Tay-Sachs Disease in Japan

Report of three cases with review of Japanese literature

Abstract

Three typical cases of Tay-Sachs disease were reported. Membranous cytoplasmic bodies were demonstrated electron microscopically in myenteric plexus ganglia of appendix surgically removed in one case.
Reviewing Japanese literature, it was found that 46 cases of Tay-Sachs disease had been reported since 1900 till 1969.
On 49 cases, including 3 personal cases here reported, all Japanese in nationality, some clinicogenetical aspects were analysed. The following is a summary of the results.
1) Sex ratio: Male: female=1: 1.13
2) Consanguinity in family history positive in 19 among 41 families (46.3%)
3) Fraternal recurrence rate=23.4%
4) Age of onset: most commonly between 6 to 8 months of age
5) Cherry-red spot: 48/49 (98%)
6) Convulsions: 15/21 (70%)