Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome.
SURF1
Leigh syndrome
Magnetic resonance imaging
Mitochondrial disorders
Nerve enhancement
Pediatric
Journal
Pediatric radiology
ISSN: 1432-1998
Titre abrégé: Pediatr Radiol
Pays: Germany
ID NLM: 0365332
Informations de publication
Date de publication:
27 Jul 2024
27 Jul 2024
Historique:
received:
26
05
2024
accepted:
11
07
2024
revised:
11
07
2024
medline:
28
7
2024
pubmed:
28
7
2024
entrez:
27
7
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 39066889
doi: 10.1007/s00247-024-06005-4
pii: 10.1007/s00247-024-06005-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
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