Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome

Mhairi Dupré, Dr Richard R. Warne, Peter Shipman, Maina Kava, Twinkle Ghia, Lily Loughman, Rahul Lakshmanan

Research output: Contribution to journalArticlepeer-review

Abstract

A 23-month-old boy with poor growth, developmental delay, and hypotonia presented with acute onset of ataxia and fatigue. Magnetic resonance imaging (MRI) of the brain and spinal cord was performed as part of diagnostic work-up. MRI showed bilateral symmetrical lesions in basal ganglia, midbrain, and brainstem consistent with Leigh syndrome. Signal abnormalities were also present within the cervical cord, with enhancement of multiple cranial, spinal, and cauda equina nerve roots. Genetic testing confirmed compound heterozygosity for two pathogenic variants in SURF1 implicated in Leigh syndrome. Whilst nerve root enhancement has been described in other mitochondrial disorders, we believe this is the first published case of both cranial and spinal nerve root enhancement in Leigh syndrome.
Original languageEnglish
Pages (from-to)1758-1762
Number of pages5
JournalPediatric Radiology
Volume54
Issue number10
Early online date27 Jul 2024
DOIs
Publication statusPublished - Sept 2024

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