A Case of Regression of Mile Stones with Cherry Red Spot

Journal Title: International Journal of Science and Research (IJSR) - Year 2015, Vol 4, Issue 1

Abstract

Taysachs disease is a autosomal recessive disorder of sphingolipid metabolism caused by enzyme hexoseaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neuronal function. The accumulation of lipids in retinal ganglion cells that leads to a chalky white appearance of the fundus other findings include cherry red spot is hallmark of taysachsdisease . This disease is particularly prevalent in ashkenazijews in whom a carrier state of 1 in 30 has been reported.This is a case report of infantile taysachs disease in 1 year 10 months old female baby born of non consanguineous parentage who presented with seizures , exaggerated startle response, nystagmus , and regression of the acquired mile stones.

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  • EP ID EP341582
  • DOI -
  • Views 65
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How To Cite

(2015). A Case of Regression of Mile Stones with Cherry Red Spot. International Journal of Science and Research (IJSR), 4(1), -. https://europub.co.uk./articles/-A-341582