Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome.

Autor: Dupré M; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Warne R; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Shipman P; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Kava M; Department of Neurology, Perth Children's Hospital, Perth, 6009, Australia.; Department of Metabolic Medicine, Perth Children's Hospital, Perth, 6009, Australia.; School of Paediatrics and Child Health, UWA Medical School, University of Western Australia, Perth, 6009, Australia., Ghia T; Department of Neurology, Perth Children's Hospital, Perth, 6009, Australia., Loughman L; Genetic Health Western Australia, King Edward Memorial Hospital, Perth, 6008, Australia., Lakshmanan R; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia. Rahul.Lakshmanan@health.wa.gov.au.; UWA Medical School, Centre for Neuromuscular and Neurological Disorders (Perron Institute), Nedlands, 6009, Australia. Rahul.Lakshmanan@health.wa.gov.au.
Jazyk: angličtina
Zdroj: Pediatric radiology [Pediatr Radiol] 2024 Sep; Vol. 54 (10), pp. 1758-1762. Date of Electronic Publication: 2024 Jul 27.
DOI: 10.1007/s00247-024-06005-4
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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