Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome

Pediatr Radiol. 2024 Sep;54(10):1758-1762. doi: 10.1007/s00247-024-06005-4. Epub 2024 Jul 27.

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.

Keywords: SURF1; Leigh syndrome; Magnetic resonance imaging; Mitochondrial disorders; Nerve enhancement; Pediatric.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Infant
  • Leigh Disease* / diagnostic imaging
  • Leigh Disease* / genetics
  • Magnetic Resonance Imaging* / methods
  • Male
  • Membrane Proteins* / genetics
  • Mitochondrial Proteins* / genetics

Substances

  • Membrane Proteins
  • Surf-1 protein
  • Mitochondrial Proteins