AJDRAJNR - American Journal of Neuroradiology

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ARTICLE

Uncommon Morphologic Characteristics in Leigh's Disease

Monika Warmuth-Metz,a, E. Hofmanna, M. Büssea and L. Solymosia

a From the Department of Neuroradiology (M.W.-M., E.H., L.S.) and Pediatrics (M.B.), University of Würzburg, Würzburg, Germany.

Summary: We describe a 4-month-old male patient with severe developmental delay and elevated lactate in blood and CSF. The MR images showed abnormalities differing from the typical pattern found in association with Leigh's disease. The examination of fibroblast cultures showed diminished activity of mitochondrial complexes I and III. The patient died at the age of 9 months.




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