1. Teaching NeuroImages: Rapidly progressive leukoencephalopathy in a young child
by F. Baertling, J. Schaper, E. Mayatepek and F. Distelmaier
Neurology
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2. - 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.

3. 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.

4. 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:
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.