter changes.
van der Knaap
M S
MS
Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
Jakobs
C
C
Valk
J
J
D000140:Acidosis, Lactic / Q000473:pathology*; D001921:Brain / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*