[Progressive psychomotor regression for 2.5 years in a boy aged 5 years]. / 5å²ç·ç«¥è¿è¡æ§æºåè¿å¨åè½åé2.5å¹´.
Zhongguo Dang Dai Er Ke Za Zhi
; 24(6): 699-704, 2022 Jun 15.
Article
em Zh
| MEDLINE
| ID: mdl-35762438
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 ß-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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Tay-Sachs
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Ano de publicação:
2022
Tipo de documento:
Article