Progressive psychomotor regression for 2.5 years in a boy aged 5 years / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 699-704, 2022.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-939650
Biblioteca responsável:
WPRO
ABSTRACT
A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities. After the age of 4 years and 9 months, the boy developed cognitive function regression, and brain MRI showed cerebellar atrophy. The reanalysis of WES results revealed a compound heterozygous mutation, [NM_000520, c.784C>T(p.His262Tyr]), c.1412C>T(p.Pro471Leu)], in the HEXA gene. The enzyme activity detection showed a significant reduction in the level of β-hexosaminidase encoded by this gene. The boy was diagnosed with juvenile Tay-Sachs disease (TSD). TSD has strong clinical heterogeneity, and cerebellar atrophy may be an important clue for the diagnosis of juvenile TSD. The reanalysis of genetic data when appropriate based on disease evolution may improve the positive rate of WES.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Atrofia
/
Doença de Tay-Sachs
/
Imageamento por Ressonância Magnética
/
Mutação
Limite:
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2022
Tipo de documento:
Artigo