by F. Baertling, J. Schaper, E. Mayatepek and F. Distelmaier Neurology

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Presentation transcript:

Teaching NeuroImages: Rapidly progressive leukoencephalopathy in a young child by F. Baertling, J. Schaper, E. Mayatepek and F. Distelmaier Neurology Volume #(#):e#-e# Month ##, 20## ©20## by Lippincott Williams & Wilkins

- At the age of eight months, an infant girl displayed developmental regression, including loss of acquired motor skills. - Family history, birth, and initial development were unremarkable. - After hospital admission, cerebral MRI showed bilateral symmetric cystic lesions in the semioval center. - Follow-up imaging after three months demonstrated a drastic progression in these alterations with demyelination of the supratentorial white matter. Baertling et al.

Baertling et al. Figure legend A) Axial T2-weighted MRI image of the brain, demonstrating bilateral cystic white matter lesions in the semioval center. B) Corresponding sagittal T1-weighted MRI image. C / D) Follow-up MRI images after 3 months, revealing confluent demyelination of the entire supratentorial white matter. Baertling et al.

Teaching NeuroImages: Rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency Biochemical and genetic analyses confirmed isolated mitochondrial complex I deficiency due to an NDUFS1 mutation (for details see reference (1), patient 1). - Of note, leukoencephalopathy is uncommon in mitochondrial complex I mutations but may be a feature of NDUFS1 defects (2). References 1. Distelmaier F, Koopman WJ, van den Heuvel LP, et al. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 2009;132:833-842. 2. Lebre AS, Rio M, Faivre d'Arcier L, et al. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet;48:16-23.   Baertling et al.