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|Title:||Tay Sachs disease: an autopsy case report.|
|Authors:||Jadhav, Meenal Vitthal|
Landge, Meenal P
Sawaimoon, Satyakam K
Harke, Arun B
Deshmukh, Sanjay D
|Citation:||Jadhav MV, Landge MP, Sawaimoon SK, Harke AB, Deshmukh SD. Tay Sachs disease: an autopsy case report. Indian Journal of Pathology & Microbiology. 2005 Oct; 48(4): 479-80|
|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.|
|Appears in Collections:||Indian Journal of Pathology & Microbiology|
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