! I hate these with a burning F***ing passion. Thumbs up if you agree
1) Very important to note that Tay-Sachs disease has more sensitive startle (moro) reflex in neonates with increased head circumference.
2) Fabry disease = tend to have audio-visual defects w/o liver involvement
3) Niemann-pick disease = anemia & hypotonia with areflexia
Patient most likely has Tay-Sachs disease. This figure nicely shows the biochemical pathway. Recall that both Tay-Sachs and Neimann Pick disease present with a cherry red spot on fundoscopy, but Tay Sachs lacks the hepatosplenomegaly seen in NP.
Cherry red spot basically means niemann-pick or tay sachs. Two differences between is: 1- No HSM in Tay Sachs, HSM in niemann-pick. 2- Both of them has muscle weakness but there is hyperreflexia in Tay Sachs, but areflexia in niemann pick disease. In stem cell HSM is not described and hyperreflexia noted.
I think the exaggerated startle in tay sachs is actually due to the hyperacusis, this is mentioned in first aid