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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Clinical and biochemical characterization of four patients with mutations in ECHS1

Fig. 3

Brain MRI of patient 4. Brain MRI of patient 4 showing lesions in the basal ganglia (1) and mesencephalon (2). Bilateral hyperintensities are present in the globi pallidi and the left caudate at the age of 12 months (1a) and display progressive degenerative evolution to atrophy after 1 month (1b) and 6 months (1c) of the disease course. The substantia nigra shows acute lesions at 12 months of age (2a) and evolving into atrophy after 6 months (2b)

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