Leigh syndrome mimicking neuromyelitis optica spectrum disorder (NMOSD).
Mult Scler
; 29(7): 889-892, 2023 Jun.
Article
em En
| MEDLINE
| ID: mdl-37227123
ABSTRACT
We report two children with molecularly confirmed mitochondrial disease mimicking Neuromyelitis Optica Spectrum Disorder (NMOSD). The first patient presented at the age of 15 months with acute deterioration following a pyrexial illness with clinical features localising to the brainstem and spinal cord. The second patient presented at 5 years with acute bilateral visual loss. In both cases, MOG and AQP4 antibodies were negative. Both patients died within a year of symptoms onset from respiratory failure. Arriving at an early genetic diagnosis is important for redirection of care and avoiding potentially harmful immunosuppressant therapies.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Leigh
/
Neuromielite Óptica
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Infant
Idioma:
En
Revista:
Mult Scler
Ano de publicação:
2023
Tipo de documento:
Article