A Case of Regression of Mile Stones with Cherry Red Spot
Dr. K. Rami Reddy, Dr. Y. Sivaram Krishna, Dr. B. Elizabeth
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.
Keywords: taysachs disease, sphingolipid, hexoseaminidase A, cherry red spot, nystagmus, startle response
Edition: Volume 4 Issue 1, January 2015
Pages: 1955 - 1957