Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings

Andrea Rossi; Roberta Biancheri; Claudio Bruno; Maja Di Rocco; Angela Calvi; Alice Pessagno; Paolo Tortori-Donati

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings

AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1188-91.

Authors

Andrea Rossi¹, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati

Affiliation

¹ Department of Pediatric Neuroradiology, G. Gaslini Children's Research Hospital, Largo G. Gaslini 5, I-16147 Genoa, Italy.

PMID: 12812953
PMCID: PMC8148997

Abstract

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.

Publication types

Case Reports

MeSH terms

Base Pairing / genetics
Brain / pathology
Brain Diseases, Metabolic / diagnosis*
Brain Diseases, Metabolic / genetics
Child, Preschool
Chromosome Deletion
Cytochrome-c Oxidase Deficiency / diagnosis*
Cytochrome-c Oxidase Deficiency / genetics*
DNA Mutational Analysis
Diagnosis, Differential
Exons
Fatal Outcome
Female
Follow-Up Studies
Genetic Carrier Screening
Humans
Infant
Infant, Newborn
Introns
Leigh Disease / diagnosis*
Leigh Disease / genetics*
Magnetic Resonance Imaging*
Male
Membrane Proteins
Mitochondrial Proteins
Mutation / genetics*
Proteins / genetics*
Spinal Cord / pathology

Substances

Membrane Proteins
Mitochondrial Proteins
Proteins
Surf-1 protein