Literature DB >> 16366100

Tay Sachs disease: an autopsy case report.

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.

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Year:  2005        PMID: 16366100

Source DB:  PubMed          Journal:  Indian J Pathol Microbiol        ISSN: 0377-4929            Impact factor:   0.740


  1 in total

1.  Natural history of infantile G(M2) gangliosidosis.

Authors:  Annette E Bley; Ourania A Giannikopoulos; Doug Hayden; Kim Kubilus; Cynthia J Tifft; Florian S Eichler
Journal:  Pediatrics       Date:  2011-10-24       Impact factor: 7.124

  1 in total

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