著者

數間 貴紀 新井 麻子 大谷 智子 老谷 嘉樹 鈴木 恵子 松永 保

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.2, pp.67-72, 2023-04-25 (Released:2023-04-25)

参考文献数

10

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Tay-Sachs disease involves accumulation of GM2 gangliosides in lysosomes due to a metabolic disorder of brain-abundant gangliosides. In the infantile type, death typically occurs by 3 years of age. We report brain magnetic resonance imaging (MRI) abnormalities in a case of infantile Tay-Sachs disease. The 8-month-old patient had development delay and began regression at 1 year of age. A cherry-red fundus spot and low β-hexosaminidase A (Hex A) levels in leukocytes indicated GM2 gangliosidosis. Gene analysis identified homozygous pathogenic variants in the HEXA gene, leading to Tay-Sachs disease diagnosis.At 10 months of age, brain MRI showed age-appropriate myelination. At 1 year 9 months, T2-weighted imaging showed high intensity in the subcortical white matter, with delayed myelination. At 2 years 4 months, the cerebral white matter, putamen, caudate nucleus, thalami (except ventral), middle cerebellar peduncle, and dentate nucleus showed high intensity on T2-weighted imaging. At 5 years 8 months, cerebral and basal ganglia atrophy was observed. The caudate nucleus and putamen showed high intensity on T1-weighted images and low intensity on T2-weighted images. Unlike typical infantile Tay-Sachs characteristics, higher Hex A activity in this case probably contributed to a milder phenotype and myelination acquisition during infancy.