Document Detail

Tay Sachs disease: an autopsy case report.
MedLine Citation:
PMID:  16366100     Owner:  NLM     Status:  MEDLINE    
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.
Meenal Vitthal Jadhav; Meenal P Landge; Satyakam K Sawaimoon; Arun B Harke; Sanjay D Deshmukh
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of pathology & microbiology     Volume:  48     ISSN:  0377-4929     ISO Abbreviation:  Indian J Pathol Microbiol     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-12-21     Completed Date:  2006-01-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7605904     Medline TA:  Indian J Pathol Microbiol     Country:  India    
Other Details:
Languages:  eng     Pagination:  479-80     Citation Subset:  IM    
Department of Pathology, B. I. Medical College, Pune.
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MeSH Terms
Brain / pathology
Child, Preschool
Diagnosis, Differential
Tay-Sachs Disease / diagnosis,  pathology*

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