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Case Studies | Pediatrics | India | Volume 4 Issue 1, January 2015 | Rating: 6.8 / 10
A Case of Regression of Mile Stones with Cherry Red Spot
Dr. K. Rami Reddy | Dr. Y. Sivaram Krishna | Dr. B. Elizabeth [2]
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.
Keywords: taysachs disease, sphingolipid, hexoseaminidase A, cherry red spot, nystagmus, startle response
Edition: Volume 4 Issue 1, January 2015,
Pages: 1955 - 1957