Teaching NeuroImage: Glutaredoxin-5-Associated Variant Nonketotic Hyperglycinemia.
Neurology
; 102(3): e208105, 2024 Feb 13.
Article
em En
| MEDLINE
| ID: mdl-38175985
ABSTRACT
A 5-year-old boy presented with subacute motor regression since age 2.5 years. Examination revealed spasticity of bilateral lower extremities, generalized dystonia, and pseudobulbar palsy. Investigations revealed raised plasma lactate (2.5 mmol/L, normal range 0.8-1.5 mmol/L) and no evidence of sideroblastic anemia. Neuroimaging showed cavitating leukoencephalopathy with involvement of long tracts (corticospinal, spinothalamic tracts) and dorsolateral columns of cervicothoracic cord (Figures 1 and 2). A next-generation sequencing test identified a novel homozygous missense variant (c.171C > A, p.Phe57Leu) in exon 1 of the Glutaredoxin-5 (GLRX5) gene.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperglicinemia não Cetótica
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2024
Tipo de documento:
Article