Progressive psychomotor regression for 2.5 years in a boy aged 5 years.
10.7499/j.issn.1008-8830.2201048
- Author:
Mao-Qiang TIAN
;
Xiao-Xi CHEN
1
;
Lei LI
;
Chang-Hui LANG
;
Juan LI
;
Jing CHEN
;
Xiao-Hua YU
;
Xiao-Mei SHU
Author Information
1. Department of Pediatrics, Guizhou Children's Hospital/Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, China.
- Publication Type:Journal Article
- Keywords:
Cerebellar atrophy;
Child;
Gangliosidosis;
HEXA gene;
Tay-Sachs disease
- MeSH:
Atrophy;
Humans;
Magnetic Resonance Imaging;
Male;
Mutation;
Tay-Sachs Disease/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2022;24(6):699-704
- CountryChina
- Language:Chinese
-
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.
