TAY-SACHS DISEASE IN A CHILD: A RARE CASE REPORT ,GGH KURNOOL

Abstract

The neurodegenerative condition known as Tay-Sachs disease is inherited in an autosomal recessive pattern and is caused by an abnormal accumulation of the cell membrane glycolipid and GM2 ganglioside within the lysosomes of affected cells. A lack of the isoenzyme -hexosaminidase A, which is synthesised in the endoplasmic reticulum, is the root cause of this condition. In patients who have Tay-Sachs disease, the first few months of life are characterised by normal motor development, followed by gradual weakening and loss of motor abilities beginning around 2 to 6 months of life. Due to the irreversible nature of neurodegeneration, death typically occurs between the ages of 4 and 5 years. The hexosaminidase enzyme assay and DNA analysis of the HEXA gene are two methods that can be used to diagnose TaySachs disease. On the other hand, there is no specific treatment that has been established. We discuss here a case of TaySachs disease found in an 9-month-old male child who presented with loss of milestones and seizure symptoms. Upon examination of the fundus, it was found that this patient had cherry red spot in the macula. In the enzymatic assay, the hexosaminidase A activity was zero percent, and DNA analysis revealed a mutation in which glutamine was replaced by a stop codon at position 390