MR Findings in Leigh Syndrome with COX Deficiency and SURF-1 Mutations
Laura Farinaa,
Luisa Chiapparinia,
Graziella Uzielb,
Marianna Bugianib,
Massimo Zevianic and
Mario Savoiardoa
a Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy
b Department of Pediatric Neurology, Istituto Nazionale Neurologico C. Besta, Milan, Italy
c Department of Genetic and Metabolic Diseases, Istituto Nazionale Neurologico C. Besta, Milan, Italy
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FIG 1. LS SURF-1. Case 5. Male patient, 2 years old.
A–C, Axial T2-weighted images (3000/120/1 [TR/TE/NEX]) show hyperintense lesions involving the region of the inferior olivary nuclei (arrow in A) and the dorsolateral medulla at the base of the restiform bodies (arrowhead in A), punctuate lesions in the pontine tegmentum (arrowhead in B) and more extensive abnormalities in the cerebellar white matter, and lesions in the periaqueductal area and subthalamic nuclei (arrowhead in C).
D and E, Coronal T2-weighted sections (3000/120/1) confirm the presence of lesions in the subthalamic nuclei (arrowhead in D) and show extensive white matter involvement of the cerebellum centered on the dentate nuclei (in E).
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FIG 2. LS non SURF-1. Case 8. Female patient, 8 months old at first examination.
A and B, Axial T2-weighted MR images (3000/120/1) obtained at first examination show hyperintense lesions in the substantia nigra (arrow in A) and medial thalamic nuclei (arrowhead in B). The globi pallidi and white matter, still unmyelinated, are slightly hyperintense, with a tiny, focal hyperintensity in the left pallidum.
C, Follow-up MR image (2028/120/2), obtained 2 years and 2 months later, shows lesions in the basal ganglia that involve both the putamina and the head of the left caudate nucleus. A minimal residual right thalamic lesions is visible (arrowhead). Moderate diffuse brain atrophy is present.
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FIG 3. LS-SURF-1. Case 7. Male patient, 4 years old.
Axial IR T1-weighted MR image (1582/80/2; inversion time, 750 ms) shows sharply defined hypointense lesions of the subthalamic nuclei (arrowhead) and hypointense posterior putaminal lesions (arrow). On follow-up MR images obtained 6 years later (not shown), the former disappeared, and the latter progressed.
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