Leigh Syndrome Due to
Adolescent
Aspartate-tRNA Ligase
/ deficiency
Brain
/ diagnostic imaging
Brain Stem
/ pathology
Child, Preschool
Electron Transport Complex I
/ genetics
Female
Humans
Leigh Disease
/ diagnosis
Leukoencephalopathies
/ diagnosis
Magnetic Resonance Imaging
/ methods
Mitochondrial Diseases
/ diagnosis
Mutation
Phenotype
Leigh syndrome
NDUFV1
OxPhos deficiency
leukodystrophy
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
09 11 2020
09 11 2020
Historique:
received:
13
10
2020
revised:
02
11
2020
accepted:
07
11
2020
entrez:
13
11
2020
pubmed:
14
11
2020
medline:
27
7
2021
Statut:
epublish
Résumé
Leigh syndrome (LS) is most frequently characterized by the presence of focal, bilateral, and symmetric brain lesions Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare condition, characterized by progressive pyramidal, cerebellar, and dorsal column dysfunction. We describe a case with infantile-onset neurodegeneration, psychomotor retardation, irritability, hypotonia, and nystagmus. Brain MRI demonstrated signal abnormalities in the deep cerebral white matter, corticospinal and dorsal column tracts, and pyramids, which resemble the MRI pattern of a severe form of LBSL, and involvement of basal ganglia and thalamus that resemble the radiological features of LS. We identified biallelic loss-of-function mutations, one novel (c.756delC, p.Thr253Glnfs*44) and another reported (c.1156C > T, p.Arg386Cys), in
Identifiants
pubmed: 33182419
pii: genes11111325
doi: 10.3390/genes11111325
pmc: PMC7697158
pii:
doi:
Substances chimiques
NDUFV1 protein, human
0
Aspartate-tRNA Ligase
EC 6.1.1.12
Electron Transport Complex I
EC 7.1.1.2
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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