📝 Abstract

This report describes an 18 months old baby with Infantile Sandhoff disease. This case report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management.

🏷️ Keywords

: Infantile Sandhoff diseasehypothyroidismmultiple partial seizuresdelayed milestoneshypotoniamegalancephalyHexosaminidase A and B Enzyme
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Citation

Dr. Kundan Mittal, Dr. Preeti Raikwar, Dr. Shalini Aggarwal, Dr. Anupama Mittal. (2024). Infantile Sandhoff Disease with Hypothyroidism: A rare presentation. Cithara Journal, 64(12). ISSN: 0009-7527