| Literature DB >> 16366100 |
Meenal Vitthal Jadhav1, Meenal P Landge, Satyakam K Sawaimoon, Arun B Harke, Sanjay D Deshmukh.
Abstract
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.Entities:
Mesh:
Year: 2005 PMID: 16366100
Source DB: PubMed Journal: Indian J Pathol Microbiol ISSN: 0377-4929 Impact factor: 0.740