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.
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Shaanxi Province Diagnosis and Treatment Center of Kawasaki Disease/Children's Hospital of Shaanxi Provincial
People's Hospital, Children's Hospital of Shanghai Jiao Tong University, Beijing Children's Hospital of Capital Medical
University, Shengjing Hospital of China Medical University, Affiliated Hospital of Yan'an University, Expert Committee
of Advanced Training for Pediatrician, China Maternal and Children's Health Association, General Pediatric Group of
Pediatrician Branch of Chinese Medical Doctor Association, Pediatric International Exchange and Cooperation Center,
Shanghai Cooperation Organization Hospital Cooperation Alliance, Editorial Board of Chinese Journal of
Contemporary Pediatrics. Pediatric expert consensus on the application of aspirin in Kawasaki disease[J]. CJCP, 2022, 24(6): 597-603.