Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome

TL;DR

A young boy with SURF1-associated Leigh syndrome showed unusual nerve enhancement in MRI scans, marking a first in this condition.

Contribution

This is the first reported case of cranial and spinal nerve root enhancement in SURF1-associated Leigh syndrome.

Findings

MRI revealed bilateral symmetrical brain lesions consistent with Leigh syndrome.

Enhancement of multiple cranial, spinal, and cauda equina nerve roots was observed in the cervical cord.

Genetic testing confirmed SURF1 compound heterozygosity as the cause of the syndrome.

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.

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