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A Case of Regression of Mile Stones with Cherry Red Spot

Journal: International Journal of Science and Research (IJSR) (Vol.4, No. 1)

Publication Date:

Authors : ; ; ;

Page : 1955-1957

Keywords : taysachs disease; sphingolipid; hexoseaminidase A; cherry red spot; nystagmus; startle response;

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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.

Last modified: 2021-06-30 21:20:16