Tay Sachs disease: an autopsy case report.
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.
Jadhav
Meenal Vitthal
MV
Department of Pathology, B. I. Medical College, Pune. drvhjadhav@hotmail.com
Landge
Meenal P
MP
Sawaimoon
Satyakam K
SK
Harke
Arun B
AB
Deshmukh
Sanjay D
SD
D001344:Autopsy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007194:India; D008297:Male; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000473:pathology*