Tay–Sachs Disease: A Rare Case

Lysosomal storage disorders, also known as lipidoses, encompass various inherited diseases resulting from the deficiency of specific lysosomal hydrolases. Tay–Sachs disease (TSD) is a rare genetic disorder predominantly seen in certain populations, including Ashkenazi Jews, French-Canadians, and Cajuns. Its prevalence in the general population, including in India, is much lower. There is limited specific data on the prevalence of TSD in the Indian population, but it is considered extremely rare compared with the high-risk groups mentioned. We report a case of a 10-month-old infant, the first infant of third-degree consanguineous parents, who had an uneventful birth history. The infant presented with delayed developmental milestones, macrocephaly, cherry-red spots in both eyes, and poor hair growth, but without organomegaly or seizures. Hexosaminidase A enzyme activity was found to be reduced. Genetic testing revealed a novel homozygous variation in the HEXA gene in the patient’s DNA sample.