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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 24:1188-1191, June-July 2003
© 2003 American Society of Neuroradiology

Case Report
PEDIATRICS

Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings

Andrea Rossi^a, Roberta Biancheri^a, Claudio Bruno^e, Maja Di Rocco^b, Angela Calvi^c, Alice Pessagno^d and Paolo Tortori-Donati^a

^a From the Department of Pediatric Neuroradiology, G. Gaslini Children’s Research Hospital, Genova, Italy
^b the 2nd Division of Pediatrics, G. Gaslini Children’s Research Hospital, Genova, Italy
^c the 3rd Division of Pediatrics, G. Gaslini Children’s Research Hospital, Genova, Italy
^d the Department of Infantile Neuropsychiatry, G. Gaslini Children’s Research Hospital, Genova, Italy
^e the Neuromuscular Diseases Unit, University of Genova, Genova, Italy

Address correspondence to Andrea Rossi, M.D., Department of Pediatric Neuroradiology, G. Gaslini Children’s Research Hospital, Largo G. Gaslini 5, I-16147 Genova, Italy

Summary: Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations.

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