Postmortem Diagnosis of Infantile Tay-Sachs Disease: A Case Report with Clinicopathologic Correlation

Dr. Cini Venugopal Ambika, Dr. Prema N S

Abstract: Tay Sachs disease is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of the lysosomal enzyme ? hexosaminidase A, resulting in the accumulation of GM2 gangliosides in neurons. This case describes a 5-year-old bedridden girl with classical findings of Tay Sachs disease confirmed by clinical features, imaging, histopathology, and enzyme analysis. The hallmark histological feature-ballooned neurons with cytoplasmic vacuoles-was observed. This case underscores the importance of integrating histopathology and clinical correlation for diagnosis.

Keywords: Tay Sachs disease, neurodegenerative disorder, ballooned neurons, hexosaminidase A, lysosomal storage disease

How to Cite?: Dr. Cini Venugopal Ambika, Dr. Prema N S, "Postmortem Diagnosis of Infantile Tay-Sachs Disease: A Case Report with Clinicopathologic Correlation", Volume 14 Issue 7, July 2025, International Journal of Science and Research (IJSR), Pages: 1450-1451, https://www.ijsr.net/getabstract.php?paperid=SR25720163037, DOI: https://dx.doi.org/10.21275/SR25720163037