Tay Sachs Disease

1. Ch 15 autosomal recessive
   
2. Hexosaminidase A deficiency causing GM2 ganglioside accumulation in all tissues, but neurons and retina is affected more.
   
3. Developmental delays
   
4. Exaggerated Startling response to noise
   
5. Cherry red spot on macula
   
6. Lysosome with onion skin appearance on EM
   
7. Child is born normal and symptoms start to appear around 6 months
   
8. Progressively deteriorating leading to vegetative state and death by 2-3 years of life.

Case scenario: An 9-month-old girl is brought to pediatric clinic with chief complains of seizures and developmental delay, mother gave history of uneventful childbirth and girl was normal till 6 months of age. Gradual deterioration in visual attention and progressive weakness is noted by mother. Girl gives exaggerated response when startled. Cherry red spot is seen on fundoscopy.