title: Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.
abstract: Leigh syndrome, due to a dysfunction of mitochondrial energy metabolism, is a genetically heterogeneous and progressive neurologic disorder that usually occurs in infancy and childhood. Its clinical presentation and neuroimaging findings can be variable, especially early in the course of the disease. This report presents a patient with infantile Leigh syndrome who had atypical radiologic findings on serial neuroimaging studies with early and severe involvement of the cervical spinal cord and brainstem and injury to the thalami and basal ganglia occurring only late in the clinical course. Postmortem microscopic examination supported this timing of injury within the central nervous system. In addition, mitochondrial deoxyribonucleic acid sequencing showed a novel homoplasmic variant that could be responsible for this unique lethal form of Leigh syndrome.
authors.affiliation: 1Department of Pediatrics, Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Tenney
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Prada
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.forename: Barbara E
authors.initials: BE
authors.lastname: Hallinan
mesh_terms: D001344:Autopsy; D001933:Brain Stem / Q000473:pathology / Q000503:physiopathology*; D038524:Diffusion Magnetic Resonance Imaging; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000473:pathology*; D008297:Male; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology*
keywords: Leigh; MRI; metabolic; mitochondrial; subacute necrotizing encephalomyelopathy