Jadhav Meenal Vitthal, Landge Meenal P, Sawaimoon Satyakam K, Harke Arun B, Deshmukh Sanjay D
Department of Pathology, B. I. Medical College, Pune.
Indian J Pathol Microbiol. 2005 Oct;48(4):479-80.
This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.
